Pseudohypoparathyroidism: A Diagnosis That Traverses Specialities

Cynthia Amrutha Sukumar, Sanyam Tomar, Shipra Rai, Kavitha Saravu

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1-3
Number of pages3
JournalOnline Journal of Health and Allied Sciences
Volume19
Issue number3
Publication statusPublished - 07-2020

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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