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Condition report · Endocrine

Pseudohypoparathyroidism

Inherited conditions in which the body does not respond properly to parathyroid hormone and some other hormones, mostly caused by changes in the GNAS gene, and in acrodysostosis by PRKAR1A or PDE4D. Features can include low calcium, short stature and short hand bones.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Pseudohypoparathyroidism

Autosomal dominant

Resistance to parathyroid hormone, and often to TSH and other hormones, causing low calcium and high phosphate, with or without Albright hereditary osteodystrophy.

What a diagnosis changes

Calcitriol, calcium and, where needed, levothyroxine or growth hormone treat the hormone resistance.

Genes analysed

Includes 5 related subtypes ↓
  • pseudohypoparathyroidism type 1A
  • pseudohypoparathyroidism type 1B
  • pseudohypoparathyroidism type 1C
  • pseudohypoparathyroidism type 2
  • pseudopseudohypoparathyroidism
MONDO:0019992Orphanet 97593MedGen 46178

Disorder of GNAS inactivation

Autosomal dominant

Conditions caused by loss of GNAS function, including pseudopseudohypoparathyroidism and progressive osseous heteroplasia; which form develops depends on which parent the variant came from.

Genes analysed

Includes 5 related subtypes ↓
  • progressive osseous heteroplasia
  • pseudohypoparathyroidism type 1A
  • pseudohypoparathyroidism type 1B
  • pseudohypoparathyroidism type 1C
  • pseudopseudohypoparathyroidism
MONDO:0800466

Acrodysostosis

Autosomal dominant

A skeletal condition with short hands and feet and facial differences, sometimes with hormone resistance, caused by PRKAR1A or PDE4D variants.

Genes analysed

Also known as

acrodysplasia; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome; peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome

Includes 2 related subtypes ↓
  • Acrodysostosis 1 with or without hormone resistance
  • acrodysostosis 2 with or without hormone resistance
MONDO:0019797Orphanet 950MedGen 113097

Limitations

  • Pseudohypoparathyroidism type 1B is mostly caused by GNAS methylation changes, which this test cannot detect; only some related deletions (for example in STX16) may be seen with copy-number analysis.
  • GNAS is imprinted: the effect of a variant depends on whether it was inherited from the mother or the father, which this test cannot determine on its own.

Other endocrine conditions

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