International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 131

Full Length Research Paper

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

Aparicio-Rodríguez J. M.1,9*, Cuellar-López F2, Hurtado-Hernández ML3, Barrientos-Pérez M4,  Reynoso de Mendoza S.5, Vargas-González R.6, Camacho-Gutiérrez S. F.2, Marroquin-Garcia I.3, Chatelain-Mercado S.7and Sierra-Pineda F.8
  1Department of Genetics,  Hospital para el Niño Poblano, México. 2Department of Urology and Pediatric Surgery,  Hospital Para el Niño Poblano, México. 3Department of Citogenétics,   Hospital Para el Niño Poblano, México. 4Department of Endocrinology,  Hospital Para el Niño Poblano, México. 5Department of Neonatology,  Hospital Para el Niño Poblano, México. 6Department of Pathology, Hospital Para el Niño Poblano, México. 7Department of Biotechnology, Universidad Autónoma Metropolitana, México. 8Department of Genetics, Hospital de la Mujer S.S.A. Puebla, Mexico 9Department of Estomatology, Benemérita Universidad Autónoma de Puebla México.
Email: [email protected]

  •  Accepted: 15 October 2010
  •  Published: 31 December 2010



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.