Pseudohypoparathyroidism

Pseudohypoparathyroidism

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 10835
DiseasesDB_mult = DiseasesDB2|10851
ICD10 = ICD10|E|20|1|e|20
ICD9 = ICD9|275.49
ICDO =
OMIM =
MedlinePlus = 000364
eMedicineSubj = med
eMedicineTopic = 1940
MeshID = D011547

Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high. Its pathogenesis has been linked to dysfunctional G Proteins.

Types

* Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder. [OMIM|103580]
* Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar. [OMIM|603233]
* Type 2 pseudohypoparathyroidism also lacks the physical appearance of type 1a. [OMIM|203330] While biochemically similar, type 1 and 2 disease may be distinguished by the differing urinary excretion of cyclic AMP in response to exogenous PTH.

Related conditions

The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

Presentation

This disorder is clinically manifest by blunting of fourth and fifth metacarpals. The common mnemonic "knuckle knuckle dimple dimple" refers to the blunting of the fourth and fifth metacarpal bones.

ymptoms

* hypocalcemia
* hyperphosphatemia
* elevated parathyroid hormone (hyperparathyroidism)

References

ee also

* Hypoparathyroidism


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  • pseudohypoparathyroidism — pseudohypoparathyroidism. См. псевдогипопаратиреоз. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • pseudohypoparathyroidism — pseudohypoparathyroidism. = Albright syndrome (см.). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • pseudohypoparathyroidism — A disorder resembling hypoparathyroidism, with high serum phosphate and low calcium levels but with normal or elevated serum parathyroid hormone levels; the defect is due to lack of end organ responsiveness to parathyroid …   Medical dictionary

  • pseudohypoparathyroidism — noun A condition caused by resistance to the parathyroid hormone …   Wiktionary

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  • Псевдогипопаратиреоз (Pseudohypoparathyroidism) — синдром, характеризующийся задержкой умственного развития, нарушением роста и наличием у человека дефектов костей. Этот синдром развивается в результате наличия у человека генетического дефекта, который приводит к снижению реакции организма на… …   Медицинские термины

  • Albright hereditary osteodystrophy — pseudohypoparathyroidism …   Medical dictionary

  • Seabright bantam syndrome — pseudohypoparathyroidism …   Medical dictionary

  • ПСЕВДОГИПОПАРАТИРЕОЗ — (pseudohypoparathyroidism) синдром, характеризующийся задержкой умственного развития, нарушением роста и наличием у человека дефектов костей. Этот синдром развивается в результате наличия у человека генетического дефекта, который приводит к… …   Толковый словарь по медицине

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