Summary
Congenital hypothyroidism occurs in 1 newborn in 3 or 4000, but a small part of affected infants have an absence of thyroid (athyreosis). A rare syndrome including athyroidal hypothyroidism and cleft palate has been reported in the literature in 5 patients of 3 families, and in two of these families there were 2 affected brothers. The first 3 reported patients (two brothers, and a female child in another family) also had spiky hair, choanal atresia, and bifid epiglottis. Polyhydramnios was present in the third trimester in the three pregnancies, probably as a result of choanal atresia. These additional signs were not present in the two brothers reported with the association of only thyroid agenesis and cleft palate. It has been demonstrated that the complete pattern represented by thyroid agenesis, cleft palate, bifid epiglottis, and choanal atresia was caused by a homozygous missense mutation in the gene encoding thyroid transcription factor-2 (TTF-2). Moreover, a mutation in the FOXE1 gene was detected in the 2 male sibs more recently reported. They were born to consanguineous parents, with congenital hypothyroidism, athyreosis, and cleft palate. If hypothyroidism is detected at birth, and if children are receiving thyroxine replacement regularly, they can have normal physical growth, pubertal development, and anterior pituitary function. *Author : Dr E. Robert-Gnansia (January 2004).*
