Disorders of sexual development in genetic pediatrics: Three different ambiguous genitalia cases report from Hospital Para el Nino Poblano, Mexico

Abstract


Aparicio-Rodríguez J. M.,*, Cuellar-López F, Hurtado-Hernández ML, Barrientos-PérezM, Reynoso de Mendoza S., Vargas-GonzálezR., Camacho-Gutiérrez S.

Five pediatric patients with three different disorders of sexual development are reported in this study; the first three male patients (16 years, 4 years and 2 months old, respectively) were diagnosed as having diphallia. These 3 patients had real diphallia, well developed penises, urinarious meatus, and both testicles and one of the case, vessel duplication was reported by urology. All the patients have normal cytogenetic analysis, 46XY. The fourth patient was 2 years old, with hyperplasic clitoris, hyperpigmented tissue similar to labia major (large lips) and internal female organs identified as vagina, uterus and both ovaries. A chimera with two different cells lines [46,XX (48%) and 46,XY (52%)] by cytogenetic studies was reported. And the last child was 2 years 8 months old patient with chromosome translocation, between chromosome Y and 7 chromosomes t(7;Y). Hypospadias peneescrotal, unilateral cryptorchidism, urinary meatus stenosis and malformed scrotum were diagnosed together with vessel duplication.

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