Steroid 11β-hydroxylase deficiency and related disorders
PC White - Genetic Steroid Disorders, 2023 - Elsevier
Humans have two isozymes with 11β-hydroxylase activity that are respectively required for
cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol …
cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol …
[HTML][HTML] Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review
D Wang, J Wang, T Tong, Q Yang - Journal of ovarian research, 2018 - Springer
Abstract Background 11β-hydroxylase deficiency (11OHD) is extremely rare, and reports of
non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature …
non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature …
[HTML][HTML] The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia
Background Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires
lifelong treatment. Patients may face stigmatization, which may affect their quality of life …
lifelong treatment. Patients may face stigmatization, which may affect their quality of life …
Molecular genetics of disorders of sex development in a highly consanguineous population
M Alswailem, A Alsagheir, BB Abbas… - The Journal of Steroid …, 2021 - Elsevier
Consanguinity increases the risk of hereditary diseases including disorders of sex
development (DSD). There are minimal data on DSD in the highly consanguineous …
development (DSD). There are minimal data on DSD in the highly consanguineous …
Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants
I Fylaktou, P Smyrnaki, A Sertedaki, M Dracopoulou… - Hormones, 2022 - Springer
Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder
caused by pathogenic variants in seven genes involved in the cortisol and aldosterone …
caused by pathogenic variants in seven genes involved in the cortisol and aldosterone …
[PDF][PDF] Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature
D Wang, J Wang, T Tong, Q Yang - 2018 - ovarianresearch.biomedcentral.com
Abstract Background: 11β-hydroxylase deficiency (11OHD) is extremely rare, and reports of
non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature …
non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature …