A 16-year-old "female" patient presented as hypertension,hypokalemia,male pseudohermaphroditism,lowered gonadal steroids and cortisol,elevated adre nocorticotropic hormone and pituitary gonadotropin,and 46 X...A 16-year-old "female" patient presented as hypertension,hypokalemia,male pseudohermaphroditism,lowered gonadal steroids and cortisol,elevated adre nocorticotropic hormone and pituitary gonadotropin,and 46 XY karyotype.The pat ient was diagnosed as 17α-hydroxylase deficiency,a rare case of congenital ad r enal hyperplasia."She" chose to remain female appearance and social gender af te r negotiation with the parents.Cryptor-chidism of both inguinal canals was surgi cally removed for preventing canceration.After the surgery,a very small daily dose of dexamethasone(0.187 5 mg at bedtime)was enough to control hypertension and hypokalemia,and the therapy of conjugated estrogens(Premarin)was given t o promote the development of female characters.After 6 months of treatment,nor motension and normokalemia remained,and pubarche and mammogenesis emerged.展开更多
目的探讨先天性类脂质性肾上腺皮质增生症患儿的临床及类固醇生成急性调控蛋白(steroidogenic acute regulatory protein,StAR)基因突变特点。方法收集2例先天性类脂质性肾上腺皮质增生症患儿临床资料,采集患儿及其父母静脉血2mL,用二...目的探讨先天性类脂质性肾上腺皮质增生症患儿的临床及类固醇生成急性调控蛋白(steroidogenic acute regulatory protein,StAR)基因突变特点。方法收集2例先天性类脂质性肾上腺皮质增生症患儿临床资料,采集患儿及其父母静脉血2mL,用二代测序技术对2例患儿44个肾上腺皮质功能减退相关基因的外显子及其相邻内含子进行检测,对所检出的StAR基因突变用sanger测序验证,并对患儿父母StAR基因进行验证分析;对StAR基因突变相关文献进行复习。结果 2例患儿均为46XX女性,均为新生儿期发病;以皮肤色素沉着、呕吐、体重不增等肾上腺皮质功能减退症状为主要表现;实验室检查示血低钠高钾、促肾上腺皮质激素显著增高,皮质醇及17羟孕酮降低,睾酮、雄烯二酮、脱氢表雄酮等各雄性激素不高;经皮质激素氢化可的松及9α-氟氢可的松替代治疗后生长正常;母妊娠史及患儿出生史、家族史无特殊。StAR基因突变分析显示病例1为c.229G>A(p.Q77X)及c.772G>A(p.Q258X)复合杂合已知致病突变;病例2为c.707_708delAG ins CTT(p.K236Tfs*47)纯合已知致病突变;2例患儿父母均为突变携带者。结合中国已报道13例StAR基因突变患儿,c.772G>A(p.Q258X)突变发生率为53.3%(8/15),c.707_708delAG ins CTT(p.K236Tfs*47)发生率为33.3%(5/15)。结论17羟孕酮及雄性激素不高的原发性肾上腺皮质功能减退患儿,尤其是女性表型者,应行染色体及StAR基因检测;c.772C>T(p.Q258X)及c.707_708delAG ins CTT(p.K236Tfs*47)突变可能为中国StAR基因突变热点;适当皮质激素替代治疗可使患儿长期生存、生长正常。展开更多
文摘A 16-year-old "female" patient presented as hypertension,hypokalemia,male pseudohermaphroditism,lowered gonadal steroids and cortisol,elevated adre nocorticotropic hormone and pituitary gonadotropin,and 46 XY karyotype.The pat ient was diagnosed as 17α-hydroxylase deficiency,a rare case of congenital ad r enal hyperplasia."She" chose to remain female appearance and social gender af te r negotiation with the parents.Cryptor-chidism of both inguinal canals was surgi cally removed for preventing canceration.After the surgery,a very small daily dose of dexamethasone(0.187 5 mg at bedtime)was enough to control hypertension and hypokalemia,and the therapy of conjugated estrogens(Premarin)was given t o promote the development of female characters.After 6 months of treatment,nor motension and normokalemia remained,and pubarche and mammogenesis emerged.
文摘目的探讨先天性类脂质性肾上腺皮质增生症患儿的临床及类固醇生成急性调控蛋白(steroidogenic acute regulatory protein,StAR)基因突变特点。方法收集2例先天性类脂质性肾上腺皮质增生症患儿临床资料,采集患儿及其父母静脉血2mL,用二代测序技术对2例患儿44个肾上腺皮质功能减退相关基因的外显子及其相邻内含子进行检测,对所检出的StAR基因突变用sanger测序验证,并对患儿父母StAR基因进行验证分析;对StAR基因突变相关文献进行复习。结果 2例患儿均为46XX女性,均为新生儿期发病;以皮肤色素沉着、呕吐、体重不增等肾上腺皮质功能减退症状为主要表现;实验室检查示血低钠高钾、促肾上腺皮质激素显著增高,皮质醇及17羟孕酮降低,睾酮、雄烯二酮、脱氢表雄酮等各雄性激素不高;经皮质激素氢化可的松及9α-氟氢可的松替代治疗后生长正常;母妊娠史及患儿出生史、家族史无特殊。StAR基因突变分析显示病例1为c.229G>A(p.Q77X)及c.772G>A(p.Q258X)复合杂合已知致病突变;病例2为c.707_708delAG ins CTT(p.K236Tfs*47)纯合已知致病突变;2例患儿父母均为突变携带者。结合中国已报道13例StAR基因突变患儿,c.772G>A(p.Q258X)突变发生率为53.3%(8/15),c.707_708delAG ins CTT(p.K236Tfs*47)发生率为33.3%(5/15)。结论17羟孕酮及雄性激素不高的原发性肾上腺皮质功能减退患儿,尤其是女性表型者,应行染色体及StAR基因检测;c.772C>T(p.Q258X)及c.707_708delAG ins CTT(p.K236Tfs*47)突变可能为中国StAR基因突变热点;适当皮质激素替代治疗可使患儿长期生存、生长正常。
