Late-Onset Pseudohypoparathyroidism: A Case Report

Pseudohypoparathyroidism (PHP) is a rare endocrine disorder due to end-organ resistance to parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia despite elevated PTH levels. It usually presents in children with distinctive features known as Albright Hereditary Osteodystrophy (AHO). We report a 33-year-old man who presented with wrist pain, muscle spasms, and tingling in his hands. Laboratory investigations revealed hypocalcemia, hyperphosphatemia, and elevated serum PTH, with normal serum magnesium, renal function, and vitamin D levels, suggestive of PTH resistance. The patient was managed with calcium and vitamin D supplementation. This case highlights the diagnostic challenges of adult-onset PHP in the absence of classical features of AHO and emphasizes the importance of recognizing biochemical patterns of PTH resistance. Timely diagnosis and management can lead to symptom resolution and prevent long-term complications, such as skeletal abnormalities, neurological symptoms, cataracts, and dental abnormalities.

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Journal
Cureus
Published
2025-09-29
DOI
https://doi.org/10.7759/cureus.93475
Citations
1
Primary Topic
Genetic Syndromes and Imprinting
Type
article
Field-Weighted Citation Impact
1.82
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Late-Onset Pseudohypoparathyroidism: A Case Report

Adeniyi Dauda Sonibare, Reda Ali Ebrahim, Noorbina Peedika Parambil, Harris Jenner Poolakundan et al.
1 citations
Cureus
Genetic Syndromes and Imprinting
1.82
article

Late-Onset Pseudohypoparathyroidism: A Case Report

Adeniyi Dauda Sonibare, Reda Ali Ebrahim, Noorbina Peedika Parambil, Harris Jenner Poolakundan, Feroz Jenner Poolakundan
article en
1 citations

Abstract

Pseudohypoparathyroidism (PHP) is a rare endocrine disorder due to end-organ resistance to parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia despite elevated PTH levels. It usually presents in children with distinctive features known as Albright Hereditary Osteodystrophy (AHO). We report a 33-year-old man who presented with wrist pain, muscle spasms, and tingling in his hands. Laboratory investigations revealed hypocalcemia, hyperphosphatemia, and elevated serum PTH, with normal serum magnesium, renal function, and vitamin D levels, suggestive of PTH resistance. The patient was managed with calcium and vitamin D supplementation. This case highlights the diagnostic challenges of adult-onset PHP in the absence of classical features of AHO and emphasizes the importance of recognizing biochemical patterns of PTH resistance. Timely diagnosis and management can lead to symptom resolution and prevent long-term complications, such as skeletal abnormalities, neurological symptoms, cataracts, and dental abnormalities.

CureusVol. 17(9)
KMCT Group of Educational Institutions (IN), Hamad Medical Corporation (QA)
Openalex Percentile: Top 12%
Genetic Syndromes and Imprinting
1.82
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