Human Genetics & Embryology

ISSN: 2161-0436

Open Access

Disorders of Sex Development in an Infant (46, XX)-A Case Report and Review of Literature


Poaty H, Ondima I, Moyen N, 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 negative SRY PCR amplification.

Conclusion: We concluded that this infant is of ten months old is a 46, XX-DSD male external genitalia with SRY-negative.


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