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Adult-onset pseudohypoparathyroidism type 1B diagnosed by methylation analysis: A case report and diagnostic
Hong Sang Choi1,2, Hee Kyung Kim1,2, Sang Heon Suh1,2
1Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Republic of Korea.
Rationale:
Pseudohypoparathyroidism type 1B (PHP1B) is a rare endocrine disorder caused by epigenetic defects at the GNAS locus, leading to isolated renal resistance to parathyroid hormone (PTH). Although typically identified in childhood, adult-onset cases are uncommon and easily overlooked. This case highlights the diagnostic challenge of late-onset PHP1B and the critical role of methylation-specific testing.
Patient Concerns:
A 33-year-old man was referred for evaluation of incidentally detected hypocalcemia (serum calcium 5.9 mg/dL) during a routine health examination. He complained of mild paresthesia of the hands and eyelid twitching but had no family history of endocrine disorders and exhibited no phenotypic features of Albright hereditary osteodystrophy.
Diagnoses:
Laboratory evaluation revealed persistent hypocalcemia (serum calcium 7.7 mg/dL) and markedly elevated PTH levels (284.2 pg/mL) despite correction of magnesium and vitamin D insufficiency. Standard sequencing of the GNAS and STX16 genes showed no pathogenic variants. However, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) identified gain of methylation in the NESP55 region and loss of methylation in the AS, XL, and A/B differentially methylated regions confirming a diagnosis of sporadic PHP1B.
Interventions:
The patient received oral calcium carbonate and cholecalciferol supplementation. Magnesium deficiency was corrected with oral magnesium oxide.
Outcomes:
The patient remained asymptomatic during follow-up with adequate calcium supplementation.
Lessons:
Adult-onset PHP1B should be considered in the differential diagnosis of unexplained hypocalcemia with elevated PTH, even in the absence of Albright hereditary osteodystrophy. Because conventional sequencing cannot detect imprinting defects, epigenetic testing such as MS-MLPA is essential for definitive diagnosis. Increased awareness of atypical, late-onset presentations can aid in timely diagnosis and appropriate management.
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