Variants of sex development and genital malformations in girls
Oppelt P, Holterhus PM (2021)
Publication Type: Journal article
Publication year: 2021
Journal
DOI: 10.1007/s00129-021-04870-w
Abstract
Congenital deviations from the normal male and female differentiation of the gonads as well as internal and external genitalia are summarized as variants of sex development. They are characterized by a lack of correspondence between the chromosomal sex, the gonadal sex and the phenotypical sex. Disorders of sex development represent a very heterogeneous and rare group of diagnoses. The causes are mostly chromosomal aberrations or autosomal dominant, autosomal recessive and X-chromosomal recessive gene mutations. In addition, other associated malformations are found in approximately one third of the patients. Due to the wide variety of variants and courses, multidisciplinary holistically oriented competence centers for disorders of sex development play a leading role in the coordination of diagnostic, advisory and therapeutic measures.
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Germany (DE)How to cite
APA:
Oppelt, P., & Holterhus, P.-M. (2021). Variants of sex development and genital malformations in girls. Gynäkologe. https://doi.org/10.1007/s00129-021-04870-w
MLA:
Oppelt, Patricia, and Paul-Martin Holterhus. "Variants of sex development and genital malformations in girls." Gynäkologe (2021).
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