Congenital familial thyroid aplasia

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Congenital hypothyroidism can result from thyroid aplasia or dysplasia.
• Previously, familial cases without other malformations were rarely documented.
• The term 'sporadic cretinism' was often used for isolated thyroid aplasia.

Observation:

• A family with four siblings presented with three affected by hypothyroidism due to thyroid aplasia.
• A literature review identified 10 additional families with familial thyroid aplasia.
• These familial cases occurred without other congenital malformations.

Findings:

• Familial occurrence of thyroid aplasia (or dysplasia) is more common than previously recognized.
• The pattern of inheritance in these families suggests an autosomal recessive mode.
• Isolated thyroid aplasia is not always sporadic.

Implications:

• Thyroid aplasia should be reconsidered as a potentially inherited disorder.
• The term 'sporadic cretinism' may be inaccurate for many cases of isolated thyroid aplasia.
• Genetic counseling and further research into the genetic basis of thyroid aplasia are warranted.