Pseudohypoparathyroidism Type 1a with Hypocalcemia in a 25-Years-Old Woman: A Case Report of Delayed Presentation

Delayed PHP Type 1a in Young Adult Female

Authors

  • Md Mahiuddin Ahmed Department of Medicine, South Apollo Medical College, Barishal, Bangladesh
  • Nusrat Jahan Mahin Department of Plastic Surgery, Ekagra Health, ARC Health Limited, Dhaka, Bangladesh
  • Chowdhury Ali Adnan Department of Internal Medicine, Shaheed Suhrawardy Medical College Hospital, Dhaka, Bangladesh
  • Chowdhury Rashedul Mughni Department of Plastic Surgery, Ekagra Health, ARC Health Limited, Dhaka, Bangladesh
  • Armin Anwar Department of Internal Medicine, Dhaka Medical College Hospital, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bmrcb.v51i03.84700

Keywords:

Pseudohypoparathyroidism, Albright hereditary osteodystrophy, Brachydactyly, Hyperphosphatemia, Elevated PTH, Hypocalcemia

Abstract

Pseudohypoparathyroidism (PHP) is a rare endocrine disorder caused by end-organ resistance to parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia despite elevated PTH levels. PHP type 1a is associated with Albright hereditary osteodystrophy (AHO) features such as brachydactyly, short stature, and a round face. Usually these group of patients present in early childhood. In his case report, we found a 25-year old female with fatigue and muscle cramps. She had short stature (101 cm), brachydactyly, a round face, and a positive knuckle dimple sign. Investigations revealed hypocalcemia (5.6 mg/dL), hyperphosphatemia (2 mmol/ L), normal magnesium and albumin levels, and elevated PTH (70.1 pg/mL). Radiographs revealed shortened fourth and fifth metacarpals. Genetic and cAMP testing were unavailable. Treatment with oral calcium carbonate (1.5 g/day) and calcitriol (0.5 mcg/day) normalized calcium and resolved symptoms within one month. In low resource settings, recognition of the AHO phenotype with basic biochemical evidence can enable timely PHP diagnosis. Early calcium and vitamin D therapy is essential to prevent complications.

Bangladesh Medical Res Counc Bull 2025;51(3): 158-162

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Published

2025-12-20

Issue

Vol. 51 No. 03 (2025)

Section

Research Papers

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Copyright (c) 2025 Md Mahiuddin Ahmed, Nusrat Jahan Mahin, Chowdhury Ali Adnan, Chowdhury Rashedul Mughni, Armin Anwar

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