Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.
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DOI: 10.20945/2359-3997000000437
Abstract: Objective CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier… read more here.
Keywords: cyp21a2; non carriers; pathogenic variant; non classic ... See more keywords
Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study
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DOI: 10.3389/fendo.2022.1005963
Abstract: Background Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and excess androgen production. The current standard of care is glucocorticoid (GC) therapy, and sometimes… read more here.
Keywords: consensus; adults classic; classic congenital; unmet needs ... See more keywords
Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays
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DOI: 10.3389/fendo.2022.1048663
Abstract: Context The 250µg-cosyntropin stimulation test (CST) is used to diagnose non-classic congenital adrenal hyperplasia (NCCAH). The current recommendation is to perform CST when follicular 17-hydroxyprogesterone (17OHP) is 6-30 nmol/L, a cutoff derived from radioimmunoassay (RIA).… read more here.
Keywords: non classic; ria; classic congenital; cst ... See more keywords
A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature
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DOI: 10.3389/fendo.2023.1148318
Abstract: Prader–Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11–13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive… read more here.
Keywords: adrenal hyperplasia; non classic; prader willi; classic congenital ... See more keywords
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
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DOI: 10.3892/mmr.2018.9469
Abstract: Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile-onset glaucoma and foveal and optic nerve hypoplasia. Mutations in… read more here.
Keywords: aniridia cataract; aniridia; classic congenital; congenital aniridia ... See more keywords