Background Thyroid hormones are critical for early neurocognitive development as well as growth and development throughout childhood.Prompt recognition and treatment of hypothyroidism is,therefore,of utmost importance...Background Thyroid hormones are critical for early neurocognitive development as well as growth and development throughout childhood.Prompt recognition and treatment of hypothyroidism is,therefore,of utmost importance to optimize physical and neurodevelopmental outcomes.Data sources A PubMed search was completed in Clinical Queries using the key terms 'hypothyroidism'.Results Hypothyroidism may be present at birth (congenital hypothyroidism) or develop later in life (acquired hypothyroidism).Thyroid dysgenesis and dyshormonogenesis account for approximately 85% and 15% of permanent cases of congenital primary hypothyroidism,respectively.More than 95% of infants with congenital hypothyroidism have few,if any,clinical manifestations of hypothyroidism.Newborn screening programs allow early detection of congenital hypothyroidism.In developed countries,Hashimoto thyroiditis is the most common cause of goiter and acquired hypothyroidism in children and adolescents.Globally,iodine deficiency associated with goiter is the most common cause of hypothyroidism.Central hypothyroidism is uncommon and may be associated with other congenital syndromes and deficiencies of other pituitary hormones.Familiarity of the clinical features would allow prompt diagnosis and institution of treatment.Conclusions To optimize neurocognitive outcome in infants with congenital hypothyroidism,treatment with levothyroxine should be started as soon as possible,preferably within the first 2 weeks of life.Children with acquired hypothyroidism should also be treated early to ensure normal growth and development as well as cognitive outcome.The target is to keep serum TSH < 5 mIU/L and to maintain serum free T4 or total T4 within the upper half of the age-specific reference range,with elimination of all symptoms and signs of hypothyroidism.展开更多
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid...Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.展开更多
文摘Background Thyroid hormones are critical for early neurocognitive development as well as growth and development throughout childhood.Prompt recognition and treatment of hypothyroidism is,therefore,of utmost importance to optimize physical and neurodevelopmental outcomes.Data sources A PubMed search was completed in Clinical Queries using the key terms 'hypothyroidism'.Results Hypothyroidism may be present at birth (congenital hypothyroidism) or develop later in life (acquired hypothyroidism).Thyroid dysgenesis and dyshormonogenesis account for approximately 85% and 15% of permanent cases of congenital primary hypothyroidism,respectively.More than 95% of infants with congenital hypothyroidism have few,if any,clinical manifestations of hypothyroidism.Newborn screening programs allow early detection of congenital hypothyroidism.In developed countries,Hashimoto thyroiditis is the most common cause of goiter and acquired hypothyroidism in children and adolescents.Globally,iodine deficiency associated with goiter is the most common cause of hypothyroidism.Central hypothyroidism is uncommon and may be associated with other congenital syndromes and deficiencies of other pituitary hormones.Familiarity of the clinical features would allow prompt diagnosis and institution of treatment.Conclusions To optimize neurocognitive outcome in infants with congenital hypothyroidism,treatment with levothyroxine should be started as soon as possible,preferably within the first 2 weeks of life.Children with acquired hypothyroidism should also be treated early to ensure normal growth and development as well as cognitive outcome.The target is to keep serum TSH < 5 mIU/L and to maintain serum free T4 or total T4 within the upper half of the age-specific reference range,with elimination of all symptoms and signs of hypothyroidism.
基金Athanasia Stoupa received a research grant from the European Society for Paediatric Endocrinology (ESPE). Aurore Carré, Dulanjalee Kariyawasam, and Michel Polak received funding from Sandoz SAS and Merck Serono France, the French Society of Endocrinology and Paediatric Diabetology (SFEDP), and the French National Research Agency (ANR-21-CE14-0055-01-MITHY-PLA) .
文摘Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.
