نتایج جستجو برای: congenital adrenal hyperplasia cah
تعداد نتایج: 200998 فیلتر نتایج به سال:
Management of adult patients with classic congenital adrenal hyperplasia (CAH) is challenging and often complicated by obesity, metabolic syndrome, and adverse cardiovascular risk. Alterations in weight can influence cortisol kinetics. A 19-year-old woman with classic CAH and morbid obesity experienced persistent elevations of androgen levels while receiving oral glucocorticoid therapy. Control...
Giant myelolipomas and inadvertent bilateral adrenalectomy in classic congenital adrenal hyperplasia
UNLABELLED Myelolipomas have been reported in patients with congenital adrenal hyperplasia (CAH). ACTH excess, as seen with non-adherence to glucocorticoid therapy, may be responsible for tumor development. We report a case of a 51-year-old man with classic salt-wasting CAH managed on prednisone 7.5 mg daily and fludrocortisone who presented with chronic back pain and was found to have giant bi...
Congenital Adrenal Hyperplasia (CAH) is an inherited condition caused by an enzyme deficiency which leads to a potentially life threatening adrenal crisis. Poor compliance and any illness, injury, or major medical procedure can be life threatening. Medical interventions, counselling and timely education are essential for these families. This study evaluated a psychosocial education program (PEP...
background: precocious puberty, as early physical development and low final height might lead to psychosocial problems. objective: to evaluate etiology and clinical feature of precocious puberty in a cohort of iranian children. materials and methods: in this case-series study, 44 girls and 8 boys with precocious puberty referred to endocrine reserch centre (firouzgar), institute of endocrinolog...
Steroidogenic acute regulatory protein (StAR) is essential for adrenal and gonadal steroidogenesis, stimulating the translocation of cholesterol to the inner mitochondrial membrane where steroidogenesis commences. StAR mutations in humans cause congenital lipoid adrenal hyperplasia (lipoid CAH), an autosomal recessive condition with severe deficiencies of all classes of steroid hormones. We pre...
Congenital adrenal hyperplasia is a disorder occurring in both sexes and is the commonest cause of ambiguous genitalia. It is a group of autosomal recessive disorders in which, on the basis of an enzyme defect the bulk of steroid hormone production by adrenal cortex shifts from corticosteroids to androgens. Autosomal recessive mutations in the CYP21, CYP17, CYP11B1 and 3betaHSD genes that encod...
Evidence has accumulated that aldosterone plays an important part in the regulation of magnesium metabolism in experimental animals. There is, however, little information concerning the effect of aldosterone on the metabolism of magnesium in man. Mader and Iseri (1955) and Milne, Muehrcke, and Aird (1957) reported a single case of primary aldosteronism, with tetany and paralysis, in which low s...
BACKGROUND Some intermediaries of cortisol synthesis, especially the sulfated ester of dehydroepiandrosterone (DHEAS), are picrotoxin-like antagonists of the gamma-aminobutyric acid A (GABA-A) receptor and exert potent anxiogenic effects. We report 5 men and 7 women with refractory anxiety disorders, who had late-onset congenital adrenal hyperplasia (CAH), and in whom interactions between neuro...
– It is difficult to calculate how many deaths could have been prevented by newborn screening for CAH unless there is a 100% autopsy rate for infant deaths. Due to the sudden onset of adrenal crisis, generally within the first 2 weeks of life, and various obstacles to obtaining a rapid diagnosis, undetected CAH-affected children who die are often classified as having died for some reason unrela...
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