Results 281 to 290 of about 54,890 (322)
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Congenital adrenal hyperplasia
The Lancet, 2022Congenital 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.
M. Auer +3 more
semanticscholar +3 more sources
Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]
Clinical Endocrinology, 2018 Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Georgina L. Chrisp +8 more
semanticscholar +3 more sources
Congenital Adrenal Hyperplasia
New England Journal of Medicine, 1987Congenital 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 +2 more
openaire +10 more sources
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
New England Journal of Medicine, 2020CAH Due to 21-Hydroxylase Deficiency Congenital adrenal hyperplasia, a common autosomal recessive disorder, is potentially life-threatening in its classic form and may be asymptomatic or cause fema...
D. Merke, R. Auchus
semanticscholar +1 more source
Congenital Adrenal Hyperplasia
Clinical Biochemistry, 1973The enzyme defects of steroidogenesis appear to be monogenic disorders. The clinical heterogeneity of these disorders suggests allelic variations at the loci for these disorders, as has been reported for other gentic inborn errors. When the genes for these enzymes are cloned and sequenced, the final proof of allelism will be obtained.
Lenore S. Levine, Maria I. New
openaire +6 more sources
Congenital adrenal hyperplasia
Clinical Biochemistry, 2011Congenital adrenal hyperplasia (CAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features reflect the magnitude of the loss of function mutations.
Ricardo Azziz, Selma F. Witchel
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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
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 ...
openaire +3 more sources