Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism (PPHP) 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 as frequently seen in that affliction. The term Pseudopseudohypoparathyroidism 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.
| Pseudopseudohypoparathyroidism | |
|---|---|
| Specialty | Rheumatology, medical genetics, endocrinology |
| Usual onset | Before birth |
| Duration | Lifetime |
| Differential diagnosis | Pseudohypoparathyroidism, hypoparathyroidism, Albright's hereditary osteodystrophy |
| Treatment | Treatments to reduce symptoms, genetic counseling |
It can be considered a variant of Albright hereditary osteodystrophy, or Pseudohypoparathyroidism type 1A, as they present with the same constellation of signs and symptoms, including short stature, brachydactyly, subcutaneous calcification, and obesity.