Hyperthyrotropinemia in a neonate with normal thyroid hormone levels: the earliest diagnostic clue for pseudohypoparathyroidism.

A neonatal case of hyperthyrotropinemia is described in association with pseudohypoparathyroidism (PHP). This girl was found to have high serum thyrotropin (TSH) on screening, though serum thyroid hormones were within the normal ranges throughout the observation. The patient's TSH remained above the normal limit until 5 years of age, when she suffered from hypocalcemic tetany and was diagnosed as type-1 PHP on the basis of responsiveness to parathyroid hormone. She also had stigmata of Albright's hereditary osteodystrophy. The results demonstrate that elevated TSH, although thyroid hormone concentrations are normal and medication is not indicated, may be one of the earliest diagnostic clues for PHP.