Results 221 to 230 of about 445,228 (273)

Nonclassical Congenital Adrenal Hyperplasia Presenting With Isolated Hirsutism in a Young Adult: A Case Report. [PDF]

Cureus
Navabi K, Bose V.
europepmc   +1 more source

Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns [PDF]

J Clin Res Pediatr Endocrinol
Yavaş Abalı Z, Kurnaz E, Güran T.
europepmc   +1 more source

Perception of women with classic congenital adrenal hyperplasia and their parents on genital surgery and a diagnosis of differences of sex development: a retrospective survey. [PDF]

J Endocrinol Invest
Tschaidse L, Sappl A, Nowotny HF, Welp AC, Auer MK, Schmidt H, Reisch N.   +6 more
europepmc   +1 more source

Clinical heterogeneity and imaging-driven genetic screening priorities in patients with radiologically suspected primary bilateral macronodular adrenal hyperplasia. [PDF]

Endocr Connect
Xu H, Li B, Chen K, Zhou H, Ma W, Wang Y, Yin Y, Gu W, Mu Y, Lyu Z.   +9 more
europepmc   +1 more source

Navigating Cervical Cancer Risk in a Patient With Classic Congenital Adrenal Hyperplasia (CAH): A Case Report. [PDF]

Cureus
Aswani A, Butt E, Akinooye O, Chokapirat C, Osaretin O.   +4 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

Yearbook of Paediatric Endocrinology, 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.
Matthias K, Auer, Anna, Nordenström, Svetlana, Lajic, Nicole, Reisch   +3 more
openaire   +3 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

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

New England Journal of Medicine, 2020
CAH 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