El-Khairi, R;
Martinez-Aguayo, A;
Ferraz-de-Souza, B;
Lin, L;
Achermann, JC;
(2011)
Role of DAX-1 (NROB1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function.
In: Ghizzoni, L and Cappa, M and Chrousos, G and Loche, S and Maghnie, M, (eds.)
Pediatric Adrenal Diseases.
(38 - 46).
Karger: Basel, Switzerland.
Preview |
Text (Article)
Achermann_DAX-1_and_SF-1_submitted_290610.pdf Download (125kB) | Preview |
Preview |
Text (Figure 1)
Achermann_fig 1 _Achermann_DAX-1_and_SF-1_submitted_290610.pdf Download (79kB) | Preview |
Preview |
Text (Figure 2)
Achermann_fig 2 _Achermann_DAX-1_and_SF-1_submitted_290610.pdf Download (16kB) | Preview |
Abstract
The nuclear receptor transcription factors DAX-1 (NROB1) and SF-1 (NR5A1) regulate many aspects of adrenal and reproductive development and function. Disruption of the genes encoding these factors can be associated with pediatric adrenal disease. DAX-1 mutations are classically associated with X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism and impaired spermatogenesis. However, other phenotypes are also being reported, such as isolated mineralocorticoid insufficiency, premature sexual development, primary adrenal insufficiency in a 46,XX patient and late-onset X-linked adrenal hypoplasia congenita and/or hypogonadotropic hypogonadism. SF-1 mutations have also been associated with primary adrenal insufficiency, together with 46,XY disorders of sex development. However it is emerging that SF-1 changes are a relatively rare cause of primary adrenal failure in humans, and most individuals with SF-1 mutations have a spectrum of 46,XY disorders of sex development phenotypes. These conditions range from 46,XY females with streak gonads and miillerian structures, through children with ambiguous genitalia and inguinal testes, to severe penoscrotal hypospadias with undescended testes. Therefore, the human gonad appears to be more sensitive than the adrenal gland to loss of SF-1 function. This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations.
| Type: | Book chapter |
|---|---|
| Title: | Role of DAX-1 (NROB1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function |
| Location: | Turin, ITALY |
| ISBN-13: | 9783805596435 |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1159/000321213 |
| Publisher version: | https://www.karger.com/Article/FullText/321213 |
| Language: | English |
| Additional information: | This is the peer-reviewed but unedited manuscript version of the following article: El-Khairi, R; Martinez-Aguayo, A; Ferraz-de-Souza, B; Lin, L; Achermann, JC; (2011) Role of DAX-1 (NROB1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function. In: Ghizzoni, L and Cappa, M and Chrousos, G and Loche, S and Maghnie, M, (eds.) Pediatric Adrenal Diseases. (38 - 46). Karger: Basel, Switzerland. The final, published version is available at: https://www.karger.com/Article/FullText/321213. |
| Keywords: | hypoplasia congenita, hypogonadotropic hypogonadism, mutational analysis, gene, insufficiency, receptor, differentiation, children, spectrum, disease |
| 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.ucl.ac.uk/id/eprint/703498 |
Archive Staff Only
 |
View Item |
