Familial androgen insensitivity syndrome (AIS), resulting from inherited mutations in the androgen receptor (AR)gene, has traditionally been examined within the framework of disorders of sex development. However, grow...Familial androgen insensitivity syndrome (AIS), resulting from inherited mutations in the androgen receptor (AR)gene, has traditionally been examined within the framework of disorders of sex development. However, growingevidence indicates that AR dysfunction also disrupts systemic metabolic homeostasis, predisposing affectedindividuals to insulin resistance and type 2 diabetes mellitus. This article synthesizes recent advances in genetics,transcriptomics, and physiology to elucidate how AR mutations drive tissue-specific metabolic reprogramming inkey organs, including pancreatic β-cells, skeletal muscle, liver, and adipose tissue. Particular attention is given to anewly identified familial AR variant (c.2117A>G;p.Asn706Ser), which not only broadens the known mutationalspectrum of AIS but also underscores the clinical importance of early metabolic risk screening in this population.We further examine how pubertal stage, hormone replacement therapy, and sex-specific signaling pathwaysinteract to influence long-term metabolic outcomes. Lastly, we propose an integrative management framework thatincorporates genetic diagnosis, endocrine surveillance, and personalized pharmacological strategies aimed atreducing the risk of type 2 diabetes mellitus and cardiometabolic complications in individuals with AIS. Distinctfrom previous AIS-centered reviews, this work integrates metabolic and endocrine perspectives into the traditionaldevelopmental paradigm, offering a more comprehensive understanding of disease risk and translational management.展开更多
Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of...Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel （c.2112 C〉G[p.STO4R], c.2290T〉A[p.Y764N], c.2626C〉T[p.Q876X], c.933dupC[p.K313Qfs＊28], and c.1067delC[p.A356Efs＊123]）; the other five were previously reported （c.1789G〉A[p.A597T], c.2566C〉T[p.R856C], c.2668G〉A[p.V890M], c.2679C〉T[p.P893L], and c.1605C〉G[p.Y535X]）. Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% （3/10） of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.展开更多
Mutations in the X-linked androgen receptor （AR） gene cause androgen insensitivity syndrome （AIS）, resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity （CAI...Mutations in the X-linked androgen receptor （AR） gene cause androgen insensitivity syndrome （AIS）, resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity （CAIS） produces a female external phenotype, whereas cases with partial androgen insensitivity （PALS） have various ambiguities of the genitalia. Mild androgen insensitivity （MAIS） is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone （T） and dihydrotestosterone （DHT） synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.展开更多
Poly(3-hexylthiophene)(P3HT) is a low-cost polymer donor for organic solar cells (OSCs). However, the P3HT-based OSCs usually give low power conversion efficiencies (PCEs) due to the wide bandgap and the high-lying en...Poly(3-hexylthiophene)(P3HT) is a low-cost polymer donor for organic solar cells (OSCs). However, the P3HT-based OSCs usually give low power conversion efficiencies (PCEs) due to the wide bandgap and the high-lying energy levels of P3HT. To solve this problem, in this work, we design and synthesize a new A-D-A type non-fullerene acceptor, DFPCBR, which owns an electron-donating (D) core constructed by linking a 2,5-difluorobenzene ring with two cyclopentadithiophene moieties, and two electron-accepting (A) end-groups of benzo[c][1,2,5]thiadiazole connected with 3-ethyl-2-thioxothiazolidin-4-one. Because of the strong electron-donating ability and large conjugation effect of D core, DFPCBR shows appropriate energy levels and a narrow bandgap matching well with those of P3HT. Therefore, with P3HT as the donor and DFPCBR as the acceptor, the OSCs possess broad absorption range from 350 nm to 780 nm and the reduced energy loss (Eloss) of 0.79 eV (compared with ~1.40 eV for the P3HT:PC61BM device), providing a good PCE of 5.34% with a high open-circuit voltage (VOC) of 0.80 V. Besides, we observe that the photovoltaic performances of these devices are insensitive to the thickness of the active layers:even if the active layer is as thick as 320 nm,~80%of the best PCE is maintained, which is rarely reported for fullerene-free P3HT-based OSCs, suggesting that DFPCBR has the potential application in commercial OSCs in the future.展开更多
Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in ...Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction （PCR） amplification followed by allelic genotyping to determine allele length. Results： Our study revealed significantly shorter mean lengths of CAG repeats in patients （mean 18.25 repeats, range 14-26 repeats） in comparison to the controls （mean 22.57 repeats, range 12-39 repeats） （two-tailed P 〈 0.0001）. GGN repeats, however, did not differ significantly between patients （mean 21.48 repeats） and controls （mean 21.21 repeats） （two- tailed P = 0.474）. Among patients＇ groups, the mean number of CAG repeats in partial androgen insensitivity cases （mean 15.83 repeats） was significantly less than in complete androgen insensitivity cases （mean 19.46 repeats） （two- tailed P 〈 0.0001）. Conclusion： The findings suggest that shorter lengths of repeats in the AR gene might act as low penetrance genetic background in varying manifestation of androgen insensitivity.展开更多
Pelvic osteotomy is commonly used to adjust acetabula dysplasia for congenital dislocation of the hip, whereas congenital insensitivity to pain with anhidrosis(CIPA) is a rare hereditary disease that often has the cha...Pelvic osteotomy is commonly used to adjust acetabula dysplasia for congenital dislocation of the hip, whereas congenital insensitivity to pain with anhidrosis(CIPA) is a rare hereditary disease that often has the characteristics of joint development deformity and easy fracture. This article reports the case involving a CIPA patient who was surgically treated by Chiari pelvic osteotomy and proximal femoral rotation osteotomy for congenital dislocation of the left hip joint and was provided long-term follow-up for redislocation and bilateral femoral head absorption.展开更多
Axially loaded tubular structures are known to be highly sensitive to initial geometric imperfections,which can significantly reduce their design bearing capacity.To address this issue,this study explores the potentia...Axially loaded tubular structures are known to be highly sensitive to initial geometric imperfections,which can significantly reduce their design bearing capacity.To address this issue,this study explores the potential of an origami-inspired design for tubular structures to achieve a lower sensitivity to imperfections.The study considers various designs,including diamond-shaped,pyramid-shaped,new Kresling,and pre-embedded rhombic origami tubes,and employs knockdown factors(KDFs)to illustrate the reduction of the design bearing capacity of these structures with initial geometric imperfections for safety purposes.Finite element analysis shows that some of the origami tubes have superior design bearing capacity,mass efficiency,and KDFs when compared to standard circular tubes.Among the origami tubes considered,the rhombic tube demonstrates the best performance and is further studied through parametric analyses of geometric design,aspect ratio,and wall thickness to achieve additional performance enhancements.Furthermore,the superior performance of the rhombic tube is evaluated and verified for various loading scenarios,including eccentric compression and compression-torsion combination.The findings of this study provide a promising approach to designing and fabricating imperfection-insensitive tubes using advanced processing technologies such as additive manufacturing.This work can potentially lead to the development of innovative tubular structures with enhanced safety and reliability in various engineering applications.展开更多
BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants rem...BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants remain unclear.In this study,we identified a point variant in three patients with complete androgen insensitivity syndrome(CAIS),summarized the correlation analysis,and performed a literature review.CASE SUMMARY The proband was raised as a girl.In infancy,she was first referred to hospital with a right inguinal hernia.Ultrasonography revealed the absence of a uterus and ovaries,and a testis-like structure located at the inguinal canal.Further diagnostic workup detected a 46,XY karyotype,and fluorescence in situ hybridization analysis showed the presence of the SRY gene.Histological analysis revealed the excised tissue to be testicular.Twelve years later,she was admitted to our hospital with a lack of breast development.Her pubic hair and breasts were Tanner stage I.She had normal female external genitalia.Blood hormone tests showed normal testosterone levels,low estradiol levels,and high gonadotropin levels.Her two siblings underwent similar examinations,and all three had a rare hemizygous missense mutation in AR:c.2678C>T.In vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation cells.CONCLUSION This case of CAIS was caused by an AR variant(c.2678C>T).Functional studies showed impaired nuclear translocation ability of the mutant protein.展开更多
The electromagnetically induced reflection(EIR)effect of graphene metamaterials has been investigated by finite difference time domain(FDTD)method.In this study,a metamaterial sandwich structure composed of silica(SiO...The electromagnetically induced reflection(EIR)effect of graphene metamaterials has been investigated by finite difference time domain(FDTD)method.In this study,a metamaterial sandwich structure composed of silica(SiO2),gold and graphene on terahertz band is designed.By changing the width of the two ribbons of graphene length and the incident angle of electromagnetic wave,the EIR effect of the structure is discussed,and it can be found that SiO2 is a kind of excellent dielectric material.The simulation results show that graphene metamaterial is not sensitive to polarized incident electromagnetic wave.Therefore,such EIR phenomena as insensitive polarization and large incident angle can be applied to optical communication filters and terahertz devices.展开更多
Background: Androgen insensitivity syndrome(AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor(AR) gene. A variety of tumors have been report...Background: Androgen insensitivity syndrome(AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor(AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer(CRC) have been described.Case presentation: Here, we present a male patient with AIS who developed multiple early-onset CRCs and his pedigree. His first cousin was diagnosed with AIS and harbored the same AR gene mutation, but with no signs of CRC. The difference in clinical management for the two patients was that testosterone treatment was given to the proband for a much longer time compared with the cousin. The CRC family history was negative, and no germline mutations in well-known CRC-related genes were identified. A single nucleotide polymorphism array revealed a microduplication on chromosome 22q11.22 that encompassed a micro RNA potentially related to CRC pathogenesis. In the proband, whole exome sequencing identified a polymorphism in an oncogene and 13 rare loss-of-function variants, of which two were in CRC-related genes and four were in genes associated with other human cancers.Conclusions: By pathway analysis, all inherited germline genetic events were connected in a unique network whose alteration in the proband, together with continuous testosterone stimulation, may have played a role in CRC pathogenesis.展开更多
This paper aims at enhancing impact insensitivity of polytetrafluoroethylene(PTFE)-Mg-W without sacrificing bulk of energy released in the reaction and optimizing mechanical properties of PTFE-Mg-W by magnesium surfac...This paper aims at enhancing impact insensitivity of polytetrafluoroethylene(PTFE)-Mg-W without sacrificing bulk of energy released in the reaction and optimizing mechanical properties of PTFE-Mg-W by magnesium surface treatment.The reaction energy results indicate that the reaction energy of PTFE-Mg-W(modified 1 min)in oxygen decreases slightly to 7905 J·g^(-1)compared with that of PTFE-Mg-W(unmodified)which is8533 J·g^(-1).Under impact condition(impact velocity between 16.232 and 17.726 m·s^(-1)),compared with PTFEMg-W(unmodified),the initiation time before ignition of PTFE-Mg-W(modified 1 min)delays 50μs;the absorbed energy needed for ignition of PTFE-Mg-W(modified1 min)increases by 67.9%.This increase in impact insensitivity of PTFE-Mg-W can be contributed to the formation of passivated layers of magnesium particles after modification which effectively weakens the total interface area among reactive components and partly contributes to the loss of released energy of PTFE-Mg-W after magnesium modification.The quasi-static and dynamic compression results show that PTFE-Mg-W(modified 1 min)possess the highest strength and the best ductility.展开更多
To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymer...To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct DNA sequencing. Four distinct point mutations (Gly743Arg, Va1866Met, Arg752Gln, T2919→deletion) were identified in 4patients, and all the mutations were localized in exons E or G encoding androgen binding domain of AR. The frame-shift mutation caused by deletion of T2919 had not been reported yet so far, therefore, It was a novel mutation. Detection of the AR gene in 2 mothers showed both of them were heterozygotes carrying the same mutationsas their daughters. our study was helpful for further delineating the diversity of genetic alterations of the AR gene in patients with AlS and better understanding the relationships between structure and function of AR.展开更多
A modified double-split ring resonator and a modified triple-split ring resonator, which offer polarization-insensitive performance, are investigated, designed and fabricated. By displacing the two gaps of the convent...A modified double-split ring resonator and a modified triple-split ring resonator, which offer polarization-insensitive performance, are investigated, designed and fabricated. By displacing the two gaps of the conventional double- split ring resonator away from the center, the second resonant frequency for the 0° polarized wave and the resonant frequency for the 90° polarized wave become increasingly close to each other until they are finally identical. Theoretical and experimental results show that the modified double-split ring resonator and the modified triple-split ring resonator are insensitive to different polarized waves and show strong resonant frequency dips near 433 and 444OHz, respectively. The results of this work suggest new opportunities for the investigation and design of polarization-dependent terahertz devices based on split ring resonators.展开更多
Objective:To explore the characteristics of bone mineral density(BMD)and treatment inChinese patients with complete androgen insensitivity syndrome(CAIS).Methods:Fourteen cases of CAIS were studied retrospectively thr...Objective:To explore the characteristics of bone mineral density(BMD)and treatment inChinese patients with complete androgen insensitivity syndrome(CAIS).Methods:Fourteen cases of CAIS were studied retrospectively through analyzing and compa-ring BMD of pre-and post-gonadectomy with healthy Chinese men and women.BMD at the lum-bar spine and the femur were measured by dual energy X-ray absorptiometry(DXA).Results:There were 10 cases of CAIS having pre-gonadectomy DXA,in which 6 cases hadvery significantly reduced lumbar 2-4 BMD[(0.92±0.08)g/cm^2]comparing with both healthymen and women(P<0.01),5 cases had significantly reduced femur neck BMD[(0.89±0.12)g/cm^2]comparing with healthy men(P<0.05).There were 7 cases having 12 post-gonadectomyDXA,in which all lumbar 2-4 BMD[(0.954-0.06)g/cm^2]were reduced very significantly com-paring with both healthy men and women(P<0.01),femur neck BMD[(0.91±0.08)g/cm^2]were also reduced significantly comparing with healthy men(P<0.01)and women(P<0.05).Conclusion:There were different degrees of osteopenia in patients of CAIS,especially inlumbar vertebra.This suggests that both estrogen and androgen play important roles in the ac-quirement and maintenance of peak bone mass.展开更多
Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual dis...Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual disability. Self mutilating behaviors lead to accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis. In pediatrics, amyloidosis usually occurs secondary to chronic inflammatory diseases. The coexistence of amyloidosis and CIPA has not previously been reported in literature. A CIPA case complicated with nephrotic syndrome and renal amyloidosis following chronic osteomyelitis is presented here. This report emphasizes the importance of close follow-up of patients by urine analysis for the risk of developing amyloidosis particularly in the presence of chronic infections.展开更多
Purpose: This study examines quality of life and psychological distress in individuals with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belon...Purpose: This study examines quality of life and psychological distress in individuals with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belonging to the field of “disorders of sex development”. Methods: Fifty women with MRKHS and eleven individuals with CAIS participated. The German versions of the World Health Organization Quality of Life Questionnaire (short version, WHOQOL-Bref), the Brief Symptom Inventory (BSI), and the Patient Health Questionnaire (PHQ-D) were used as standardized instruments to measure quality of life and psychopathology. Additional questions concerning demographic variables and suicidality were included. Results: In both patient samples examined, general quality of life reported was in the average range (CAIS: mean z-score = ﹣0.43, SD = 1.05;MRKHS: mean z-score = ﹣0.11, SD = 1.06). The standardized instrument assessment revealed increased psychological distress (proportion of clinical cases according to the BSI: CAIS: 54.5%;MRKHS: 55.1%). A correlation between psychological distress and time span from first suspicion to diagnosis was found in women with MRKHS (Spearman’s rho = 0.35, p = 0.018). Conclusions: The results illustrate the importance of individualised and thorough diagnostics when dealing with patients with MRKHS or CAIS. Psychological distress might be an issue for these individuals and therefore should be considered in treatment and counselling.展开更多
A high-birefringence fiber,Tb:YAG crystal-derived silica fiber(TYDSF),was fabricated by CO_(2)laser-heating drawing technique.Its linear birefringence was 2.99×10^(-5),and it was used to fabricate an all-fiber qu...A high-birefringence fiber,Tb:YAG crystal-derived silica fiber(TYDSF),was fabricated by CO_(2)laser-heating drawing technique.Its linear birefringence was 2.99×10^(-5),and it was used to fabricate an all-fiber quarter-wave plate(QWP)device.The polarization extinction ratio(PER)of the device was 0.29 dB,and its ellipticity was 44.26°at 25℃.In the temperature range of-5℃to 200℃,its PER was always less than 0.80 dB,and the fluctuation of PER and ellipticity was also small.Compared with QWPs fabricated with PANDA-type polarization-maintaining fiber(PMF)and elliptical-core PMF,the performance of TYDSF QWP was least sensitive to temperature.Furthermore,the TYDSF QWP was used in a high-power laser system,still maintaining good circular polarization state,and the nonlinear effects were suppressed in the system.The experimental results are of great significance to high-power lasers,fiber-optic current sensors,etc.,in harsh environments.展开更多
This paper presents a tunable and polarization-insensitive wideband metamaterial absorber based on single-layer graphene.By comparing the simulated experimental data with theoretical derivations,it was found that the ...This paper presents a tunable and polarization-insensitive wideband metamaterial absorber based on single-layer graphene.By comparing the simulated experimental data with theoretical derivations,it was found that the absorbance of the material can be sustained above 90%in the frequency range of 2.78 to 7.14(4.36)THz,of which the absorption rate exceeds 99%in the frequency range of 4.1–4.54(0.44)THz,and remarkably,perfect absorption is achieved at4.32 THz.In the range of 2.78–7.14 THz,the average absorption rate is 96.1%,by adjusting the physical size of the graphene layer pattern,we can modify the working band gap of the absorber.By applying a voltage to modulate the Fermi level of graphene,we can increase the absorption bandwidth.When the chemical potential is 1.0 e V,at the bandwidth of 4.36 THz,its absorption rate exceeds 90%.The working principle of absorbing materials was deeply explored using the principles of electromagnetic field distribution and impedance adaptation.Through detailed analysis of different polarization states and incident angles,we found that the absorber is not sensitive to polarization due to its symmetrical structure,and found that it exhibits low sensitivity at incidence angles.In addition,after comparative analysis,significant differences were observed in the absorption efficiency of the absorber under various relaxation time conditions,and the obtained data were elaborated in detail using the carrier mechanism of plasma vibration.We found that in addition to obtaining an almost perfect absorber with wide band by adjusting the parameters,it is also feasible to obtain an approximately narrow band absorber by changing the relaxation time without having to remanufacture the structure.The absorber offers several advantages,including tunability,a wide absorption band,a high absorption rate,polarization insensitivity,and a simple structure.Therefore,this absorber exhibits great potential for absorption,monitoring,and sensing in the terahertz band.展开更多
Methamidophos resistance of brown planthopper ( Nilaparvata lugens Stl, BPH) was selected in laboratory. After successive selection for 9 generations, the selection was ceased by rearing BPH without contact with an...Methamidophos resistance of brown planthopper ( Nilaparvata lugens Stl, BPH) was selected in laboratory. After successive selection for 9 generations, the selection was ceased by rearing BPH without contact with any insecticide for 9 generations. In the full course, the successive changes of esterase activity, MFO activity, GSTs activity and AChE insensitivity were analyzed. The results showed that the change of esterase activity was high correlated with that of methamidophos in the full course, which indicated that esterase played very important role both in the resistance development and in the resistance decline. However, the change of AChE insensitivity only significantly correlated with that of resistance in the development stage, and the change of MFO activity or GSTs activity only significantly correlated with that of the resistance in the decline stage, which indicated the changes of AChE insensitivity, MFO activity or GSTs activity only played some roles in different stages of the resistance change.展开更多
We investigated the androgen receptor(AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome(AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed...We investigated the androgen receptor(AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome(AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes(Prader grade 0–3). Patients and some family members were screened via amplification and sequencing of their AR exons 1–8, including the corresponding intronic flanking regions. Luteinizing(LH), follicle-stimulating(FSH), and testosterone(T) hormone levels were found to be slightly, but not significantly, higher in patients with complete androgen insensitivity syndrome(CAIS) than in patients with partial androgen insensitivity syndrome(PAIS)(P>0.05). We identified 24 different AR mutations, including 12 that were novel. Ten patients(cases 2, 3, 10, 28, 11, 12, 19, 20, 24, and 25) were found to carry five recurrent mutations(p.Y572 S, p.P914 S, p.S176 R, p.Y782 N, and p.R841H); of these, p.Y572 S, p.S176 R, and p.Y782 N were novel. Among the mutations identified in patients with CAIS, six(66.7%) were characterized as single-nucleotide missense mutations, and six(66.7%) were found to be located in the AR ligand-binding domain(LBD). Among the mutations identified in patients with PAIS, 15(93.8%) were found to be missense, and 11(68.8%) were found to be located in the LBD. Patients 10 and 28 were determined to harbor the same missense mutation(p.P914S), but were diagnosed with CAIS and PAIS, respectively.Sex hormone levels were slightly, but not significantly, elevated in patients with CAIS compared to those with PAIS. Missense mutations spanning AR exons 1–8 were the predominant form of identified mutations, and these were mostly located in the AR LBD. Approximately 50% of the identified mutations were novel, and have enriched the AR gene-mutation database. Patients harboring identical mutations were in some instances found to exhibit divergent phenotypes.展开更多
基金Supported by the Quzhou Science and Technology Plan Project,No.2022K69.
文摘Familial androgen insensitivity syndrome (AIS), resulting from inherited mutations in the androgen receptor (AR)gene, has traditionally been examined within the framework of disorders of sex development. However, growingevidence indicates that AR dysfunction also disrupts systemic metabolic homeostasis, predisposing affectedindividuals to insulin resistance and type 2 diabetes mellitus. This article synthesizes recent advances in genetics,transcriptomics, and physiology to elucidate how AR mutations drive tissue-specific metabolic reprogramming inkey organs, including pancreatic β-cells, skeletal muscle, liver, and adipose tissue. Particular attention is given to anewly identified familial AR variant (c.2117A>G;p.Asn706Ser), which not only broadens the known mutationalspectrum of AIS but also underscores the clinical importance of early metabolic risk screening in this population.We further examine how pubertal stage, hormone replacement therapy, and sex-specific signaling pathwaysinteract to influence long-term metabolic outcomes. Lastly, we propose an integrative management framework thatincorporates genetic diagnosis, endocrine surveillance, and personalized pharmacological strategies aimed atreducing the risk of type 2 diabetes mellitus and cardiometabolic complications in individuals with AIS. Distinctfrom previous AIS-centered reviews, this work integrates metabolic and endocrine perspectives into the traditionaldevelopmental paradigm, offering a more comprehensive understanding of disease risk and translational management.
基金The authors are grateful to the patients and their family members for participating in this study. This study was supported by grants from the National Natural Science Foundation of China （81771645 and 81471432 to YQT）.
文摘Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel （c.2112 C〉G[p.STO4R], c.2290T〉A[p.Y764N], c.2626C〉T[p.Q876X], c.933dupC[p.K313Qfs＊28], and c.1067delC[p.A356Efs＊123]）; the other five were previously reported （c.1789G〉A[p.A597T], c.2566C〉T[p.R856C], c.2668G〉A[p.V890M], c.2679C〉T[p.P893L], and c.1605C〉G[p.Y535X]）. Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% （3/10） of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.
文摘Mutations in the X-linked androgen receptor （AR） gene cause androgen insensitivity syndrome （AIS）, resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity （CAIS） produces a female external phenotype, whereas cases with partial androgen insensitivity （PALS） have various ambiguities of the genitalia. Mild androgen insensitivity （MAIS） is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone （T） and dihydrotestosterone （DHT） synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.
基金supported by the National Natural Science Foundation of China(Nos. 21875216, 21734008, 21474088, 51473142, 51561145001, 51620105006, 61721005)Zhejiang Province Science and Technology Plan(No.2018C01047)Research Grant Council of Hong Kong(General Research Fund No. 14314216, CUHK Direct Grant No. 4053227)
文摘Poly(3-hexylthiophene)(P3HT) is a low-cost polymer donor for organic solar cells (OSCs). However, the P3HT-based OSCs usually give low power conversion efficiencies (PCEs) due to the wide bandgap and the high-lying energy levels of P3HT. To solve this problem, in this work, we design and synthesize a new A-D-A type non-fullerene acceptor, DFPCBR, which owns an electron-donating (D) core constructed by linking a 2,5-difluorobenzene ring with two cyclopentadithiophene moieties, and two electron-accepting (A) end-groups of benzo[c][1,2,5]thiadiazole connected with 3-ethyl-2-thioxothiazolidin-4-one. Because of the strong electron-donating ability and large conjugation effect of D core, DFPCBR shows appropriate energy levels and a narrow bandgap matching well with those of P3HT. Therefore, with P3HT as the donor and DFPCBR as the acceptor, the OSCs possess broad absorption range from 350 nm to 780 nm and the reduced energy loss (Eloss) of 0.79 eV (compared with ~1.40 eV for the P3HT:PC61BM device), providing a good PCE of 5.34% with a high open-circuit voltage (VOC) of 0.80 V. Besides, we observe that the photovoltaic performances of these devices are insensitive to the thickness of the active layers:even if the active layer is as thick as 320 nm,~80%of the best PCE is maintained, which is rarely reported for fullerene-free P3HT-based OSCs, suggesting that DFPCBR has the potential application in commercial OSCs in the future.
文摘Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction （PCR） amplification followed by allelic genotyping to determine allele length. Results： Our study revealed significantly shorter mean lengths of CAG repeats in patients （mean 18.25 repeats, range 14-26 repeats） in comparison to the controls （mean 22.57 repeats, range 12-39 repeats） （two-tailed P 〈 0.0001）. GGN repeats, however, did not differ significantly between patients （mean 21.48 repeats） and controls （mean 21.21 repeats） （two- tailed P = 0.474）. Among patients＇ groups, the mean number of CAG repeats in partial androgen insensitivity cases （mean 15.83 repeats） was significantly less than in complete androgen insensitivity cases （mean 19.46 repeats） （two- tailed P 〈 0.0001）. Conclusion： The findings suggest that shorter lengths of repeats in the AR gene might act as low penetrance genetic background in varying manifestation of androgen insensitivity.
文摘Pelvic osteotomy is commonly used to adjust acetabula dysplasia for congenital dislocation of the hip, whereas congenital insensitivity to pain with anhidrosis(CIPA) is a rare hereditary disease that often has the characteristics of joint development deformity and easy fracture. This article reports the case involving a CIPA patient who was surgically treated by Chiari pelvic osteotomy and proximal femoral rotation osteotomy for congenital dislocation of the left hip joint and was provided long-term follow-up for redislocation and bilateral femoral head absorption.
基金supported by the National Natural Science Foundation of China(Grant No.U1937202)Key Industrial Technology Research&Development Cooperation Projects of Jiangsu Province(BZ2021036)Basic Research Projects on Free Exploration of Funds for Local Scientific and Technological Development Guided by the Central Government(2021Szvup027).
文摘Axially loaded tubular structures are known to be highly sensitive to initial geometric imperfections,which can significantly reduce their design bearing capacity.To address this issue,this study explores the potential of an origami-inspired design for tubular structures to achieve a lower sensitivity to imperfections.The study considers various designs,including diamond-shaped,pyramid-shaped,new Kresling,and pre-embedded rhombic origami tubes,and employs knockdown factors(KDFs)to illustrate the reduction of the design bearing capacity of these structures with initial geometric imperfections for safety purposes.Finite element analysis shows that some of the origami tubes have superior design bearing capacity,mass efficiency,and KDFs when compared to standard circular tubes.Among the origami tubes considered,the rhombic tube demonstrates the best performance and is further studied through parametric analyses of geometric design,aspect ratio,and wall thickness to achieve additional performance enhancements.Furthermore,the superior performance of the rhombic tube is evaluated and verified for various loading scenarios,including eccentric compression and compression-torsion combination.The findings of this study provide a promising approach to designing and fabricating imperfection-insensitive tubes using advanced processing technologies such as additive manufacturing.This work can potentially lead to the development of innovative tubular structures with enhanced safety and reliability in various engineering applications.
基金the key Research and Development Program of Zhejiang Province,No.2020C03121.
文摘BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants remain unclear.In this study,we identified a point variant in three patients with complete androgen insensitivity syndrome(CAIS),summarized the correlation analysis,and performed a literature review.CASE SUMMARY The proband was raised as a girl.In infancy,she was first referred to hospital with a right inguinal hernia.Ultrasonography revealed the absence of a uterus and ovaries,and a testis-like structure located at the inguinal canal.Further diagnostic workup detected a 46,XY karyotype,and fluorescence in situ hybridization analysis showed the presence of the SRY gene.Histological analysis revealed the excised tissue to be testicular.Twelve years later,she was admitted to our hospital with a lack of breast development.Her pubic hair and breasts were Tanner stage I.She had normal female external genitalia.Blood hormone tests showed normal testosterone levels,low estradiol levels,and high gonadotropin levels.Her two siblings underwent similar examinations,and all three had a rare hemizygous missense mutation in AR:c.2678C>T.In vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation cells.CONCLUSION This case of CAIS was caused by an AR variant(c.2678C>T).Functional studies showed impaired nuclear translocation ability of the mutant protein.
基金Research Project of Anhui Province Education Department(No.KJ2020A0684)Innovation and Entrepreneurship Training Program for College Students(Nos.S201910375072,201910375050,201910375052,202010375030)。
文摘The electromagnetically induced reflection(EIR)effect of graphene metamaterials has been investigated by finite difference time domain(FDTD)method.In this study,a metamaterial sandwich structure composed of silica(SiO2),gold and graphene on terahertz band is designed.By changing the width of the two ribbons of graphene length and the incident angle of electromagnetic wave,the EIR effect of the structure is discussed,and it can be found that SiO2 is a kind of excellent dielectric material.The simulation results show that graphene metamaterial is not sensitive to polarized incident electromagnetic wave.Therefore,such EIR phenomena as insensitive polarization and large incident angle can be applied to optical communication filters and terahertz devices.
基金supported in part by funds obtained through an Italian law that allows taxpayers to allocate 0.5 percent share of their income tax contribution to a research institution of their choice
文摘Background: Androgen insensitivity syndrome(AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor(AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer(CRC) have been described.Case presentation: Here, we present a male patient with AIS who developed multiple early-onset CRCs and his pedigree. His first cousin was diagnosed with AIS and harbored the same AR gene mutation, but with no signs of CRC. The difference in clinical management for the two patients was that testosterone treatment was given to the proband for a much longer time compared with the cousin. The CRC family history was negative, and no germline mutations in well-known CRC-related genes were identified. A single nucleotide polymorphism array revealed a microduplication on chromosome 22q11.22 that encompassed a micro RNA potentially related to CRC pathogenesis. In the proband, whole exome sequencing identified a polymorphism in an oncogene and 13 rare loss-of-function variants, of which two were in CRC-related genes and four were in genes associated with other human cancers.Conclusions: By pathway analysis, all inherited germline genetic events were connected in a unique network whose alteration in the proband, together with continuous testosterone stimulation, may have played a role in CRC pathogenesis.
基金financially supported by the National Natural Science Foundation of China(Nos.51571033,11521062)。
文摘This paper aims at enhancing impact insensitivity of polytetrafluoroethylene(PTFE)-Mg-W without sacrificing bulk of energy released in the reaction and optimizing mechanical properties of PTFE-Mg-W by magnesium surface treatment.The reaction energy results indicate that the reaction energy of PTFE-Mg-W(modified 1 min)in oxygen decreases slightly to 7905 J·g^(-1)compared with that of PTFE-Mg-W(unmodified)which is8533 J·g^(-1).Under impact condition(impact velocity between 16.232 and 17.726 m·s^(-1)),compared with PTFEMg-W(unmodified),the initiation time before ignition of PTFE-Mg-W(modified 1 min)delays 50μs;the absorbed energy needed for ignition of PTFE-Mg-W(modified1 min)increases by 67.9%.This increase in impact insensitivity of PTFE-Mg-W can be contributed to the formation of passivated layers of magnesium particles after modification which effectively weakens the total interface area among reactive components and partly contributes to the loss of released energy of PTFE-Mg-W after magnesium modification.The quasi-static and dynamic compression results show that PTFE-Mg-W(modified 1 min)possess the highest strength and the best ductility.
文摘To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct DNA sequencing. Four distinct point mutations (Gly743Arg, Va1866Met, Arg752Gln, T2919→deletion) were identified in 4patients, and all the mutations were localized in exons E or G encoding androgen binding domain of AR. The frame-shift mutation caused by deletion of T2919 had not been reported yet so far, therefore, It was a novel mutation. Detection of the AR gene in 2 mothers showed both of them were heterozygotes carrying the same mutationsas their daughters. our study was helpful for further delineating the diversity of genetic alterations of the AR gene in patients with AlS and better understanding the relationships between structure and function of AR.
基金Supported by the National High-Technology Research and Development Program of China under Grant No 2011AA010204the National Natural Science Foundation of China under Grant No 91438118
文摘A modified double-split ring resonator and a modified triple-split ring resonator, which offer polarization-insensitive performance, are investigated, designed and fabricated. By displacing the two gaps of the conventional double- split ring resonator away from the center, the second resonant frequency for the 0° polarized wave and the resonant frequency for the 90° polarized wave become increasingly close to each other until they are finally identical. Theoretical and experimental results show that the modified double-split ring resonator and the modified triple-split ring resonator are insensitive to different polarized waves and show strong resonant frequency dips near 433 and 444OHz, respectively. The results of this work suggest new opportunities for the investigation and design of polarization-dependent terahertz devices based on split ring resonators.
文摘Objective:To explore the characteristics of bone mineral density(BMD)and treatment inChinese patients with complete androgen insensitivity syndrome(CAIS).Methods:Fourteen cases of CAIS were studied retrospectively through analyzing and compa-ring BMD of pre-and post-gonadectomy with healthy Chinese men and women.BMD at the lum-bar spine and the femur were measured by dual energy X-ray absorptiometry(DXA).Results:There were 10 cases of CAIS having pre-gonadectomy DXA,in which 6 cases hadvery significantly reduced lumbar 2-4 BMD[(0.92±0.08)g/cm^2]comparing with both healthymen and women(P<0.01),5 cases had significantly reduced femur neck BMD[(0.89±0.12)g/cm^2]comparing with healthy men(P<0.05).There were 7 cases having 12 post-gonadectomyDXA,in which all lumbar 2-4 BMD[(0.954-0.06)g/cm^2]were reduced very significantly com-paring with both healthy men and women(P<0.01),femur neck BMD[(0.91±0.08)g/cm^2]were also reduced significantly comparing with healthy men(P<0.01)and women(P<0.05).Conclusion:There were different degrees of osteopenia in patients of CAIS,especially inlumbar vertebra.This suggests that both estrogen and androgen play important roles in the ac-quirement and maintenance of peak bone mass.
文摘Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual disability. Self mutilating behaviors lead to accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis. In pediatrics, amyloidosis usually occurs secondary to chronic inflammatory diseases. The coexistence of amyloidosis and CIPA has not previously been reported in literature. A CIPA case complicated with nephrotic syndrome and renal amyloidosis following chronic osteomyelitis is presented here. This report emphasizes the importance of close follow-up of patients by urine analysis for the risk of developing amyloidosis particularly in the presence of chronic infections.
文摘Purpose: This study examines quality of life and psychological distress in individuals with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belonging to the field of “disorders of sex development”. Methods: Fifty women with MRKHS and eleven individuals with CAIS participated. The German versions of the World Health Organization Quality of Life Questionnaire (short version, WHOQOL-Bref), the Brief Symptom Inventory (BSI), and the Patient Health Questionnaire (PHQ-D) were used as standardized instruments to measure quality of life and psychopathology. Additional questions concerning demographic variables and suicidality were included. Results: In both patient samples examined, general quality of life reported was in the average range (CAIS: mean z-score = ﹣0.43, SD = 1.05;MRKHS: mean z-score = ﹣0.11, SD = 1.06). The standardized instrument assessment revealed increased psychological distress (proportion of clinical cases according to the BSI: CAIS: 54.5%;MRKHS: 55.1%). A correlation between psychological distress and time span from first suspicion to diagnosis was found in women with MRKHS (Spearman’s rho = 0.35, p = 0.018). Conclusions: The results illustrate the importance of individualised and thorough diagnostics when dealing with patients with MRKHS or CAIS. Psychological distress might be an issue for these individuals and therefore should be considered in treatment and counselling.
基金supported by the National Natural Science Foundation of China(Nos.61935002,61975113,and 62275148)111 Project(No.D20031)+1 种基金the Shanghai Professional Technical Public Service Platform of Advanced Optical Waveguide Intelligent Manufacturing and Testing(No.19DZ2294000)the Jiangsu Province’s Industry Outlook and Key Core Technologies–Key Projects(No.BE2022055-4)。
文摘A high-birefringence fiber,Tb:YAG crystal-derived silica fiber(TYDSF),was fabricated by CO_(2)laser-heating drawing technique.Its linear birefringence was 2.99×10^(-5),and it was used to fabricate an all-fiber quarter-wave plate(QWP)device.The polarization extinction ratio(PER)of the device was 0.29 dB,and its ellipticity was 44.26°at 25℃.In the temperature range of-5℃to 200℃,its PER was always less than 0.80 dB,and the fluctuation of PER and ellipticity was also small.Compared with QWPs fabricated with PANDA-type polarization-maintaining fiber(PMF)and elliptical-core PMF,the performance of TYDSF QWP was least sensitive to temperature.Furthermore,the TYDSF QWP was used in a high-power laser system,still maintaining good circular polarization state,and the nonlinear effects were suppressed in the system.The experimental results are of great significance to high-power lasers,fiber-optic current sensors,etc.,in harsh environments.
基金the support form the National Natural Science Foundation of China(Grant Nos.51606158,11604311,12074151)the Funded by the Guangxi Science and Technology Base and Talent Special Project(Grant No.AD21075009)+3 种基金the funded by the Sichuan Science and Technology Program(Grant No.2021JDRC0022)the Open Fund of the Key Laboratory for Metallurgical Equipment and Control Technology of Ministry of Education in Wuhan University of Science and Technology,China(Grant Nos.MECOF2022B01MECOF2023B04)the Project supported by Guangxi Key Laboratory of Precision Navigation Technology and Application,Guilin University of Electronic Technology(Grant No.DH202321)。
文摘This paper presents a tunable and polarization-insensitive wideband metamaterial absorber based on single-layer graphene.By comparing the simulated experimental data with theoretical derivations,it was found that the absorbance of the material can be sustained above 90%in the frequency range of 2.78 to 7.14(4.36)THz,of which the absorption rate exceeds 99%in the frequency range of 4.1–4.54(0.44)THz,and remarkably,perfect absorption is achieved at4.32 THz.In the range of 2.78–7.14 THz,the average absorption rate is 96.1%,by adjusting the physical size of the graphene layer pattern,we can modify the working band gap of the absorber.By applying a voltage to modulate the Fermi level of graphene,we can increase the absorption bandwidth.When the chemical potential is 1.0 e V,at the bandwidth of 4.36 THz,its absorption rate exceeds 90%.The working principle of absorbing materials was deeply explored using the principles of electromagnetic field distribution and impedance adaptation.Through detailed analysis of different polarization states and incident angles,we found that the absorber is not sensitive to polarization due to its symmetrical structure,and found that it exhibits low sensitivity at incidence angles.In addition,after comparative analysis,significant differences were observed in the absorption efficiency of the absorber under various relaxation time conditions,and the obtained data were elaborated in detail using the carrier mechanism of plasma vibration.We found that in addition to obtaining an almost perfect absorber with wide band by adjusting the parameters,it is also feasible to obtain an approximately narrow band absorber by changing the relaxation time without having to remanufacture the structure.The absorber offers several advantages,including tunability,a wide absorption band,a high absorption rate,polarization insensitivity,and a simple structure.Therefore,this absorber exhibits great potential for absorption,monitoring,and sensing in the terahertz band.
文摘Methamidophos resistance of brown planthopper ( Nilaparvata lugens Stl, BPH) was selected in laboratory. After successive selection for 9 generations, the selection was ceased by rearing BPH without contact with any insecticide for 9 generations. In the full course, the successive changes of esterase activity, MFO activity, GSTs activity and AChE insensitivity were analyzed. The results showed that the change of esterase activity was high correlated with that of methamidophos in the full course, which indicated that esterase played very important role both in the resistance development and in the resistance decline. However, the change of AChE insensitivity only significantly correlated with that of resistance in the development stage, and the change of MFO activity or GSTs activity only significantly correlated with that of the resistance in the decline stage, which indicated the changes of AChE insensitivity, MFO activity or GSTs activity only played some roles in different stages of the resistance change.
基金supported by the Public Health Project for Residents in Beijing (Z151100003915103)the National Key Research and Development Program of China (2016YFC0901505)
文摘We investigated the androgen receptor(AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome(AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes(Prader grade 0–3). Patients and some family members were screened via amplification and sequencing of their AR exons 1–8, including the corresponding intronic flanking regions. Luteinizing(LH), follicle-stimulating(FSH), and testosterone(T) hormone levels were found to be slightly, but not significantly, higher in patients with complete androgen insensitivity syndrome(CAIS) than in patients with partial androgen insensitivity syndrome(PAIS)(P>0.05). We identified 24 different AR mutations, including 12 that were novel. Ten patients(cases 2, 3, 10, 28, 11, 12, 19, 20, 24, and 25) were found to carry five recurrent mutations(p.Y572 S, p.P914 S, p.S176 R, p.Y782 N, and p.R841H); of these, p.Y572 S, p.S176 R, and p.Y782 N were novel. Among the mutations identified in patients with CAIS, six(66.7%) were characterized as single-nucleotide missense mutations, and six(66.7%) were found to be located in the AR ligand-binding domain(LBD). Among the mutations identified in patients with PAIS, 15(93.8%) were found to be missense, and 11(68.8%) were found to be located in the LBD. Patients 10 and 28 were determined to harbor the same missense mutation(p.P914S), but were diagnosed with CAIS and PAIS, respectively.Sex hormone levels were slightly, but not significantly, elevated in patients with CAIS compared to those with PAIS. Missense mutations spanning AR exons 1–8 were the predominant form of identified mutations, and these were mostly located in the AR LBD. Approximately 50% of the identified mutations were novel, and have enriched the AR gene-mutation database. Patients harboring identical mutations were in some instances found to exhibit divergent phenotypes.
