Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy

Giovanna Mantovani, Anna Spada

Research output: Contribution to journalArticlepeer-review

Abstract

Heterozygous inactivating mutations in the Gsα gene cause Albright's hereditary osteodystrophy (AHO). Consistent with the observation that only maternally inherited mutations lead to resistance to hormone action (pseudohypoparathyroidism type Ia [PHP-Ia]), recent studies have provided evidence for a predominant maternal origin of Gsα transcripts in endocrine organs, such as thyroid, gonad and pituitary. Accordingly, patients with PHP-Ia display variable degrees of resistance to parathyroid hormone (PTH), thyroid stimulating hormone (TSH), gonadotropins and growth hormone (GH) releasing hormone (GHRH). Although the incidence and the clinical and biochemical characteristics of PTH and TSH resistance have been widely investigated and described, the cause and significance of the reproductive dysfunction in AHO is still poorly understood. The clinical finding of alterations of GH secretion in these patients was described for the first time only 2 years ago. The present report briefly reviews the literature focusing on the actual knowledge about these last two subjects.

Original languageEnglish
Pages (from-to)663-670
Number of pages8
JournalJournal of Pediatric Endocrinology and Metabolism
Volume19
Issue numberSUPPL. 2
Publication statusPublished - 2006

Keywords

  • Multihormone resistance
  • Mutations
  • Pseudohypoparathyroidism type Ia

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

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