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CONGENITAL ADRENAL HYPERPLASIA [PDF]

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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Congenital adrenal hyperplasia

The Lancet, 2023
Congenital adrenal hyperplasia is a group of autosomal recessive disorders leading to multiple complex hormonal imbalances caused by various enzyme deficiencies in the adrenal steroidogenic pathway. The most common type of congenital adrenal hyperplasia is due to steroid 21-hydroxylase (21-OHase, henceforth 21OH) deficiency.
Matthias K, Auer, Anna, Nordenström, Svetlana, Lajic, Nicole, Reisch   +3 more
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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

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 ...
Janet H. Silverstein, Stuart Handwerger
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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

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.
Selma F. Witchel, Cem Demirci
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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

Pediatrics In Review, 2000
1. 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, 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

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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