Molecular defects in thyroid dysgenesis

Epidemiology of thyroid dysgenesis: the familial component.

The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...

Congenital Hypothyroidism due to Thyroid Dysgenesis: From Epidemiology to Molecular Mechanisms

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a select few have been associated with thyroid dysgenesis, among which the p.A119S variation. We sequenced NKX2-5 in 303 sporadic CHD patients and 38 families with at least two indi...

Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis

OBJECTIVE Congenital hypothyroidism (CH) is a frequent neonatal endocrine disease with an incidence of about 1:2500 worldwide. Although thyroid dysgenesis (TD) is the most frequent cause of CH cases, its pathogenesis remains unclear. The aim of this study was to screen the hematopoietically-expressedhomeobox gene (HHEX) mutations in Chinese children with TD. METHODS Genomic deoxyribonucleic a...

Advanced maternal age in Indian children with thyroid dysgenesis

A retrospective review of medical records of 80 children with thyroid dysgenesis (TD) was conducted to determine the association of gender and maternal age with TD. The study subjects were attending the Pediatric Endocrinology Clinic of our hospital which is a large tertiary care Multispecialty Pediatric Center located in Chandigarh, Northwest India. There were no gender differences (boys to gi...