Pseudohypoparathyroidism, an often delayed diagnosis: A case series

Valentina Donghi, Stefano Mora, Ilaria Zamproni, Giuseppe Chiumello, Giovanna Weber

Research output: Contribution to journalArticle

Abstract

Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. Pseudohypoparathyroidism is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities (type Ia, Ib, Ic, type II). We report cases of four children (aged 8 to 13 years) in the winter season 2007-'08. The present work highlights the variable mode of presentation of pseudohypoparathyroidism and the difficulty of an early diagnosis. We stress the importance of a complete biochemical investigation of the calcium-phosphate metabolism to recognize typical biochemical alterations associated with this condition (hypocalcaemia, hyperphosphataemia with increased phosphate tubular reabsorption and elevated PTH levels) in spite of a phenotypic aspect that often lacks the presence of all the peculiar clinical features of Albright hereditary osteodistrophy.

Original languageEnglish
Article number6734
JournalCases Journal
Volume2
Issue number5
DOIs
Publication statusPublished - May 2009

ASJC Scopus subject areas

  • Medicine(all)

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