Abstract
Abstract
 Disruption of the processes of sexual determination or sexual differentiation by any genetic or environmental factor may result in a disorder of sexual development (DSD) with discordance among chromosomal, gonadal, and anatomical sex.
 Materials and methods: In order to update concepts related to DSD with 46,XX karyotype without numeric or structural abnormalities, a search of information was carried out for the last 10 years in which three subcategories are described: Disorders of gonadal (ovarian) development, Disorders related to androgenic excess and other abnormalities (vaginal atresia, cloacal exstrophy, uterine abnormalities and labial adhesions).
 Conclusion: The great variability of phenotypical manifestations in this kind of DSD may create confusion in diagnostic approaches guided by clinical findings. This presentation variability, paired with a lack of knowledge of the pathophysiology, can contribute to delayed or non-conclusive diagnoses. For these reasons, deepening the knowledge of the causes and clinical manifestations of this class of clinical conditions will result in the well-being of the patient and his family.
Highlights
Disorders of sexual development (DSD) were defined in the Chicago Consensus Meeting, 2005, and published as the Chicago Consensus Statement, 2006, as “congenital conditions in which the development of chromosomal, gonadal, and anatomical sex is atypical”.(1)Mutations in regulatory genes controlling urogenital ridge development, bipotential gonad formation, and cell differentiation in testicular or ovarian tissue have been identified among molecular causes for DSD
This paper provides an updated of concepts about DSD with 46,XX karyotype, supplementing current knowledge of this condition
The DSD are conditions characterized by abnormality in gonadal, phenotypical, and anatomical sex development
Summary
Disorders of sexual development (DSD) were defined in the Chicago Consensus Meeting, 2005, and published as the Chicago Consensus Statement, 2006, as “congenital conditions in which the development of chromosomal, gonadal, and anatomical sex is atypical”.(1). During the sexual determination stage, the undifferentiated bipotential gonad starts responding to the stimulus produced by the increased expression in the gonadal ridges of several genes, including WT1, DAX1, SF- 1, LHX9, LIM1, PAX2, GATA4, EMX2, and WNT4 Those genes contribute at the onset of gonadal differentiation, whether the testis-specific pathway is activated or repressed. Disruption of the processes of sex determination or sexual differentiation by any genetic or environmental factor may result in a DSD with discordance among chromosomal, gonadal, and anatomical sex. Such discordance will have different expressions in the phenotype, including abnormalities in the internal genitalia (absence or abnormal characteristics) and/or external genitalia (insufficient or excessive virilization).(1,4,13).
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