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Related to pseudohypoparathyroidism: pseudopseudohypoparathyroidism
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.
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/pseu·do·hy·po·para·thy·roi·dism/ (-hi″po-par″ah-thi´roi-dizm) a hereditary condition resembling hypoparathyroidism, but caused by failure of response to parathyroid hormone, marked by hypocalcemia and hyperphosphatemia.
a condition of end-organ resistance characterized by hypocalcemia, growth failure, and skeletal abnormalities such as short fingers. Also called Albright's hereditary osteodystrophy.
pseudohypoparathyroidismEndocrinology 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
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.
pseudohypoparathyroidismhereditary, sex-linked, dominant disorder resembling hypoparathyroidism; characterized by short stature, round face, achondroplasia, ectopic calcification of soft and nerve tissue, ectopic bone formation, hypocalcaemia, hyperphosphataemia and muscle cramps, parathyroid gland hypertrophy, short fourth metatarsals/metacarpals and learning difficulties
a condition in which there are changes characteristic of hypoparathyroidism (hypocalcemia and hyperphosphatemia) in association with hyperactive parathyroid glands and increased blood levels of parathyroid hormone. It is the result of nonresponsive target cells in bone and kidneys. Not reported in animals.