Pseudopseudohypoparathyroidism
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| Pseudopseudohypoparathyroidism Classification and external resources |
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| ICD-9 | 275.49 |
|---|---|
| OMIM | 103580 |
| DiseasesDB | 29783 |
| MeSH | D011556 |
Pseudopseudohypoparathyroidism (pseudoPHP) is an inherited disorder that is caused by a mutation in the Gαs gene imprinted on the paternal chromosome. As such, a haploinsufficiency results similar to pseudohypoparathyroidism 1A, which is caused by a similar defect on the corresponding maternal chromosome. However, unlike pseudohypoparathyroidism 1A, which presents with all the symptoms of hypoparathyroidism except the low parathyroid hormone levels, pseudopseudohypoparathyroidism presents only with the skeletal defects and none of the defects in calcium and phosphate homeostasis. [1] Patients generally have normal calcium and phosphate levels and normal parathyroid hormone levels. As such, it is sometimes considered a variant of Albright hereditary osteodystrophy.[2]
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[edit] Presentation
It has mild or no manifestations of hypoparathyroidism or tetanic convulsions.[citation needed]
Short stature may be present.[3]
Hormone resistance is not present.[4]
Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism.[5]
A mother who has inherited pseudopseudohypoparathyroidism from her father may in turn pass along pseudohypoparathyroidism 1A to her children as the imprinting pattern on the interited paternal chomosome will be changed to the maternal pattern in the mother's ovum during meiosis.
[edit] Linguistic significance
At 30 letters, the English name of the disorder is one of the candidates for being the longest word in English.[6]
[edit] See also
[edit] References
- ^ -1060110313 at GPnotebook
- ^ Solomon SS, Kerlan RM, King LE, Jones GM, Hashimoto K (January 1975). "Pseudopseudohypoparathyroidism with fibrous dysplasia". Arch Dermatol 111 (1): 90–3. PMID 1119829.
- ^ Riggs JE (July 1997). "Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions". Mil Med 162 (7): 510–2. PMID 9232985.
- ^ Mouallem M, Shaharabany M, Weintrob N, et al (February 2008). "Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha". Clin. Endocrinol. (Oxf) 68 (2): 233–9. doi:. PMID 17803690.
- ^ Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL (March 2007). "Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity". J. Clin. Endocrinol. Metab. 92 (3): 1073–9. doi:. PMID 17164301.
- ^ AskOxford: What is the longest English word?.
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