Endocrine and Cytogenetic Profile of Variations in Genital Development: Series of 9 Cases at the Mali Hospital

Abstract

We carried out a retrospective and descriptive study in the Medicine and Endocrinology service of the Mali Hospital from January 2015 to December 2018. Nine cases of anomalies in sexual differentiation were referred for pubertal delay, growth retardation, gynecomastia, micropenis or infertility. Outcomes: The average age was 14 years; 5 patients were declared female at birth; 2 were married without children; 7 patients came from the region of Kayes; 8 patients consulted for pubertal delay; 1 patient presented with association of a blind vagina and 2 bilateral inguinal gonads. 3 of 4 patients declared male at birth had a micropenis; 2 patients had gynecomastia with a history of hypospadias. Ultrasound and biological data showed a clinical-hormonal picture of hypergonadotropic hypogonadism in 6 patients, 1 case of hypogonadotropic hypogonadism with hypercorticism and 2 cases with normal gonadotropic axis; two cases of azoospermia. Karyotypic analysis showed: 3 cases of SK, 2 cases of Klinefelter Syndrome, 2 cases of Androgen Insensitivity Syndrome and 2 cases of male 46 XX syndrome including one with sry negative. Conclusion: The precise diagnosis of anomalies in sexual differentiation remains complicated in Mali, due to the inadequacy of the technical platform. Diagnosis must be made at an early stage to allow normal growth, puberty and satisfactory fertility. Taking charge of the medical treatment possibly associated with plastic surgery could give good results.