Dyshormonogenic hypothyroidism with normal neurological development, unexplained short stature and facial anomalies in three siblings.

We report three members of a family with clinical and laboratory features, consistent with dyshormonogenic hypothyroidism, with an autosomal recessive pattern of inheritance. Two had primary hypothyroidism with normal Tc(99m) thyroid scans, presenting with growth delay at ages of 7.5 and 2, and one had hypoplasia of the right lobe of the thyroid with left lobe hemiagenesis and low thyroid uptake in iodide thyroid scan, diagnosed at 14 months. They had slender facies with nasal retrognathic mandible and a prominent bridge. They had reasonably normal intellectual development despite delayed onset of treatment. Despite advancement of bone age with treatment the patients remained significantly short. Possible differential diagnoses are dyshormonogenic hypothyroidism, especially hyporesponsiveness to thyrotropin and short stature that may be due to an abnormal gene in this family.