Pseudopseudohypoparathyroidism
| Pseudopseudohypoparathyroidism | |
| ICD-9 | 275.49 |
|---|---|
| OMIM | 103580 |
| DiseasesDB | 29783 |
| MeSH | D011556 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-632-7753
Overview
Pseudopseudohypoparathyroidism (30 letters) (pseudoPHP) is an inherited disorder that closely simulates the symptoms, but not the consequences of pseudohypoparathyroidism, thus it has mild or no manifestations of hypoparathyroidism or tetanic convulsions. The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
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]
Pathophysiology
Genetics
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 inherited paternal chromosome will be changed to the maternal pattern in the mother's ovum during meiosis.
Diagnosis
Symptoms
Short stature may be present.[3]
Hormone resistance is not present.[4]
Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism.[5]
References
- ↑ Template:GPnotebook
- ↑ Solomon SS, Kerlan RM, King LE, Jones GM, Hashimoto K (1975). "Pseudopseudohypoparathyroidism with fibrous dysplasia". Arch Dermatol. 111 (1): 90–3. doi:10.1001/archderm.111.1.90. PMID 1119829. Unknown parameter
|month=ignored (help) - ↑ Riggs JE (1997). "Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions". Mil Med. 162 (7): 510–2. PMID 9232985. Unknown parameter
|month=ignored (help) - ↑ Mouallem M, Shaharabany M, Weintrob N; et al. (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:10.1111/j.1365-2265.2007.03025.x. PMID 17803690. Unknown parameter
|month=ignored (help) - ↑ Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL (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:10.1210/jc.2006-1497. PMID 17164301. Unknown parameter
|month=ignored (help)
Related Chapters
External links
- Solomon S, Kerlan R, King L, Jones G, Hashimoto K (1975). "Pseudopseudohypoparathyroidism with fibrous dysplasia". Arch Dermatol. 111 (1): 90–3. PMID 1119829.
- Riggs J (1997). "Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions". Mil Med. 162 (7): 510–2. PMID 9232985.