university website

A.B. Dessens (Arianne), M.B.C.M. Cools (Martine), A. Richter-Unruh, L.H.J. Looijenga (Leendert), J.A. Grootegoed (Anton) and S.L.S. Drop (Stenvert)

2010-12-01

Genetic defects of female sexual differentiation

Publication

Publication

This chapter provides an outline of what is known about ovarian and female development. Specifically, the question is addressed if there are any known genes which are specifically required for differentiation of the bipotential gonads to become ovaries. In addition, defects in female differentiation as a result of sex chromosomal mosaicism are discussed. Subsequently, various causes of maternal and fetal androgen excess syndromes are reviewed as well as agenesis syndromes of uterus and vagina forming a separate entity within the 46,XX disorders of sex development category. Finally, relevant points regarding the independent effects of genetic factors and androgens on brain and behavior are summarized.

Additional Metadata
Keywords AMH (anti-Müllerian hormone), Androgens, Aromatase deficiency, Bardel biedl syndrome (BBS), Cognition, Congenital adrenal hyperplasia (CAH), Disorders of sex development (DSD), Estrogens, Gender identity, Gender role behavior, Germ cell tumor, Glucocorticoid resistance (GRe), Gonadal dysgenesis, Gonadal hormones, Gonadal tumor risk, Gonadoblastoma, Inhibin B, Luteoma, Mayer-Rokitanski-Küster-Hauser syndrome (MRKH), McKusick-Kaufman syndrome (MKKS), Mosaicism, Müllerian agenesis/hypoplasia syndrome, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (MURCS), Ovarian development, Ovarian-determining genes, Sex chromosome mosaicism, Sex determination, Sexual functioning, Sexual orientation, Steroidogenesis
Persistent URL doi.org/10.1016/B978-008088783-8.00101-7, hdl.handle.net/1765/89205
Organisation Erasmus MC: University Medical Center Rotterdam
Citation
Dessens, A., Cools, M., Richter-Unruh, A., Looijenga, L., Grootegoed, A., & Drop, S. (2010). Genetic defects of female sexual differentiation. doi:10.1016/B978-008088783-8.00101-7


User Publication Person Organisation Collection
Close