Pseudohypoparathyroidism: A Diagnosis That Traverses Specialities

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.

Keywords

• pseudohypoparathyroidism (php)
• albright’s hereditary osteodystrophy(aho)
• parathyroid hormone resistance
• gnas gene