Pseudopseudohypoparathyroidism
rare genetic disorder
Pseudopseudohypoparathyroidism (PPHP) /ˌsuː.doʊˌsuː.doʊˌhaɪ.poʊˌpær.əˌˈθaɪ.rɔɪ.dɪ.zəm/ is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy, although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction. The term is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs, including calcium and PTH.
It can be considered a variant of Albright hereditary osteodystrophy (pseudohypoparathyroidism type 1A), as they present with the same constellation of signs and symptoms, including short stature, brachydactyly, subcutaneous calcification, and obesity.
Presentation
Pseudopseudohypoparathyroidism can be best understood by comparing it to other conditions:
Hormone resistance is not present in pseudopseudohypoparathyroidism. Short stature may be present. Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism. Osteoma cutis may be present.
Genetics
A male with pseudohypoparathyroidism has a 50% chance of passing on the defective GNAS gene to his children, although in an imprinted, inactive form. Any of his children receiving this gene will have pseudopseudohypoparathyroidism. Any of his daughters that have pseudopseudohypoparathyroidism may in turn pass along pseudohypoparathyroidism 1A to her children, as the imprinting pattern on the inherited paternal gene will be changed to the maternal pattern in the mother's ovum during meiosis.
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