Results 81 to 90 of about 1,082 (133)

Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report

The Turkish Journal of Pediatrics, 2005
A case is described of a three-day-old female with salt wasting type of 21-hydroxylase deficient congenital adrenal hyperplasia who presented with acanthosis nigricans of both axillae.
Selim Kurtoğlu, M Emre Atabek, Mehmet Keskin, Ozlem Canöz   +3 more
doaj  

CLINICAL PROFILE OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFIICIENCY

National Journal of Medical Research, 2016
Introduction: 21 Hydroxylase deficiency is the most common enzymatic deficiency seen in XX-DSDs. 11-deoxycorticosterone and 11-deoxycortisol are deficient in the most-severe, “salt-wasting” form of this disease.
Sheeraz A Dar, Bashir A Charoo, Iqbal A Qzai, Javeed I Bhat, Mushtaq A Sheikh, Ikhlas Ahmad, Wajid Ali Syed, Asif Ahmed   +7 more
doaj  

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Pregnancy with congenital adrenal hyperplasia

Journal of Obstetrics and Gynaecology, 1998
A K, Mandal, M, De, P J, Stannard, R, Paisey   +3 more
openaire   +2 more sources

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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.
Matthias K Auer, Anna Nordenström, Svetlana Lajic   +2 more
exaly   +3 more sources

Congenital Adrenal Hyperplasia

New England Journal of Medicine, 2003
Congenital 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, Speiser Phyllis W   +2 more
exaly   +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

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

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
openaire   +2 more sources