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 pene-escrotal, unilateral cryptorchidism, urinary meatus stenosis and malformed scrotum were diagnosed together with vessel duplication.
Key words: Ambiguous genitalia, diphallia, hypospadias, cryptorchidism, chromosome translocation and chimera.
Copyright © 2021 Author(s) retain the copyright of this article.
This article is published under the terms of the Creative Commons Attribution License 4.0