Genetic defects of female sexual differentiation

A. B. Dessens; M. B.C.M. Cools; A. Richter-Unruh; L. H.J. Looijenga; J. A. Grootegoed; S. L.S. Drop

doi:10.1016/B978-008088783-8.00101-7

Genetic defects of female sexual differentiation

A. B. Dessens
, M. B.C.M. Cools
, A. Richter-Unruh
, L. H.J. Looijenga
, J. A. Grootegoed
, S. L.S. Drop

Onderzoeksoutput: Hoofdstuk in Boek/Rapport/Congresprocedure › Hoofdstuk › peer review

2 Citaten (Scopus)

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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.

Originele taal-2	Engels
Titel	Hormones, Brain and Behavior Online
Uitgeverij	Elsevier Inc.
Pagina's	3207-3238
Aantal pagina's	32
ISBN van geprinte versie	9780080887838
DOI's	https://doi.org/10.1016/B978-008088783-8.00101-7
Status	Gepubliceerd - 2009
Extern gepubliceerd	Ja

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10.1016/B978-008088783-8.00101-7

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title = "Genetic defects of female sexual differentiation",

abstract = "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.",

keywords = "AMH (anti-M{\"u}llerian 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-K{\"u}ster-Hauser syndrome (MRKH), McKusick-Kaufman syndrome (MKKS), Mosaicism, M{\"u}llerian agenesis/hypoplasia syndrome, M{\"u}llerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (MURCS), Ovarian development, Ovarian-determining genes, Sex chromosome mosaicism, Sex determination, Sexual functioning, Sexual orientation, Steroidogenesis",

author = "Dessens, \{A. B.\} and Cools, \{M. B.C.M.\} and A. Richter-Unruh and Looijenga, \{L. H.J.\} and Grootegoed, \{J. A.\} and Drop, \{S. L.S.\}",

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doi = "10.1016/B978-008088783-8.00101-7",

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AU - Dessens, A. B.

AU - Cools, M. B.C.M.

AU - Richter-Unruh, A.

AU - Looijenga, L. H.J.

AU - Grootegoed, J. A.

AU - Drop, S. L.S.

PY - 2009

Y1 - 2009

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AB - 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.

KW - AMH (anti-Müllerian hormone)

KW - Androgens

KW - Aromatase deficiency

KW - Bardel biedl syndrome (BBS)

KW - Cognition

KW - Congenital adrenal hyperplasia (CAH)

KW - Disorders of sex development (DSD)

KW - Estrogens

KW - Gender identity

KW - Gender role behavior

KW - Germ cell tumor

KW - Glucocorticoid resistance (GRe)

KW - Gonadal dysgenesis

KW - Gonadal hormones

KW - Gonadal tumor risk

KW - Gonadoblastoma

KW - Inhibin B

KW - Luteoma

KW - Mayer-Rokitanski-Küster-Hauser syndrome (MRKH)

KW - McKusick-Kaufman syndrome (MKKS)

KW - Mosaicism

KW - Müllerian agenesis/hypoplasia syndrome

KW - Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (MURCS)

KW - Ovarian development

KW - Ovarian-determining genes

KW - Sex chromosome mosaicism

KW - Sex determination

KW - Sexual functioning

KW - Sexual orientation

KW - Steroidogenesis

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DO - 10.1016/B978-008088783-8.00101-7

M3 - Chapter

AN - SCOPUS:84884738473

SN - 9780080887838

SP - 3207

EP - 3238

BT - Hormones, Brain and Behavior Online

PB - Elsevier Inc.

ER -

Genetic defects of female sexual differentiation

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