- Pseudopseudohypoparathyroidism
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 29783
ICD10 =
ICD9 = ICD9|275.49
ICDO =
OMIM = 103580
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D011556Pseudopseudohypoparathyroidism (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 lowparathyroid hormone levels, pseudopseudohypoparathyroidism presents only with the skeletal defects and none of the defects incalcium andphosphate homeostasis . [GPnotebook|-1060110313] Patients generally have normal calcium and phosphate levels and normal parathyroid hormone levels. As such, it is sometimes considered a variant ofAlbright hereditary osteodystrophy .cite journal |author=Solomon SS, Kerlan RM, King LE, Jones GM, Hashimoto K |title=Pseudopseudohypoparathyroidism with fibrous dysplasia |journal=Arch Dermatol |volume=111 |issue=1 |pages=90–3 |year=1975 |month=January |pmid=1119829 |doi= |url=]Presentation
It has mild or no manifestations of
hypoparathyroidism ortetanic convulsions.Fact|date=May 2008Short stature may be present.cite journal |author=Riggs JE |title=Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions |journal=Mil Med |volume=162 |issue=7 |pages=510–2 |year=1997 |month=July |pmid=9232985 |doi= |url=]Hormone resistance is not present.cite journal |author=Mouallem M, Shaharabany M, Weintrob N, "et al" |title=Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha |journal=
Clin. Endocrinol. (Oxf) |volume=68 |issue=2 |pages=233–9 |year=2008 |month=February |pmid=17803690 |doi=10.1111/j.1365-2265.2007.03025.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0300-0664&date=2008&volume=68&issue=2&spage=233]Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism.cite journal |author=Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL |title=Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity |journal=J. Clin. Endocrinol. Metab. |volume=92 |issue=3 |pages=1073–9 |year=2007 |month=March |pmid=17164301 |doi=10.1210/jc.2006-1497 |url=http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=17164301]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.Linguistic significance
At 30 letters, the English name of the disorder is one of the candidates for being the
longest word in English .cite web |url=http://www.askoxford.com/asktheexperts/faq/aboutwords/longestword?view=uk |title=AskOxford: What is the longest English word? |format= |work= |accessdate=]ee also
*
parathyroid hormone
*GNAS1 References
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