Clinical Characteristics Study of Pseudohypoparathyroidism / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
; : 105-111, 2002.
Article
in Ko
| WPRIM
| ID: wpr-33528
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Pseudohypoparathyroidism
/
Seizures
/
Basal Ganglia
/
Vitamin D
/
Brain
/
Magnetic Resonance Imaging
/
Calcium
/
Retrospective Studies
/
GTP-Binding Proteins
/
Diagnosis
Type of study:
Diagnostic_studies
/
Observational_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Ko
Journal:
Journal of Korean Society of Pediatric Endocrinology
Year:
2002
Type:
Article