pseudopseudohypoparathyroidism/cyclic amp

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مقالاتالتجارب السريريةبراءات الاختراع

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13 النتائج

Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophy.

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Purified bovine parathyroid hormone (BPTH) given by injection to five patients with Turner's syndrome, and seven healthy volunteers produced a significant rise in plasma cyclic AMP reacing a maximum within 10 min. In a pseudohypoparathyroid patient there was no increase. Urinary excretion of cyclic

Secondary hyperparathyroidism with 1,25-dihydroxyvitamin D deficiency and pseudohypoparathyroidism in childhood: relationship between plasma 1,25-dihydroxyvitamin D and parathyroid hormone levels and urinary cyclic AMP response to exogenous PTH.

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In order to clarify the complex interrelationship between serum calcium, 1,25-dihydroxyvitamin D (1,25(OH)2D), and parathyroid hormone (PTH), and the urinary excretion of cyclic AMP (cAMP) in response to exogenous PTH in pseudohypoparathyroidism (PHP) and related diseases, we investigated 3 patients

Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyreoidism.

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A family from Western Norway is described in which 5 out of 9 members in one generation developed a progressive encephalopathy in middle life. Massive, symmetrical calcifications located in basal ganglia, dentate nuclei and cerebral sulci of the brain were seen on roentgenograms of the skull. All

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.

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BACKGROUND Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in the

1,25-Dihydroxyvitamin D production after stimulation with synthetic human parathyroid hormone (1-34) in hypoparathyroid and renal tubular disorders.

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1,25-dihydroxyvitamin D production in response to two successive infusions of synthetic active 1-34 fragment of human PTH [hPTH-(1-34)] was evaluated in order to develop an understanding of the vitamin D metabolism and the rationale of vitamin D therapy in calcium disorders. Five normal controls,

Characterization of Albright hereditary osteodystrophy and related disorders.

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Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder with characteristic skeletal and developmental defects and reduced expression or activity of the alpha chain of the G protein that stimulates adenylyl cyclase (Gs alpha). Most patients with AHO exhibit target tissue

[Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ia and Ic and pseudohypoparathyroidism].

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UNASSIGNED This familial hereditary condition is characterized by the association of Albright's osteodystrophy, resistance to parathormone (PTH) and a negative PTH test both for urinary phosphorus and cyclic AMP. The condition is caused by an anomalous alpha sub-unit of protein G, impairing its

Evolution of pseudohypoparathyroidism: an informative family study.

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An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2.5 years he had features of pseudohypoparathyroidism with raised parathyroid hormone and 'flat' cyclic AMP

[Pseudohypoparathyroidism and the concept of hormonal resistance. Diagnosis, classification and therapy].

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CLINICAL AND BIOLOGICAL FEATURES: Pseudohypoparathyroidism is a heterogenous group of conditions with variable clinical and biological features and a common resistance to parathormone (PTH) leading to hypocalcemia associated with high levels of PTH. The classification of these conditions depends on

Pseudohypoparathyroidism: a difficult diagnosis in early childhood.

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We have studied one adult and three children with pseudohypoparathyroidism and observed that the physical character of short metacarpal bones is not evident in the first 4-5 years of life, that hypocalcaemia and hyperphosphataemia may be absent in the first years of life, but that the renal

Cutaneous ossification in Albright's hereditary osteodystrophy.

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A 23-year-old woman presented with subcutaneous ossification, which together with short stature, stocky physique, round face and brachydactyly suggested Albright's hereditary osteodystrophy (AHO). Serum calcium and phosphorus levels were normal. AHO refers to the phenotype of the syndromes of

Pseudohypoparathyroidism: current concepts.

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Following a brief discussion of the diagnosis and classification of hypoparathyroidism, this review will focus on current concepts of pseudohypoparathyroidism. Topics to be covered will include differing resistance of kidney and bone to parathyroid hormone, relationship of estrogen and pregnancy to

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

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Acrodysostosis is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A were reported in patients with acrodysostosis and hormone resistance. Subsequently, mutations in a phosphodiesterase gene (PDE4D) were

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