Results 251 to 260 of about 72,115 (280)
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Congenital adrenal hyperplasia
Yearbook of Paediatric Endocrinology, 2023Congenital 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 +3 more
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Congenital Adrenal Hyperplasia
New England Journal of Medicine, 2003Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex.
Phyllis W, Speiser, Perrin C, White
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Congenital Adrenal Hyperplasia
Urologic Clinics of North America, 1977SUMMARY 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
AJN, American Journal of Nursing, 1976The 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
Endocrinology and Metabolism Clinics of North America, 1997A 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
Dermatologic Therapy, 2008The 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
The Lancet, 2005Congenital 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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Unilateral Adrenal Hyperplasia
Southern Medical Journal, 1994A case of unilateral primary adrenal hyperplasia, without concomitant hypokalemia, is presented. After surgical removal of the gland, a complete remission occurred. This rare condition may, in fact, be more frequent than thought as it can coexist with normokalemia.
D, Pignatelli +3 more
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Congenital adrenal hyperplasia
Medicine, 1990Congenital 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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Nonclassic adrenal hyperplasia
Fertility and Sterility, 2006Among 297 women with nonclassic adrenal hyperplasia (NCAH), premature pubarche was the most common complaint in girls (87%), and the frequency of hirsutism increased progressively with age from adolescence (50%) to adulthood (70%). The frequency of spontaneous miscarriages was high in NCAH patients (20%), but it decreased significantly after treatment.
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