Pseudohypoparathyroidism: report of seven cases

Pseudohypoparathyroidism (PHP) is a rare inherited syndrome with several types. We reviewed the cases of 7 PHP patients seen between 1990 and 2003, and analyzed their clinical, biochemical data and long-term medical outcomes. Six boys and one girl were included. Two siblings showed Albright's hereditary osteodystrophy (AHO) and PHP Ia was impressed. The rest were suspected of PHP Ib. Their mean diagnosed age was 10.8 years and most had symptoms onset for several years before diagnosis. The most frequent initial presentations were seizure, followed by extremity muscle spasm, short stature, learning disability and psychomotor retardation. Mild thyrotropin elevation was noted in two patients of PHPIa. Early puberty onset, combined with bone age advancement was noted in the boy with PHP Ia, who had the shortest predicted adult height (PAH) (139.5 cm). The other 5 boys had normal PAH, mean 171.42 cm, and 4 male patients reached final height with a mean of 163.25 cm, close to their target heights. During treatment, 2 patients developed nephrocalcinosis. In conclusion, subtypes of PHP present heterogeneous phenotypes. Non-Ia subtypes might not be rare in Taiwan. Therefore, in hypocalcemic patients with mild high or normal parathyroid hormone (PTH), even in the absence of AHO, PHP should be ruled out. Regular renal sonography follow-up is recommended during therapy.