Parathyroid Hormone Resistance: An Uncommon Cause of Hypocalcaemia in an Adult Ghanaian Female.

Autor:	Akpalu J; Department of Medicine and Therapeutics, University of Ghana Medical School, Ghana., Ampong C; Department of Medicine and Therapeutics, Korle Bu Teaching Hospital, Ghana., Adiiboka JG; Department of Medicine and Therapeutics, Korle Bu Teaching Hospital, Ghana., Nikoi E; Department of Medicine and Therapeutics, Korle Bu Teaching Hospital, Ghana., Atiase Y; Department of Medicine and Therapeutics, University of Ghana Medical School, Ghana., Yorke E; Department of Medicine and Therapeutics, University of Ghana Medical School, Ghana.
Jazyk:	angličtina
Zdroj:	West African journal of medicine [West Afr J Med] 2023 Oct 31; Vol. 40 (10), pp. 1131-1134.
Abstrakt:	Background and Objective: Parathyroid hormone (PTH) resistance, the main biochemical feature of a rare group of disorders known as Pseudohypoparathyroidism (PHP) is an uncommon cause of hypocalcaemia. In addition to the biochemical abnormalities, some individuals with PHP may have features of Albright Hereditary Osteodystrophy (AHO). Being a rare disorder with a significant level of variation and overlap in its clinical presentation, diagnosis of PHP may be challenging in some clinical settings. This case report highlights the diagnosis of this rare disorder. Case Report: A 20-year-old Ghanaian female who had been involved in a road traffic accident (RTA) was referred to the endocrine clinic after a computer tomography (CT) scan of her head revealed an incidental finding of multiple basal ganglia calcifications. Investigations revealed hypocalcaemia, hyperphosphatemia, and elevated intact PTH in the presence of normal levels of 25-hydroxyvitamin D and magnesium, and a normal kidney function. She also had phenotypic features of AHO. Findings suggested a diagnosis of PHP, however, the type could not be identified due to the unavailability of further testing. Conclusion: This report of a Ghanaian female with PTH resistance and features of AHO diagnosed at the age of 20 years, is expected to add to the existing literature and assist in increasing the level of awareness and facilitate the diagnosis of this disorder in our setting. Competing Interests: The Authors declare that no competing interest exists (Copyright © 2023 by West African Journal of Medicine.)
Databáze:	MEDLINE
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