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Pseudopseudohypoparathyroidism
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Pseudopseudohypoparathyroidism

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Contributors: Joon B. Kim BS, Catherine Moore MD, Michael W. Winter MD
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Synopsis

Pseudopseudohypoparathyroidism (PPHP) is a rare hereditary disorder resulting from paternal transmission of a loss of function mutation in the GNAS1 gene inherited in an autosomal dominant pattern. Affected individuals will have the phenotypic features of Albright hereditary osteodystrophy without renal tubular resistance to parathyroid hormone (PTH). They will be normocalcemic.

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

Look For

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Diagnostic Pearls

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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).

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 05/08/2019
Last Updated: 05/08/2019
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Pseudopseudohypoparathyroidism
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Pseudopseudohypoparathyroidism : Short stature, Cushingoid facies
Copyright © 2019 VisualDx®. All rights reserved.