Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

• Published in: African journal of paediatric surgery 2016-07, Vol.13 (3), p.145-149
• Main Authors: Mouafo Tambo, F, Dahoun, S, Kamadjou, C, Nwaha Makon, A, Fossi, G, Andze, O, Sosso, M, Mure, P
• Format: Article
• Language: English
• Subjects: Adolescent; Cameroon; Case Series; Child; Child, Preschool; Diagnosis; Epidemiology; Genetic disorders; Gonadal Dysgenesis, Mixed - diagnosis; Gonadal Dysgenesis, Mixed - surgery; Humans; Male; Management; mixed gonadal dysgenesis; Risk factors; Yaoundé
• ISSN: 0189-6725; 0974-5998; 0974-5998
• DOI: 10.4103/0189-6725.187822

Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome. It is a rare clinical entity with a worldwide incidence of 1.5/10,000 live births. Its epidemiology in Sub-Saharan Africa is not known. This study reports experience in the management of 3 cases at the Yaounde Gynecologic-Obstetric and Paediatric Hospital. From November 2009 to November 2014, 3 cases were successfully managed at our institution. Results: All patients presented with asymmetrical gonadal differentiation. On one side of the body, a poorly-developed testicular gonad and on the other side a gonadal streak. A persistent Mόllerian remnant was equally found in the 3 cases. Management of mixed gonadal dysgenesis should be done in tertiary health care centres. A multidisciplinary team approach is recommended.