Pseudopseudohypoparathyroidism
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Synopsis
Clinical presentation is variable; some patients may be affected minimally or moderately, while others may have severe manifestations. Age of diagnosis may be from birth to adulthood, due to features becoming apparent over time. Common clinical features include brachydactyly, lack of pubertal growth spurt, lack of widening of lumbar spine, ectopic ossifications of soft tissues, round face, and short stature. Impaired cognition is rare.
PPHP is not life threatening; however, the patient's quality of life may be affected when severe ectopic ossification is present.
For more information, see OMIM.
Codes
ICD10CM:E20.1 – Pseudohypoparathyroidism
SNOMEDCT:
237659007 – Pseudopseudohypoparathyroidism
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Differential Diagnosis & Pitfalls
- Pseudohypoparathyroidism type 1A – This disorder does have evidence of end-organ resistance. Maternally imprinted G-protein alpha subunit (requires maternal transmission of GNAS1 mutation).
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Last Reviewed: 05/08/2019
Last Updated: 05/08/2019
Last Updated: 05/08/2019
Pseudopseudohypoparathyroidism
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