Clinical Characteristics Study of Pseudohypoparathyroidism.

Choi,  Im Jeong; Lim,  Jung Sub; Shin,  Choong Ho; Yang,  Sei Won

Ann Pediatr Endocrinol Metab > Volume 7(1); 2002 > Article

Original Article

Journal of Korean Society of Pediatric Endocrinology 2002;7(1): 105-111.

Clinical Characteristics Study of Pseudohypoparathyroidism.

Im Jeong Choi, Jung Sub Lim, Choong Ho Shin, Sei Won Yang

Abstract

PURPOSE
Pseudohypoparathyroidism(PHP) is caused by a defect of G protein and receptor despite of normal parathyroid hormone(PTH) secretion. It is a rare disorder characterized by hypocalcemia, hyperphophatemia, elevated PTH levels and albright hereditory osteodystrophy(AHO). We retrospectively reviewed the clinical characteristics of PHP. METHODS: We reviewed clinical features, laboratory findings, and outcome to treatment of 8 PHP patients, diagnosed at Seoul National University Hospital from 1988 to rool.
RESULTS
Male to Female ratio was 1.7:1 and mean age at diagnosis was 11.8 years old. The initial average height SDS was 0.13+/-.08 and the average weight SDS was 0.43+/-.31. The most common symptom was seizure. Only one patient had typical AHO, three patients had mental retardation. Brain MRI or CT showed basal ganglia calcification in 3 patients. All patients treated with vitamin D and calcium supplementation could maintained normal serum levels of calcium and phophorus.
CONCLUSION
PHP should be suspected in patient with seizure of unknown origin, aged above 5 year-old. AHO and mental retardation could be adjuvant signs to the diagnosis of PHP. But definite diagnosis could be made by laboratory work up.

Keywords: Pseudohypoparathyroidism(PHP);Parathyroid hormone(PTH);Albright hereditory osteodystrophy(AHO)