Disorders of sexual development : current status and progress in the diagnostic approach

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Data
2020-01-07Autore/i aziendale
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Tipo
Artículo de revista
ISSN
1661-7649 / 1661-7657 (Electrónico)
Pagine
169-178
Tipo di oggetto
Artículo de revisión
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Disorders of sexual development (DSD) are conditions with
an atypical chromosomal, gonadal or phenotypic sex, which
leads to differences in the development of the urogenital
tract and different clinical phenotypes. Some genes have
been implicated in the sex development during gonadal and
functional differentiation where the maintenance of the somatic sex of the gonad as either male or female is achieved
by suppression of the alternate route. The diagnosis of DSD
requires a structured approach, involving a multidisciplinary
team and different molecular techniques. We discuss the
dimorphic genes and the specific pathways involved in gonadal differentiation, as well as new techniques for genetic
analysis and their diagnostic value including epigenetic
mechanisms, expanding the evidence in the diagnostic approach of individuals with DSD to increase knowledge of the
etiology.
Keywords
Genetic pathwayGónada bipotencial
Sex differences
Disorders of sexual development
Differential development
Link alla risorsa
https://www.karger.com/Article/FullText/499274Editoriale
Current Urology; Volumen 13 Número 4 (2020)
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