Human Genetics & Embryology

Moukouma C

Publications

• Case Report
  Disorders of Sex Development in an Infant (46, XX)-A Case Report and Review of Literature
  Author(s): Poaty H, Ondima I, Moyen E, Demba Diop JP, Moukouma C and Ndiaye RPoaty H, Ondima I, Moyen E, Demba Diop JP, Moukouma C and Ndiaye R
  
  Background: Disorders of sex development (DSD) are congenital conditions in where there is a disagreement between phenotypic sex and genotypic sex. They involve problems of management and beliefs in developing countries. We report here a ten months old Congolese infant with abnormal external genitalia and make a mini review on the normal embryonic development of genital tract and report the most common aetiologies’ of DSD. Patients and Observations: Visualization of internal genitalia was realized by genitography. Genetic sex was determined by karyotyping, fluorescent in situ hybridization (FISH) analysis and polymerase chain reaction of SRY gene. Results: Genitographic image showed the uterus and the vaginal cavity. Karyotype and FISH visualize two X chromosomes and absence of chromosome Y confirmed by negat.. Read More»
  DOI: 10.4172/2161-0436.1000143

  Abstract PDF