Results 91 to 100 of about 1,082 (133)

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

Pediatric Annals
Congenital adrenal hyperplasia (CAH) is a rare disorder that typically presents in childhood. Affected female infants are most often discovered at birth due to virilized external genitalia, while male infants are diagnosed after newborn screening or, when none is available, during adrenal crisis. CAH is an autosomal recessive disorder with
Sarah K, Anisowicz, Karen S, Vogt
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Congenital Adrenal Hyperplasia

AJN, American Journal of Nursing, 1976
The 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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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 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 HYPERPLASIA

Endocrinology and Metabolism Clinics of North America, 1997
A clinical spectrum, varying from prenatal onset to postnatal onset of symptoms, exists in all hyperandrogenic forms of congenital adrenal hyperplasia (CAH). Postnatal onset hyperandrogenic symptoms such as premature pubarche, clitoromegaly, hirsutism, menstrual disorders and infertility are well known manifestations of CAH due to 21-hydroxylase ...
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Growth in congenital adrenal hyperplasia

The Indian Journal of Pediatrics, 2006
Individuals with congenital adrenal hyperplasia (CAH) are shorter, on an average, than the general population. A recent meta analysis of final height in CAH indicated that the height deficit is typically 1 to 2 standard deviations below the mean in both males and females.
An Tt, Nguyen, Justin J, Brown, Garry L, Warne   +2 more
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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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