Genetic basis for resistance to parathyroid hormone

Michael A. Levine, Emily Germain-Lee, Suzanne M Jan De Beur

Research output: Contribution to journalArticle

Abstract

Pseudohypoparathyroidism (PHP) is associated with biochemical hypoparathyroidism (i.e. hypocalcemia and hyperphosphatemia) due to parathyroid hormone (PTH) resistance rather than to PTH deficiency. Patients with PHP type 1a have a generalized form of hormone resistance plus a constellation of developmental defects termed Albright hereditary osteodystrophy (AHO). Within PHP type 1a families some individuals will show AHO but have normal hormone responsiveness, a variant phenotype termed pseudo-PHP. By contrast, patients with PHP type 1b manifest only PTH resistance and lack features of AHO. These various forms of PHP are due to defects in the GNAS1 gene that lead to decreased expression or activity of the α-subunit of the stimulatory G protein (Gsα). Tissue-specific genomic imprinting of GNAS1 accounts for the variable phenotypes of patients with GNAS1 defects.

Original languageEnglish (US)
Pages (from-to)87-95
Number of pages9
JournalHormone Research
Volume60
Issue numberSUPPL. 3
DOIs
StatePublished - 2003

Fingerprint

Pseudohypoparathyroidism
Parathyroid Hormone
Pseudopseudohypoparathyroidism
Gs GTP-Binding Protein alpha Subunits
Hormones
Genomic Imprinting
Hyperphosphatemia
Phenotype
Hypoparathyroidism
Hypocalcemia
Genes
Albright's hereditary osteodystrophy

Keywords

  • G protein
  • Imprinting
  • Pseudohypoparathyroidism

ASJC Scopus subject areas

  • Endocrinology

Cite this

Genetic basis for resistance to parathyroid hormone. / Levine, Michael A.; Germain-Lee, Emily; Jan De Beur, Suzanne M.

In: Hormone Research, Vol. 60, No. SUPPL. 3, 2003, p. 87-95.

Research output: Contribution to journalArticle

Levine, Michael A. ; Germain-Lee, Emily ; Jan De Beur, Suzanne M. / Genetic basis for resistance to parathyroid hormone. In: Hormone Research. 2003 ; Vol. 60, No. SUPPL. 3. pp. 87-95.
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