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Organo Oficial de la Sociedad Mexicana de Urología

2021, Number 4

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Rev Mex Urol 2021; 81 (4)

Disorders of sexual development in 46,XX individuals: an update

Guerra M, Céspedes C, Forero C, Suárez-Oblando F, Rojas A

Language: English
References: 47
Page:
PDF size: 436.41 Kb.


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.


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