J Korean Soc Pediatr Endocrinol.  2002 Jun;7(1):105-111.

Clinical Characteristics Study of Pseudohypoparathyroidism

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.

Keyword

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

MeSH Terms

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
Calcium
GTP-Binding Proteins
Vitamin D
Full Text Links
  • JKSPE
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
    DB Error: unknown error