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Open Access Highly Accessed Case report

Female genital mutilation of a karyotypic male presenting as a female with delayed puberty

M Ellaithi123*, T Nilsson4, D Gisselsson4, A Elagib5, H Eltigani6 and I Fadl-Elmula78

Author Affiliations

1 Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan

2 International University of Africa, Faculty of Medicine and Health Sciences, Khartoum, Sudan

3 The Orchids Society for Congenitally Malformed Children. Khartoum, Sudan

4 Department of Clinical Genetics, Lund University, Lund, Sweden

5 Tropical Medical Research Institute, Khartoum, Sudan

6 Department of Anatomy, Faculty of Medicine, University of Khartoum, Khartoum, Sudan

7 Faculty of Medical Laboratory Sciences, Al Neelain University, Khartoum, Sudan

8 Al Neelain Medical Centre, Al Neelain University, Khartoum, Sudan

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BMC Women's Health 2006, 6:6  doi:10.1186/1472-6874-6-6

Published: 29 March 2006

Abstract

Background

Female genital mutilation (FGM) is commonly practiced mainly in a belt reaching from East to West Africa north of the equator. The practice is known across socio-economic classes and among different ethnic, religious, and cultural groups. Few studies have been appropriately designed to measure the health effects of FGM. However, the outcome of FGM on intersex individuals has never been discussed before.

Case presentation

The patient first presented as a female with delayed puberty. Hormonal analysis revealed a normal serum prolactin level of 215 Mu/L, a low FSH of 0.5 Mu/L, and a low LH of 1.1 Mu/L. Type IV FGM (Pharaonic circumcision) had been performed during childhood. Chromosomal analysis showed a 46, XY karyotype and ultrasonography verified a soft tissue structure in the position of the prostate.

Conclusion

FGM pose a threat to the diagnosis and management of children with abnormal genital development in the Sudan and similar societies.