Suntharalingham, JP;
Buonocore, F;
Duncan, AJ;
Achermann, JC;
(2015)
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Best Practice & Research Clinical Endocrinology & Metabolism
, 29
(4)
pp. 607-619.
10.1016/j.beem.2015.07.004.
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Abstract
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. This condition typically affects boys and presents as primary adrenal insufficiency in early infancy or childhood, hypogonadotropic hypogonadism at puberty and impaired spermatogenesis. Late onset forms of this condition and variant phenotypes are increasingly recognized. In contrast, disruption of SF-1 only rarely causes adrenal insufficiency, usually in combination with testicular dysgenesis. Variants in SF-1/NR5A1 more commonly cause a spectrum of reproductive phenotypes ranging from 46,XY DSD (partial testicular dysgenesis or reduced androgen production) and hypospadias to male factor infertility or primary ovarian insufficiency. Making a specific diagnosis of DAX-1 or SF-1 associated conditions is important for long-term monitoring of endocrine and reproductive function, appropriate genetic counselling for family members, and for providing appropriate informed support for young people.
| Type: | Article |
|---|---|
| Title: | DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. |
| Location: | Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.beem.2015.07.004 |
| Publisher version: | http://dx.doi.org/10.1016/j.beem.2015.07.004 |
| Language: | English |
| Additional information: | “© 2015 The Authors. Published by Elsevier Ltd. This open Access Article is made available under a Creative Commons Attribution Non-commercial Non-derivative 4.0 International license (CC BY-NC-ND 4.0). This license allows you to share, copy, distribute and transmit the work for personal and non-commercial use providing author and publisher attribution is clearly stated. Further details about CC BY licenses are available at http://creativecommons.org/ licenses/by/4.0. Access may be initially restricted by the publisher. |
| Keywords: | 46,XY disorders of sex development, Addison disease, DAX-1, SF-1, X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism, hypospadias, infertility, primary adrenal insufficiency, primary ovarian insufficiency |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1472175 |
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