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.
References
[1]
Vorona, E., Zitzmann, M., Gromoll, J., et al. (2007) Clinical, Endocrinological, and Epigenetic Features of the 46, XX Male Syndrome, Compared with 47, XXY Klinefelter Patients. The Journal of Clinical Endocrinology et Métabolism, 92, 3458-3465. https://doi.org/10.1210/jc.2007-0447
[2]
Hutcheson, J., Sneyder, H.M., et al. (2019) Ambiguous Genital and Intersexuality; Com/PED/Topic 1492; HTM (15/10/2019).
[3]
Akbas, E., Altintas, Z.M., et al. (2015) Karyotype and Variables in Turner Syndrome: A Case. International Journal of Scientific Study, 3, 171-175.
[4]
Assie, G., Rosenberg, D., Clauser, E., et al. (2004) Biochimie des hormones et leurs mecanismes d’action: Recepteurs membranaires. EMC—Endocrinologie-Nutrition, Article 10-001-C-10, 1-22. https://doi.org/10.1016/S1155-1941(04)25922-4
[5]
Bakalov, V.K., Cheng, C., Zhou, J., et al. (2009) X-Chromosome Gene Dosage and the Risk of Diabetes in Turner Syndrome. The Journal of Clinical Endocrinology & Metabolism, 94, 3289-3296. https://doi.org/10.1210/jc.2009-0384
[6]
lsheikh, M., Dunger, D.B., et al. (2002) Turner’s Syndrome in Adulthood. Endocrine Reviews, 23, 120-140. https://doi.org/10.1210/edrv.23.1.0457
[7]
Bojesen, A., Juul, S., Gravholt, C.H., et al. (2003) Prenatal and Postnatal Prevalence of Klinefelter Syndrome: A National Registry Study. The Journal of Clinical Endocrinology & Metabolism, 88, 622-626. https://doi.org/10.1210/jc.2002-021491
[8]
Lanfranco, F., Kamischke, A., et al. (2004) Klinefelter’s Syndrome. The Lancet, 364, 273. https://doi.org/10.1016/S0140-6736(04)16678-6
[9]
Véronique, K., et al. (2014) Le syndrome de klinefelter à l’age pédiatrique et l’age adulte. MCED, 68, 48-53.
[10]
Chakhtoura, Z. and Touraine, P. (2013) Fertilite chez les femmes ayant un syndrome de Turner. La Presse Médicale, 42, 1508-1512. https://doi.org/10.1016/j.lpm.2013.03.016
[11]
Abusheikha, N., Lass, A., et al. (2001) XX Males without SRY Gene and with Infertility: Case Report. Human Reproduction, 16, 717-718. https://doi.org/10.1093/humrep/16.4.717
[12]
Falth, Y., Dorsey, et al. (2009) 46xx, sry-Négative à propos de 2 cas. Pédiatrie Urology, 73, 529-531. https://doi.org/10.1016/j.urology.2008.09.050
[13]
Jimenex, A.L., Kofman-Alfaro, S., et al. (2000) Partially Deleted SRY Gene Confined to Testicular Tissue in a 46, XX True Hermaphrodite without SRY in Leukocytic DNA. American Journal of Medical Genetics, 93, 417-420. https://doi.org/10.1002/1096-8628(20000828)93:5<417::AID-AJMG13>3.0.CO;2-S
[14]
Jiang, T., Hou, C.C., She, Z.Y. and Yang, W.X. (2013) The SOX Gene Family: Function and Regulation in Testis Determination and Male Fertility Maintenance. Molecular Biology Reports, 40, 2187-2194. https://doi.org/10.1007/s11033-012-2279-3
[15]
Zhao, L. and Koopman, P. (2012) SRY Protein Function in Sex Determination: Thinking outside the Box. Chromosome Research, 20, 153-162. https://doi.org/10.1007/s10577-011-9256-x
[16]
Wu, Q.-Y., et al. (2014) Clinical, Molecular and Cytogenetic Analysis of 46, XX Testicular Disorder of Sex Development with SRY-Positive. BMC Urology, 14, 70. https://doi.org/10.1186/1471-2490-14-70
[17]
Ergun-Longmire, B., Vinci, G., et al. (2005) Clinical, Hormonal and Cytogenetic Evaluation of 46, XX Males and Review of the Literature. The Journal of Clinical Endocrinology & Metabolism, 18, 739-748. https://doi.org/10.1515/JPEM.2005.18.8.739
[18]
Mongan, N.P., Tadokoro-Cuccaro, R., Bunch, T. and Hughes, I.A. (2015) Androgen Insensitivity Syndrome. Best Practice & Research Clinical Endocrinology & Metabolism, 29, 569-580. https://doi.org/10.1016/j.beem.2015.04.005
[19]
Françoise, P., Pascal, P., et al. (2016) Syndrome d’Insensibilité aux androgènes. Correspondances en Métabolismes Hormones Diabètes et Nutrition, 20, 28-46.
[20]
Zhou, X. (2010) Roles of Androgen Receptor in Male and Female Reproduction: Lessons from Global and Cell-Specific Androgen Receptor Knockout (ARKO) Mice. Journal of Andrology, 31, 235-243. https://doi.org/10.2164/jandrol.109.009266
Kohler, B., Lumbroso, S., Leger, J., et al. (2005) Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling. The Journal of Clinical Endocrinology & Metabolism, 90, 106-111. https://doi.org/10.1210/jc.2004-0462
[23]
Gaspari, L., Paris, F., Philibert, P., et al. (2011) “Idiopathic” Partial Androgen Insensitivity Syndrome in 28 Newborn and Infant Males: Impact of Prenatal Exposure to Environmental Endocrine Disruptor Chemicals? European Journal of Endocrinology, 165, 579-587. https://doi.org/10.1530/EJE-11-0580
[24]
Gaspari, L., Sampaio, D.R., Paris, F., et al. (2012) High Prevalence of Micropenis in 2710 Male Newborns from an Intensive-Use Pesticide Area of Northeastern Brazil. International Journal of Andrology, 35, 253-264. https://doi.org/10.1111/j.1365-2605.2011.01241.x
