Results 231 to 240 of about 38,744 (248)

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

2019
Congenital adrenal hyperplasia (CAH) is a group of seven autosomal recessively inherited disorders of various enzymes participating in adrenal steroid hormone synthesis. Patients present with various symptoms depending on the nature and severity of the enzymatic block. More than 95% of all CAH patients suffer from 21-hydroxylase deficiency. The genetic
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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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Congenital Virilizing Adrenal Hyperplasia

Archives of Pediatrics & Adolescent Medicine, 1960
In the past several years, great strides have been made in the elucidation of certain inborn defects in steroid metabolism. This has led to a better understanding of the pathophysiology of congenital virilizing adrenal hyperplasia and has given us a more rational approach to the treatment of this disorder.
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