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Revista mexicana de urología
On-line version ISSN 2007-4085Print version ISSN 0185-4542
Abstract
GUERRA, Mariana et al. Disorders of sexual development in 46,XX individuals: an update. Rev. mex. urol. [online]. 2021, vol.81, n.4, e06. Epub Apr 21, 2023. ISSN 2007-4085. https://doi.org/10.48193/rmu.v81i4.800.
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.
Keywords : 46,XX; disorders of sexual development-DDS; disorders of gonadal (ovarian) development; FISH; SRY; SOX9.