Disorders of sex development: Genetic characterization of a patient cohort

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Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development

Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY ...

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genetic screening of iranian patients with 46,xy disorders of sex development

background: disorders of sex development (dsds) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,xy ...

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Disorders of Sex Development

The birth of a new baby is one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl?" The newborn infant with ambiguous external genitalia often comes as a surprise for the doctors as well as the parents and is sometimes described as an endocrine emergency situation presenting a problem of sex assignment. The nomenclature such as 'intersex', 'hermaph...

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a Canakkale Onsekiz Mart University, Medical Faculty, Department of Urology, Canakkale, Turkey b Inönü University, Medical Faculty, Department of Urology, Malatya, Turkey c Canakkale Onsekiz Mart University, Medical Faculty, Department of Children Disease, Canakkale, Turkey d Canakkale Onsekiz Mart University, Medical Faculty, Department of Obstetric and Gynecology, Canakkale, Turkey e Canakkal...

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ژورنال

عنوان ژورنال: Molecular Medicine Reports

سال: 2019

ISSN: 1791-2997,1791-3004

DOI: 10.3892/mmr.2019.10819