Clinical Characteristics Study of Pseudohypoparathyroidism.
- Author:
Im Jeong CHOI
;
Jung Sub LIM
;
Choong Ho SHIN
;
Sei Won YANG
- Publication Type:Original Article
- Keywords:
Pseudohypoparathyroidism(PHP);
Parathyroid hormone(PTH);
Albright hereditory osteodystrophy(AHO)
- MeSH:
Basal Ganglia;
Brain;
Calcium;
Child, Preschool;
Diagnosis;
Female;
GTP-Binding Proteins;
Humans;
Hypocalcemia;
Intellectual Disability;
Magnetic Resonance Imaging;
Male;
Pseudohypoparathyroidism*;
Retrospective Studies;
Seizures;
Seoul;
Vitamin D
- From:Journal of Korean Society of Pediatric Endocrinology
2002;7(1):105-111
- CountryRepublic of Korea
- Language:Korean
-
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.
