[Athyreotic congenital hypothyroidism in two sisters]

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Congenital hypothyroidism (CH) is a common endocrine disorder in newborns.
• Athyreotic CH, characterized by the absence of a thyroid gland, is a severe form of CH.
• Early diagnosis and treatment are crucial for normal development.

Observation:

• Two sisters presented with symptoms of CH, including jaundice, abdominal distention, and constipation.
• Both patients exhibited low serum thyroxine (T4) and markedly elevated serum thyroid-stimulating hormone (TSH) levels.
• Thyroid scintigraphy revealed no iodine uptake, confirming an athyreotic state, with normal iodine transport.

Findings:

• The diagnosis of athyreotic congenital hypothyroidism was confirmed in both siblings.
• Despite the absence of a family history or parental consanguinity, a genetic factor is suspected.
• The patients have shown normal physical and psychological development with consistent thyroxine replacement therapy.

Implications:

• This case report highlights the importance of recognizing CH symptoms in the absence of neonatal screening.
• The sibling occurrence suggests a potential genetic etiology for athyreotic CH.
• Timely intervention with thyroxine therapy is vital for preventing developmental deficits in affected children.