Results 191 to 200 of about 63,700 (243)

Leptin and adiponectin in children and young persons with congenital adrenal hyperplasia. [PDF]

Eur J Endocrinol
Bacila IA, Lawrence NR, Alvi S, Cheetham TD, Crowne E, Das U, Dattani MT, Davies JH, Gevers E, Keevil B, Krone RE, Lawrie A, Patel L, Randell T, Ryan FJ, Ahmed SF, Krone NP.   +16 more
europepmc   +1 more source

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +1 more source

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient. [PDF]

Front Endocrinol (Lausanne)
Casiraghi A, Campi I, Federici S, Cernigliaro F, Menabò S, Persani L.   +5 more
europepmc   +1 more source

Prevalence of Psychiatric Comorbidities in Females With Classic Congenital Adrenal Hyperplasia.

J Clin Endocrinol Metab
Khorashad BS, Kaabi O, Gardner MD, Getahun D, Goodman M, Lash TL, Lee PA, May J, McCracken C, Muzik M, Vupputuri S, Yacoub R, Sandberg DE.   +12 more
europepmc   +1 more source

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Congenital adrenal hyperplasia

Lancet, The, 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.
Anna Nordenström, Svetlana Lajic, Nicole Reisch   +2 more
exaly   +3 more sources

Congenital adrenal hyperplasia [PDF]

Lancet, The, 2017
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21.
Diala El-Maouche, Wiebke Arlt, Deborah P Merke   +2 more
exaly   +6 more sources

Congenital Adrenal Hyperplasia

Clinical Biochemistry, 1973
The 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.
M I, New, L S, Levine
openaire   +4 more sources

Congenital Adrenal Hyperplasia

Journal of Pediatric and Adolescent Gynecology, 2011
Congenital 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.
Selma Feldman, Witchel, Ricardo, Azziz
openaire   +4 more sources

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia [PDF]

Endocrinology and Metabolism Clinics of North America, 2015
Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical ...
Adina F Turcu, Richard J Auchus
exaly   +3 more sources