Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents
SSN Um, RM Betoko, I Mekone, AB Chetcha… - Journal of Pediatric …, 2022 - degruyter.com
Objectives Congenital adrenal hyperplasia (CAH) remains one of the most challenging
endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack …
endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack …
[HTML][HTML] Diagnosis of CAH in a Sub Saharan Country: Visible Part of Iceberg
S Sap, R Mbono, H Kamo, J Tony, C Eposse… - Open Journal of …, 2024 - scirp.org
Introduction: Congenital adrenal hyperplasia (CAH) is the most common cause of primary
adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence …
adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence …
[HTML][HTML] Congenital adrenal hyperplasia: diagnostic features in a limited resource country, Senegal
B Niang, F Ly, A Ba, A Mbaye, D Boiro, PM Faye… - Open Journal of …, 2020 - scirp.org
Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive
diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids …
diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids …
Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study
ME Ertorer, I Anaforoglu, N Yilmaz, G Akkus, S Turgut… - Endocrine, 2024 - Springer
Background and aims Congenital adrenal hyperplasia (CAH) is a group of disorders that
affect the production of steroids in the adrenal gland and are inherited in an autosomal …
affect the production of steroids in the adrenal gland and are inherited in an autosomal …
[HTML][HTML] Complex alleles of CYP21A2 are the most frequent causes of congenital adrenal hyperplasia in Iranian population
NA Kollahi, F Rohani, F Baghbani-arani… - Iranian Journal of …, 2019 - brieflands.com
Objectives: The purpose of this study was to investigate CYP21A2 mutations in Iranian
congenital adrenal hyperplasia (CAH) patients. Methods: In 25 patients, the first PCR was …
congenital adrenal hyperplasia (CAH) patients. Methods: In 25 patients, the first PCR was …
The spectrum of genetic defects in congenital adrenal hyperplasia in the population of Cyprus: a retrospective analysis
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is
caused by mutations in the CYP21A2 gene. The study refers to CAH patients of Greek …
caused by mutations in the CYP21A2 gene. The study refers to CAH patients of Greek …
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
RGY Al-Obaidi, BMS Al-Musawi… - Enzyme …, 2016 - Wiley Online Library
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most
frequent one is 21‐hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far …
frequent one is 21‐hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far …
21-Hydroxylase and 11β-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia
A Grigorescu Sido, MM Weber… - The Journal of …, 2005 - academic.oup.com
Context: Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders
mainly due to defects in the 21-hydroxylase (CYP21) gene. Objective: The study aimed to …
mainly due to defects in the 21-hydroxylase (CYP21) gene. Objective: The study aimed to …
[HTML][HTML] Experience with congenital adrenal hyperplasia in Tripoli Children's Hospital, Libya
I Abulgassem, F BenRajab - Journal of Diabetes and Endocrine …, 2022 - thieme-connect.com
Congenital adrenal hyperplasia (CAH) denotes a group of autosomal recessive disorders.
Its clinical spectrum varies from classical CAH (CCAH) to nonclassic CAH. It may be a …
Its clinical spectrum varies from classical CAH (CCAH) to nonclassic CAH. It may be a …
[PDF][PDF] Intron 2 splice mutation at CYP21 gene in patients with congenital adrenal hyperplasia in the republic of Macedonia
V Anastasovska, M Kocova - Balkan Journal of Medical Genetics, 2010 - sciendo.com
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. In 90-95% of
cases it results from mutations in the gene for 21-hydroxylase (CYP21, also termed …
cases it results from mutations in the gene for 21-hydroxylase (CYP21, also termed …