Camats Tarruella, Núria; Üstyol, Ala; Atabek, Mehmet Emre; Dick, Bernhard; Flück, Christa Emma (2015). A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene. Clinical case reports, 3(10), pp. 793-797. Wiley 10.1002/ccr3.343
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A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie) 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Camats Tarruella, Núria, Flück Pandey, Christa Emma |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2050-0904 |
Publisher: |
Wiley |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
11 Apr 2016 16:17 |
Last Modified: |
02 Mar 2023 23:27 |
Publisher DOI: |
10.1002/ccr3.343 |
PubMed ID: |
26509008 |
Uncontrolled Keywords: |
17α-hydroxylase/17,20-lyase deficiency; hypertension; pubertal development; sexual development; steroidogenesis |
BORIS DOI: |
10.7892/boris.79277 |
URI: |
https://boris.unibe.ch/id/eprint/79277 |
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