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Congenital Adrenal Hyperplasia
Urologic Clinics of North America, 1977SUMMARY In summary, the term congenital adrenal hyperplasia refers to a group of inherited disorders of adrenal steroidogenesis that frequently causes ambiguous genitalia in utero. 21-hydroxylase and 11-hydroxylase deficiencies, which account for more than 95 per cent of the cases, cause ambiguous genitalia in the female due to virilization of the ...
Janet H. Silverstein, Stuart Handwerger
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Congenital Adrenal Hyperplasia
AJN, American Journal of Nursing, 1976The child with congenital adrenal hyperplasia can lead a normal life provided the diagnosis is made early. But daily adjustment of medication makes up the day of families whose children have this genetically determined condition. Although uncommon statistically, the condition poses real problems to the parents and staff who manage the child's health ...
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Journal of Biomolecular Structure and Dynamics, 2019
Congenital adrenal hyperplasia is an inherited autosomal recessive disorder related to deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 21A2), an enzyme involved in cortisol synthesis, is responsible for ∼95% of ...
Jorddy Neves Cruz +3 more
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Congenital adrenal hyperplasia is an inherited autosomal recessive disorder related to deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 21A2), an enzyme involved in cortisol synthesis, is responsible for ∼95% of ...
Jorddy Neves Cruz +3 more
semanticscholar +1 more source
Congenital adrenal hyperplasia
Dermatologic Therapy, 2008The congenital adrenal hyperplasias are a group of autosomal recessive disorders associated with impaired steroidogenesis. Several types of the congenital adrenal hyperplasias are associated with decreased cortisol production and excessive adrenal sex steroid secretion.
Selma F. Witchel, Cem Demirci
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Clinical Endocrinology, 2019
In patients with congenital adrenal hyperplasia (CAH) type and doses of glucocorticoids used as well as sex hormone secretion during puberty have important actions on bone mineral density (BMD) in adulthood.
G. Riehl +5 more
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In patients with congenital adrenal hyperplasia (CAH) type and doses of glucocorticoids used as well as sex hormone secretion during puberty have important actions on bone mineral density (BMD) in adulthood.
G. Riehl +5 more
semanticscholar +1 more source
Congenital adrenal hyperplasia
The Lancet, 2005Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency.
Deborah P Merke, Stefan R. Bornstein
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Congenital Adrenal Hyperplasia
Pediatrics In Review, 20001. Lenore S. Levine, MD* 1. 2. *Director of Pediatric Endocrinology, Professor of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, NY. After reading this articles, readers should be able to: 1. List the most common cause of ambiguous genitalia in the female infant. 2. Describe the hallmark of 21-hydroxylase
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HYPOGLYCAEMIA AND CONGENITAL ADRENAL HYPERPLASIA
Acta Paediatrica, 1979Abstract. We report the case history of a child with congenital adrenal hyperplasia which was complicated by recurrent hypoglycaemic episodes during common infections. There are few reports in literature on the association of hypoglycaemia and congenital adrenal hyperplasia.
Gemelli M, DE LUCA, Filippo, Barberio G.
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Mineralocorticoids in congenital adrenal hyperplasia
The Journal of Steroid Biochemistry and Molecular Biology, 1991While hypertension is observed in only two of the three major subtypes of congenital adrenal hyperplasia (CAH), 11 beta- and 17 alpha-hydroxylase deficiencies, deoxycorticosterone (DOC) production is increased in all. The elevated zona fasciculata (ZF) DOC produces mineralocorticoid hypertension with suppressed renin and reduced potassium ...
Biglieri, E. G., Kater, C. E.
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Congenital adrenal hyperplasias
Best Practice & Research Clinical Endocrinology & Metabolism, 2001Congenital adrenal hyperplasia syndromes result from deficiencies of enzymes involved in corticosteroid biosynthesis. Most commonly, they are due to mutations in 21-hydroxylase. This chapter describes the clinical diagnosis and management of congenital adrenal hyperplasias throughout life, including in the fetus, child and adult.
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