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Delayed diagnosis of pseudohypoparathyroidism type 1a with rare hypothyroidism since childhood.

ABSTRACT: Pseudohypoparathyroidism (PHP) is a rare disorder that associates with resistance to parathyroid hormone (PTH). A 21-year old man visited outpatient clinic to treat previously diagnosed hypothyroidism and vitamin D deficiency. Despite daily 150 mcg of levothyroxine supplement, thyroid-stimulating hormone level was elevated, but thyroid autoantibodies were not detected. He showed features of Albright Hereditary Osteodystrophy and elevated serum PTH level with normal albumin-corrected calcium and phosphorus level. The Ellsworth-Howard test proved the blunted response of urinary phosphorus and cyclic adenosine monophosphate after the infusion of the exogenous PTH, suggesting PTH resistance. DNA analysis revealed a heterozygous mutation in the GNAS gene (c.478C > T). Herein, we report a case of PHP type 1a confirmed by clinical, biochemical and molecular analyses. Establishing correct diagnosis of PHP is necessary for efficient therapeutic management.

SUBMITTER: Jun JE

PROVIDER: S-EPMC9389559 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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Delayed diagnosis of pseudohypoparathyroidism type 1a with rare hypothyroidism since childhood.

Jun Ji Eun JE Park So Young SY Jeong In-Kyung IK Hwang You-Cheol YC Ahn Kyu Jeong KJ Chung Ho Yeon HY

Oxford medical case reports 20220818 8

Pseudohypoparathyroidism (PHP) is a rare disorder that associates with resistance to parathyroid hormone (PTH). A 21-year old man visited outpatient clinic to treat previously diagnosed hypothyroidism and vitamin D deficiency. Despite daily 150 mcg of levothyroxine supplement, thyroid-stimulating hormone level was elevated, but thyroid autoantibodies were not detected. He showed features of Albright Hereditary Osteodystrophy and elevated serum PTH level with normal albumin-corrected calcium and ...[more]

PMID: 35991493

Dataset Information

Delayed diagnosis of pseudohypoparathyroidism type 1a with rare hypothyroidism since childhood.

Publications

Delayed diagnosis of pseudohypoparathyroidism type 1a with rare hypothyroidism since childhood.

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