13 результати
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
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
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
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 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,
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
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
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
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
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
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
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
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