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Pseudohypoparathyroidism

Pseudohypoparathyroidism is a topic covered in the 5-Minute Clinical Consult.

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Basics

  • Pseudohypoparathyroidism (PHP) is similar to hypoparathyroidism in its presentation, but, rather than resulting from the body’s lack of parathyroid hormone (PTH) production, the signs are due to the lack of the body’s response or resistance to PTH; hence, the term “pseudo.”
  • PHP was first described in 1942 by Fuller Albright.
  • PHP is a group of heterogeneous disorders defined by targeted organ (kidney and bone) resistance to the action of PTH.
  • PHP is characterized by hypocalcemia, hyperphosphatemia, and elevated PTH levels.
  • Synonym(s): Albright hereditary osteodystrophy (AHO)

Epidemiology

Prevalence
  • PHP is very rare.
  • To date, no information is available regarding its worldwide prevalence.
  • A 1998 epidemiologic survey from Japan revealed a period prevalence of 3.4 cases per 1 million and a study published in 2014 from Italy showed a prevalence of PHP (Ia, Ib, PPHP) of 1 per 150,000.
  • No ethnic or racial difference has been identified.
  • It has a female predominance: Female to male ratio is 2:1.

Genetics
  • Heterozygous mutations in the GNAS1 gene, which encodes Gsa (G protein activator of adenylyl cyclase), contribute to PHP type Ia and PHP type Ib.
  • GNAS1 defects are not detected in PHP Ic and PHP type II.
  • An autosomal dominant pattern of inheritance seen in PHP type Ia and Ib
  • Genomic imprinting leads to different disease manifestation.

Commonly Associated Conditions

PHP may be associated with other hormonal resistance leading to:

  • Hypogonadism (gonadotropin resistance)
  • Hypothyroidism (TSH resistance)
  • Short stature (GHRH resistance)
  • Neuropsychiatric disorders may also occur.
  • Subtypes of PHP (1):
    • PHPIa: AHO features present (see “Physical Exam”), hormone resistance (PTH, TSH, gonadotropins, GHRH), GNAS1 defect: inactivating mutations
    • PHPIb: AHO features absent, hormone resistance (PTH, TSH), GNAS1 defect: imprinting dysregulation
    • PHPIc: AHO features present, hormone resistance (PTH, TSH, gonadotropins), not associated with GNAS1 defect
    • PHP II: AHO features absent, hormone resistance (PTH), not associated with GNAS1 defect

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Citation

Stephens, Mark B., et al., editors. "Pseudohypoparathyroidism." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2019. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816405/all/Pseudohypoparathyroidism.
Pseudohypoparathyroidism. In: Stephens MB, Golding J, Baldor RA, et al, eds. 5-Minute Clinical Consult. 27th ed. Wolters Kluwer; 2019. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816405/all/Pseudohypoparathyroidism. Accessed April 19, 2019.
Pseudohypoparathyroidism. (2019). In Stephens, M. B., Golding, J., Baldor, R. A., & Domino, F. J. (Eds.), 5-Minute Clinical Consult. Available from https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816405/all/Pseudohypoparathyroidism
Pseudohypoparathyroidism [Internet]. In: Stephens MB, Golding J, Baldor RA, Domino FJ, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2019. [cited 2019 April 19]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816405/all/Pseudohypoparathyroidism.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Pseudohypoparathyroidism ID - 816405 ED - Stephens,Mark B, ED - Golding,Jeremy, ED - Baldor,Robert A, ED - Domino,Frank J, BT - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816405/all/Pseudohypoparathyroidism PB - Wolters Kluwer ET - 27 DB - Medicine Central DP - Unbound Medicine ER -