Work

A Case of Pseudohypoparathyroidism With Unusual Presentation and Novel Genetic Mutation

Year: 2026

Type: article

Abstract: Pseudohypoparathyroidism is a really rare inherited disorder characterized by either unresponsiveness or targeted organ resistance to the parathyroid hormone, classified either biochemically or by phenotype characteristics. Here, we report an atypical presentation of Albright hereditary osteodystrophy. An underweight 18-year-old male presented with painful subcutaneous nodules that progressively appeared over a period of 10 years and were confirmed by fine needle aspiration, and the pathology report indicated osteoma cutis.

Source: Cureus

DOI: 10.7759/cureus.111078

Authors: Reem Al-Amri, Ziad A Taher, Rawan A Alnajashi, Atheer A Alqurashi, Hend Al-Zanbaqi

Institutions: National Guard Health Affairs, King Abdullah International Medical Research Center

Language: English

Topic: Parathyroid Disorders and Treatments

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7165130043