Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

@inproceedings{Tantawy2012TestosteronePD,
  title={Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations},
  author={S. F. Tantawy and L Lin and Ilker Akkurt and Guntram Borck and Dietrich Klingm{\"u}ller and Berthold P. Hauffa and Heiko Krude and Heike Biebermann and John C Achermann and B. P{\'e}rez K{\"o}hler},
  booktitle={European journal of endocrinology},
  year={2012}
}
BACKGROUND Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic-pituitary-gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia, partial gonadal dysgenesis, and absent/rudimentary Müllerian structures. In these cases, testosterone is usually low in early infancy, indicating significantly impaired androgen synthesis. Further… CONTINUE READING
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The spectrum of phenotypes associated with mutations in steroidogenic factor 1 ( SF1 , NR 5 A 1 , Ad 4 BP ) includes severe penoscrotal hypospadias in 46 , XY males without adrenal insufficiency

DM Warman, M Costanzo, +13 authors A Belgorosky
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Heterozygous missense mutations in steroidogenic factor 1 ( SF 1 / Ad 4 BP , NR 5 A 1 ) are associated with 46 , XY disorders of sex development with normal adrenal function

B Kohler, L Lin, +7 authors JC Achermann
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