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A case of 17 alpha-hydroxylase deficiency

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Author(s)
Sung Mee KimJeong Ho Rhee
Keimyung Author(s)
Rhee, Jeong Ho
Department
Dept. of Obstetrics & Gynecology (산부인과학)
Journal Title
Clinical and Experimental Reproductive Medicine
Issued Date
2015
Volume
42
Issue
2
Abstract
17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with 17α-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with 17α-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with 17α-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.
Keimyung Author(s)(Kor)
이정호
Publisher
School of Medicine
Citation
Sung Mee Kim and Jeong Ho Rhee. (2015). A case of 17 alpha-hydroxylase deficiency. Clinical and Experimental Reproductive Medicine, 42(2), 72–76. doi: 10.5653/cerm.2015.42.2.72
Type
Article
ISSN
2233-8233
DOI
10.5653/cerm.2015.42.2.72
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/39397
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Obstetrics & Gynecology (산부인과학)
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