Abstract

PULIDO¹, Narviz et al. Disorders of sexual differentiation in patiens from the capital and west Center Regions of Venezuela. Comunidad y Salud [online]. 2015, vol.13, n.2, pp.33-42. ISSN 1690-3293.

Disorders of sexual differentiation (DSD) are pathologies characterized by an atypical development of chromosomal (XX, XY) gonadal (testis, ovary) or phenotypical sex. The objective of this work was to inform the presentation forms of SDS in patients from the Capital and West Center regions of Venezuela. Seventeen patients were included and the pedigrees, clinical evaluation, hormonal studies, cytogenetic, imaging and identification of SRY gene markers and Y chromosome microsatellites were made. Depending on the clinical evaluation and data from examinations carried out, the following diagnoses were made: a)Twelve patients correspond to DSD 46, XX, of which seven patients have DSD by androgen excess, a case with sex reversal a ovotesticular DSD, a case with malformation syndrome, one with gonadal dysgenesis and one hypogonadism; b) Four patients presented DSD 46, XY (a patient with Smith-Lemli-Opitz syndrome II, one malformation syndrome and two cases with hypogonadism) c) A case of ADSs by chromosomal abnormality 46,XXY (Klinefelter syndrome). In relation to age of first consultation, the majority (47.1%) was performed in children under 5 years, referred by sexual ambiguity with need to address sex identification. In puberty, the patients consult due to alterations in secondary sexual characteristics and amenorrhea in teenagers, in adulthood due to infertility. The results helped to make a better genetic counseling and to improve the quality of life of patients and their families.

Keywords : Disorders of sexual differentiation; genetic counseling; Y chromosome markers.

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