Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations-Reference-Cited by-同舟云学术

Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations

Published:2018-03 Issue:1 Volume:17 Page:127-132
ISSN:1109-3099
Container-title:Hormones
language:en
Short-container-title:Hormones

Author:

Bulsari Krupali,Maple-Brown Louise,Falhammar Henrik

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/article/10.1007/s42000-018-0006-8/fulltext.html

Reference26 articles.

1. Speiser PW, Azziz R, Baskin LS et al (2010) Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95:413341–413360

2. Falhammar H, Thoren M (2012) Clinical outcomes in the management of congenital adrenal hyperplasia. Endocrine 41:355–373

3. Zachmann M, Tassinari D, Prader A (1983) Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients. J Clin Endocrinol Metab 56:222–229

4. Nimkarn S, New MI (2008) Steroid 11beta-hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab 19:96–99

5. Arlt W, Willis DS, Wild SH et al (2010) Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab 95:5110–5121

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The association of infant urinary adrenal steroids with the risk of childhood asthma development;Annals of Allergy, Asthma & Immunology;2024-08

2. Rare secondary hypertension caused by compound heterozygous CYP17A1 mutations: a case report;European Heart Journal - Case Reports;2024-06-29

3. Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature;Endocrine;2024-02-27

4. Steroid 11β-hydroxylase deficiency and related disorders;Genetic Steroid Disorders;2023

5. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia;The Journal of Steroid Biochemistry and Molecular Biology;2021-07