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Pseudohypoparathyroidism: A Diagnosis That Traverses Specialities

Authors :
Cynthia Amrutha Sukumar
Sanyam Tomar
Shipra Rai
Kavitha Saravu
Source :
Online Journal of Health & Allied Sciences, Vol 19, Iss 3 (2020)
Publication Year :
2020
Publisher :
Light House Polyclinic Mangalore, 2020.

Abstract

Pseudohypoparathyroidism (PHP) is a rare , genetic disorder with variable presentation. This case report describes a young male who presented with a pathological fracture of the right humerus with spontaneous dislocation of the right shoulder joint. On evaluation, hypocalcemia, normal phosphate levels with raised parathormone levels were seen. PHP was suspected as a phenotypic manifestation of short stature, genu valgum and brachydactyly were noted. Genetic testing revealed GNAS was pending. Patient was initiated on treatment with oral calcium supplements and calcitriol. This case report stresses the importance of early recognition of the typical biochemical abnormalities in PHP as a wide spectrum of phenotypic variability is seen in these patients.

Details

Language :
English
ISSN :
09725997
Volume :
19
Issue :
3
Database :
Directory of Open Access Journals
Journal :
Online Journal of Health & Allied Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.64a125cc0ea94882bb94a3cae68880bd
Document Type :
article