[Pathogenic TSHR variants in children with thyroid dysgenesis]

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Context:

• Congenital hypothyroidism (CH) in children can result from TSH receptor gene (TSHR) loss-of-function mutations, leading to thyroid dysgenesis.
• Understanding the genetic basis of CH is crucial for improving patient diagnosis and management.

Purpose:

• To determine the frequency of pathogenic TSHR gene variants in children with CH.
• To investigate the inheritance and phenotypic patterns of CH in affected families.

Summary:

• This study examined 95 children with primary CH, identifying TSHR gene variants in 5.3% of cases.
• Thyroid imaging revealed various forms of dysgenesis, including ectopic thyroid (52%), aplasia (36%), and hypoplasia (10%).
• Two novel TSHR variants were identified, highlighting the role of genetic testing in diagnosing CH.

Impact:

• Genetic testing for TSHR variants can aid in the diagnosis and management of congenital hypothyroidism.
• The findings contribute to understanding the genetic etiology of CH and inform genetic counseling for affected families.