pseudohypoparathyroidism


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Related to pseudohypoparathyroidism: pseudopseudohypoparathyroidism

pseudohypoparathyroidism

 [soo″do-hi″po-par″ah-thi´roi-dizm]
a hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to, rather than deficiency of, parathyroid hormone; it is marked by hypocalcemia and hyperphosphatemia and often by short stature, obesity, short metacarpals, and ectopic calcification. Mental retardation, cataracts, tetany, and convulsions may also occur.

pseu·do·hy·po·par·a·thy·roid·ism

(sū'dō-hī'pō-par'ă-thī'royd-izm), [MIM*103580]
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 hormone. There are two types: type I shows lack of renal tubular response to exogenous parathyroid hormone with increase in urinary cAMP, type Is has type I skeletal defects (syn Albright hereditary osteodystrophy), and type II is associated with a defect at a locus after cAMP production. X-linked dominant inheritance caused by mutation in the gene encoding guanine nucleotide-binding protein α-stimulating activity polypeptide 1 (GNAS1), which regulates adenyl cyclase on chromosome 20q. Compare: thyrotropin resistance.

pseudohypoparathyroidism

Endocrinology A hypoparathyroid-like state–hypocalcemia, hyperphosphatemia due to end-organ resistance to PTH by bone and kidney, with a loss of renal tubule response to PTH, accompanied by ↑ PTH secretion and parathyroid gland–PG hyperplasia; despite excess PTH secretion in response to hypocalcemia by a normal or hyperplastic PG, the condition is associated with a 2º hypocalcemia-induced ↑ in parathyroid function–administration of pharmacologic doses of PTH normally results in ↑ urinary phosphate excretion and ↑ cAMP, but not in pseudohypoparathyroidism; the pattern of heredity is unclear, ♂:♀ ratio is 2:1; changes include a round face, dental dysplasia, dry coarse hair, mental retardation

pseu·do·hy·po·par·a·thy·roid·ism

(sū'dō-hī'pō-par'ă-thī'royd-izm)
A disorder resembling hypoparathyroidism, with high serum phosphate and low calcium levels, but with normal or elevated serum parathyroid hormone levels; due to lack of end-organ responsiveness to parathyroid hormone.
References in periodicals archive ?
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.
Thakker, "Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene," Clinical Endocrinology, vol.
Greenacre, "Suspected pseudohypoparathyroidism in a domestic ferret," Journal of the American Veterinary Medical Association, vol.
We describe unique case of subtype of Pseudohypoparathyroidism (PHP) type II complicated by massive intracranial calcification of Striopallidentate (SPD) system resulting in seizure activity.
However, at the age of 18 months, Dylan was diagnosed with Pseudohypoparathyroidism, a genetic disorder where the body is unable to respond to the parathyroid hormone, causing impaired growth, speech and mobility problems and learning difficulties.
Pseudohypoparathyroidism (PHP) is a term used to define a group of disorders characterized by resistance to the peripheral action of the parathyroid hormone (PTH).
Human placental production of 1-alpha, 25-dihydroxyvitamin D3: biochemical characterization and production in normal subjects and patients with pseudohypoparathyroidism. J Clin Endocrinol Metab 1986; 62:192-6.
Endocrine-related causes of short stature include hypothyroidism, cortisol excess, pseudohypoparathyroidism, poorly controlled diabetes mellitus, and growth hormone deficiency.
Pseudohypoparathyroidism There are two types of pseudohypoparathyroidism; they show similar enamel defects.
The schoolgirl, who is studying for Highers at Sanquhar Academy suffers from a rare genetic hormone disorder called pseudohypoparathyroidism.
Pseudohypoparathyroidism (PHP) [2] defines a heterogeneous group of rare and related disorders of end-organ resistance primarily impacting the actions of parathyroid hormone.