Results 171 to 180 of about 401,716 (213)

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 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 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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Genetics of Congenital Adrenal Hyperplasia

Endocrinology and Metabolism Clinics of North America, 2017
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with more than 95% of all cases caused by 21-hydroxylase deficiency.
Fady, Hannah-Shmouni, Wuyan, Chen, Deborah P, Merke   +2 more
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Congenital adrenal hyperplasia in adults

Expert Review of Endocrinology & Metabolism, 2009
Hyperandrogenism in congenital adrenal hyperplasia (CAH) results from overstimulation of adrenocorticotropic-driven androgen production in the adrenal cortex due to lack of cortisol feedback. The classical form is characterized by more-severe symptoms of hyperandrogenism, including virilization of the female genitalia.
Karen, Lin-Su, Saroj, Nimkarn, Maria I, New   +2 more
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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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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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Pregnancy in Congenital Adrenal Hyperplasia

Endocrinology and Metabolism Clinics of North America, 2019
Fertility rates in classic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency are substantially decreased for various reasons, including hormonal, anatomic, psychosocial, and psychosexual causes. However, fecundity is comparable with the general population. Under optimal hormone replacement, the course and outcome of pregnancies is also
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OESTROGENS IN CONGENITAL ADRENAL HYPERPLASIA

Acta Endocrinologica, 1967
ABSTRACT Urinary oestrogen excretion was studied in 11 subjects with congenital adrenal hyperplasia, including 7 children and 3 castrates. Oestrogen excretion was significantly elevated in older children and adults, and could be decreased by adrenal suppression with steroids.
Joseph W. Goldzieher, F. G. Boyd
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