Results 181 to 190 of about 32,077 (214)

Congenital Adrenal Hyperplasia

Urologic Clinics of North America, 1977
SUMMARY 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 ...
S, Handwerger, J H, Silverstein
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Congenital adrenal hyperplasia

The Lancet, 2005
Congenital 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

Dermatologic Therapy, 2008
The 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.
Cem, Demirci, Selma Feldman, Witchel
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Congenital adrenal hyperplasias

Best Practice & Research Clinical Endocrinology & Metabolism, 2001
Congenital 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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HYPOGLYCAEMIA AND CONGENITAL ADRENAL HYPERPLASIA

Acta Paediatrica, 1979
Abstract. 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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Congenital Adrenal Hyperplasias

Endocrinology and Metabolism Clinics of North America, 1991
The congenital adrenal hyperplasias (CAH) are a very common group of genetic disorders of steroid hormone synthesis. The genes encoding each of the steroid biosynthetic enzymes have now been cloned, and the mutations in these genes that cause the various forms of CAH are being determined. The emerging picture is substantially different from traditional
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Congenital adrenal hyperplasia

Medicine, 1990
Congenital adrenal hyperplasia (CAH) results from enzymatic defects in the pathways of adrenal steroidogenesis, with over 90% of cases being due to 21-hydroxylase deficiency caused by autosomal recessive mutations in the CYP21 gene. Classical presentation—this is in the neonatal period with ambiguous genitalia/virilization of a female ...
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Congenital adrenal hyperplasia

Clinics in Endocrinology and Metabolism, 1985
Congenital adrenal hyperplasia (CAB) is an inherited disorder of adrenal steroid biosynthesis. The basic defect is the deficiency of an enzyme in the pathway of cortisol production. This results in distinct biochemical and clinical features, each depending on the site of the deficient enzyme, and on the secondary effects of steroids, which are produced
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Congenital Adrenal Hyperplasia: Unresolved Issues

2016
Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis.
Yau, Mabel, Khattab, Ahmed, Poppas, Dix, Ghizzoni, Lucia, New, Maria   +4 more
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Nonclassic congenital adrenal hyperplasia

Current Opinion in Endocrinology, Diabetes & Obesity, 2012
Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess.
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