Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male-Reference-Cited by-同舟云学术

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Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male

Published:2024-06 Issue: Volume:69 Page:104952
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kara Leyla,Cicek Dilek,Siraz Ulku Gul^ORCID,Erdogan Murat,Sarikaya Emre,Gok Ebru,Berber Ugur,Kurtoglu Selim,Kendirci Mustafa,Hatipoglu Nihal

Publisher

Elsevier BV

Reference12 articles.

1. Dual heterozygous mutations in CYP21A2 and CYP11B1 in a case of nonclassic congenital adrenal hyperplasia;Frontera;AACE Clin Case Rep,2022

2. Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome;Goldsmith;N. Engl. J. Med.,1967

3. Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients;Han;Gene,2013

4. https://www.omim.org/entry/609300?search=cyp17a1&highlight=cyp17a1.

5. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance;Khattab;Ann. N. Y. Acad. Sci.,2016

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