Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women

E Carmina, D Dewailly… - Human reproduction …, 2017 - academic.oup.com
BACKGROUND Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase
deficiency is a common autosomal recessive disorder characterized by androgen excess …

[PDF][PDF] Nonclassic congenital adrenal hyperplasia

SF Witchel, R Azziz - International journal of pediatric endocrinology, 2010 - Springer
Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase
deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in …

[HTML][HTML] Fertility in patients with congenital adrenal hyperplasia

DE Reichman, PC White, MI New, Z Rosenwaks - Fertility and sterility, 2014 - Elsevier
Congenital adrenal hyperplasia (CAH) is the most frequently encountered genetic steroid
disorder affecting fertility. Steroid hormones play a crucial role in sexual development and …

Polycystic ovary syndrome and NC-CAH: distinct characteristics and common findings. A systematic review

G Papadakis, EA Kandaraki, E Tseniklidi… - Frontiers in …, 2019 - frontiersin.org
Background: Twenty-one-hydroxylase–deficient non-classic adrenal hyperplasia (NC-CAH)
is a very common autosomal recessive syndrome with prevalence between 1: 1,000 and 1 …

Disorders of the adrenal cortex: Genetic and molecular aspects

G Pitsava, AG Maria, FR Faucz - Frontiers in Endocrinology, 2022 - frontiersin.org
Adrenal cortex produces glucocorticoids, mineralocorticoids and adrenal androgens which
are essential for life, supporting balance, immune response and sexual maturation …

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

V Guarnotta, M Niceta, M Bono, S Marchese… - The Journal of Steroid …, 2020 - Elsevier
Non-classical congenital adrenal hyperplasia (NC-CAH) includes a group of genetic
disorders due to a broad class of CYP21A2 variants identifying a disease-causing …

The diagnosis of nonclassic congenital adrenal hyperplasia due to 21‐hydroxylase deficiency, based on serum basal or post‐ACTH stimulation 17 …

U Ambroziak, A Kępczyńska‐Nyk… - Clinical …, 2016 - Wiley Online Library
Objective As nonclassic congenital adrenal hyperplasia (NCCAH) needs to be taken into
account in women with hyperandrogenism, we aimed to assess whether the recommended …

Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency–characterization of a new genetic variant

CM Øzdemir, MM Nielsen, J Liimatta… - … & metabolism case …, 2024 - edm.bioscientifica.com
Congenital adrenal hyperplasia (CAH) is one of the most common inherited rare endocrine
disorders. This case report presents two female siblings with delayed diagnosis of non …

Congenital adrenal hyperplasia because of 21-hydroxylase deficiency: a genetic disorder of interest to obstetricians and gynecologists

E Trakakis, C Loghis, D Kassanos - Obstetrical & gynecological …, 2009 - journals.lww.com
Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-
OH), is distinguished in its classical and nonclassical form and is one of the most common …

The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism

K Unluhizarci, M Kula, M Dundar… - Gynecological …, 2010 - Taylor & Francis
The prevalence of non-classic adrenal hyperplasia (NCAH) among Turkish women with
hirsutism has not been established so far. Thus, we aimed to evaluate the prevalence of 21 …