| 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 |
Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder,[1] 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.[2]
It can be considered a variant of Albright hereditary osteodystrophy (pseudohypoparathyroidism type 1A),[3] as they present with the same constellation of signs and symptoms, including short stature, brachydactyly, subcutaneous calcification, and obesity.
- ^ "Pseudopseudohypoparathyroidism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-01-31.
- ^ Tafaj, O.; Jüppner, H. (April 2017). "Pseudohypoparathyroidism: one gene, several syndromes". Journal of Endocrinological Investigation. 40 (4): 347–356. doi:10.1007/s40618-016-0588-4. ISSN 1720-8386. PMID 27995443. S2CID 20811779.
- ^ Solomon SS, Kerlan RM, King LE, Jones GM, Hashimoto K (January 1975). "Pseudopseudohypoparathyroidism with fibrous dysplasia". Arch Dermatol. 111 (1): 90–3. doi:10.1001/archderm.111.1.90. PMID 1119829.