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Gynecological Endocrinology Volume 29, 2013 - Issue 7
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Adrenal Enzyme Deficiency

A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency

Eun Sil LeeDepartment of Obstetrics and Gynecology, Soonchunhyang University SeoulKorea
,
Myungshin KimCatholic Genetic Laboratory Center, Department of Laboratory Medicine, The Catholic University of Korea SeoulKorea
,
Sungdae MoonDepartment of Internal Medicine
,
Dong Wook JekarlDepartment of Laboratory Medicine, Mary’s Hospital, The Catholic University of Korea SeoulKorea
,
Seungok LeeDepartment of Laboratory Medicine, Mary’s Hospital, The Catholic University of Korea SeoulKoreaCorrespondence[email protected]
,
Yonggoo KimCatholic Genetic Laboratory Center, Department of Laboratory Medicine, The Catholic University of Korea SeoulKorea
&
Gyu Yeon ChoiDepartment of Obstetrics and Gynecology, Soonchunhyang University SeoulKorea
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Pages 720-723 | Received 07 Jan 2013, Accepted 16 Apr 2013, Published online: 18 Jun 2013

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Giulia Lanzolla, Giuseppe Vancieri, Silvia Lanciotti, Federica Sangiuolo, Elisa Menegatti, Luca Federici, Costanzo Moretti & Francesco Brancati. (2017) The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female. Gynecological Endocrinology 33:12, pages 918-922.
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Mengte Shi, Xiaojun Chen, Qi Zhou & Feixia Shen. (2014) Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency. Gynecological Endocrinology 30:12, pages 890-893.
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Articles from other publishers (4)

Yijia Deng, Qi Deng, Yaling Wang, Lijun Sun, Rundong Wang, Lin Ye, Jianmeng Liao & Ravi Gooneratne. (2020) Tolerance and bio-accumulation of aflatoxin B1 in invertebrate Litopenaeus vannamei and vertebrate Oreochromis niloticus. Aquaculture 524, pages 735055.
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Eun Yeong Mo, Ji-young Lee, Su Yeon Kim, Min Ji Kim, Eun Sook Kim, Seungok Lee, Je Ho Han & Sung-dae Moon. (2018) Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency . Endocrinology and Metabolism 33:3, pages 413.
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Megh Raj Bhatt, Yogan Khatri, Raymond J. Rodgers & Lisandra L. Martin. (2017) Role of cytochrome b5 in the modulation of the enzymatic activities of cytochrome P450 17α-hydroxylase/17,20-lyase (P450 17A1). The Journal of Steroid Biochemistry and Molecular Biology 170, pages 2-18.
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Ekrem M. Bilgin & Ertug Kovanci. (2015) Genetics of premature ovarian failure. Current Opinion in Obstetrics & Gynecology 27:3, pages 167-174.
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