DOI: 10.36347/sjmcr.2024.v12i04.028

Pages: 491-506

Introduction: Abnormalities of sexual differentiation are conditions due to various congenital or hormonal etiologies. The aim of our study was to describe the clinical aspects of sexual differentiation abnormalities in the department of medicine and endocrinology. Methodology: Our study was retro-prospective and descriptive ranging from September 2011 to July 2021 (i.e. 10 years), carried out in the Medicine and Endocrinology department of the Mali Hospital. Results: Ten patients out of 8213 consultants were collected, representing a hospital frequency of 0.12%. Six (6) of them were of female phenotype, and 2 of male phenotype. The average age was 21.71 years with extremes ranging from 17 days to 46 years. Clinically, patients with a female phenotype presented an anomaly of the external genitalia (5/10), axillary and pubic hypopilosity (6/10), delayed puberty (5/10), primary amenorrhea (5/10), and the presence of a bilateral inguinal mass (2/10). For patients with a male phenotype (2/10); bilateral gynecomastia (2/10), macroskelia (1/10) with wingspan of 197cm, axillary and pubic hypopilosity (1/10), an anomaly of the external genitalia (2/10). Conclusion: anomalies of sexual differentiation, although relatively rare, exist in Mali and throughout the world.