Abstract
Objectives
To review the published literature regarding disorders of sex development (DSD) in Africa which will highlight clinical characteristics, and challenges of evaluation and treatment of DSD.
Content
We performed systematic review of articles published on DSD in Africa between January 2001 and December 2020.
Summary
Eighteen studies involving 1980 patients from nine countries were analyzed. Overall mean age at presentation was 9.3 years (range 1 day–33 years) with 52.5 and 45.1% reared as females and males, respectively, prior to presentation. Following evaluation however, 64% were assigned female sex, 32.1% were assigned male sex, and 21.8% of the cases required sex reassignment. Only 7 (38.9%) of the publications reported medical treatment of DSD, 4 (22.2%) reported on psychosocial management and 5 (27.8%) documented multidisciplinary team management. Barring regional variations, the documented challenges of management include delayed presentation, loss to follow up, financial challenges, and lack of facilities for care of DSD. Comparison of the cases managed in the last decade (2011–2020) with those managed in the earlier decade (2001–2010) showed a trend towards earlier presentation and reduced rate of sex reassignment in the last decade. However, the challenges persisted.
Outlook
Barring regional differences, a high proportion of DSD in Africa may have delayed presentation with inappropriate sex of rearing, inadequate evaluation and need for sex reassignment. Specific efforts to improve time to diagnosis, patient evaluation, improvement of healthcare funding, and collaboration with more developed countries may improve the care of patients with DSD in Africa.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Not applicable.
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Ethical approval: Not applicable.
References
1. Fisher, AD, Ristori, J, Fanni, E, Castellini, G, Forti, G, Maggi, M. Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma. J Endocrinol Invest 2016;39:1207–24. https://doi.org/10.1007/s40618-016-0482-0.Search in Google Scholar PubMed
2. Warne, GL, Raza, J. Disorders of sex development (DSDs), their presentation and management in different cultures. Endocr Metab Disord 2008;9:227–36. https://doi.org/10.1007/s11154-008-9084-2.Search in Google Scholar PubMed
3. Houk, CP, Hughes, LA, Ahmed, SF, Lee, PA. Summary of consensus statement on intersex disorders and their management. Pediatrics 2016;118:753–7. https://doi.org/10.1542/peds.2006-0737.Search in Google Scholar PubMed
4. Kearsey, I, Hutson, JM. Disorders of sex development (DSD): not only babies with ambiguous genitalia. A practical guide for surgeons. Pediatr Surg Int 2017;3:355–61. https://doi.org/10.1007/s00383-016-4036-5.Search in Google Scholar PubMed
5. García-Acero, M, Moreno, O, Suarez, F, Rojas, A. Disorders of sexual development: current status and progress in the diagnostic approach. Curr Urol 2020;13:169–78. https://doi.org/10.1159/000499274.Search in Google Scholar PubMed PubMed Central
6. Witchel, SF. Disorders of sex development. Best Pract Res Clin Obstet Gynaecol 2018;48:90–102. https://doi.org/10.1016/j.bpobgyn.2017.11.005.Search in Google Scholar PubMed PubMed Central
7. Hiort, O, Birnbaum, W, Marshall, L, Wünsch, L, Werner, R, Schröder, T, et al.. Management of disorders of sex development. Nat Rev Endocrinol 2014;10:520–9. https://doi.org/10.1038/nrendo.2014.108.Search in Google Scholar PubMed
8. Houk, CP, Lee, PA. Update on disorders of sex development. Curr Opin Endocrinol Diabetes Obes 2012;19:28–32. https://doi.org/10.1097/MED.0b013e32834edacb.Search in Google Scholar PubMed
9. Ekenze, SO, Nwangwu, EI, Amah, CC, Agugua-Obianyo, NE, Onuh, AC, Ajuzieogu, OV. Disorders of sex development in a developing country: perspectives and outcome of surgical management of 39 cases. Pediatr Surg Int 2015;31:93–9. https://doi.org/10.1007/s00383-014-3628-1.Search in Google Scholar PubMed
10. Abdullah, MA, Saeed, U, Abass, A, Lubna, K, Weam, A, Ali, AS, et al.. Disorders of sex development among Sudanese children: 5-year experience of a pediatric endocrinology clinic. J Pediatr Endocrinol Metab 2012;25:1065–72. https://doi.org/10.1515/jpem-2011-0467.Search in Google Scholar PubMed
11. Gnassingbé, K, Da Silva-Anoma, S, Mihleudo-Agbolan, K, Anoukoum, T, Bignandi, K, Akakpo-Numado, KG, et al.. The disorders of sex development and the problems of their management in Togo. Afr J Paediatr Surg 2013;10:202–3. https://doi.org/10.4103/0189-6725.115061.Search in Google Scholar PubMed
12. Liberati, A, Altman, DG, Tetzlaff, J, Mulrow, C, Gøtzsche, PC, Ioannidis, JPA, et al.. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration. BMJ 2009;339:b2700. https://doi.org/10.1136/bmj.b2700.Search in Google Scholar PubMed PubMed Central
13. Nasir, AA, Abdur-Rahman, LO, Adesiyun, OO, Bamigbola, KT, Adegboye, MB, Raji, HO, et al.. Analysis of presentations and outcomes of care of children with disorders of sexual development in a Nigerian Hospital. J Pediatr Adolesc Gynecol 2019;32:21–6. https://doi.org/10.1016/j.jpag.2018.08.005.Search in Google Scholar PubMed
14. Marei, MM, Fares, AE, Musa, N, Abdelsattar, AH, Sharaf, A, Hassan, MM, et al.. Timing and outcome concerns regarding feminizing genitoplasty from the perspective of egyptian families of girls with virilized external genitalia. Horm Res Paediatr 2016;85:49–57. https://doi.org/10.1159/000442200.Search in Google Scholar PubMed
15. Ahmed, SM, Fadl-Elmula, I. Clinical, cytogenetic, and molecular characterization of disorders of sexual development (DSD) in Sudan. Genom Appl Biol 2015;6:1–6. https://doi.org/10.5376/gab.2015.06.0008.Search in Google Scholar
16. Diakité, ML, Berthé, JG, Timbely, HA, Diallo, M, Maiga, M, Diakité, A, et al.. Issues inherent to the management of disorders of sex development in Point G Hospital. Prog Urol 2013;23:66–72. https://doi.org/10.1016/j.purol.2012.10.008.Search in Google Scholar PubMed
17. Ismail, SI, Mazen, IA. A study of gender outcome of Egyptian patients with 46, XY disorder of sex development. Sex Dev 2010;4:285–91. https://doi.org/10.1159/000317120.Search in Google Scholar PubMed
18. Osifo, DO, Amusan, TI. Female children with ambiguous genitalia in awareness-Poor Subregion. Afr J Reprod Health 2009;13:129–36. https://doi.org/10.1007/s10029-008-0446-1.Search in Google Scholar PubMed
19. Sap, SNU, Betoko, RM, Etoga, ME, Mure, PY, Morel, Y, Dahoun, S, et al.. Observational study of disorders of sex development in Yaounde, Cameroon. J Pediatr Endocrinol Metab 2020;33:417–23. https://doi.org/10.1515/jpem-2019-0458.Search in Google Scholar PubMed
20. Amolo, P, Laigong, P, Omar, A, Drop, S. Etiology and clinical presentation of disorders of sex development in Kenyan children and adolescents. Int J Endocrinol 2019;2985347. https://doi.org/10.1155/2019/2985347.Search in Google Scholar PubMed PubMed Central
21. Ganie, Y, Aldous, C, Balakrishna, Y, Wiersma, R. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. S Afr Med J 2017;108:132–7. https://doi.org/10.7196/SAMJ.2017.v108i2.12579.Search in Google Scholar PubMed
22. Kihiko, KD, Njiru, J, Hamdun, S, Lessan, J, Kyambi, J, Osawa, F, et al.. Disorders of sexual differentiation as seen at Kenyatta national hospital. East Afr Med J 2016;93:10–4.Search in Google Scholar
23. Shawky, RM, Nour El-Din, SM. Profile of disorders of sexual differentiation in the Northeast region of Cairo, Egypt. Egyptian J Med Human Genetics 2012;13:197–205. https://doi.org/10.1016/j.ejmhg.2012.03.003.Search in Google Scholar
24. Sowande, OA, Adejuyigbe, O. Management of ambiguous genitalia in ile ife, Nigeria: challenges and outcome. Afr J Paediatr Surg 2009;6:14–8. https://doi.org/10.4103/0189-6725.48569.Search in Google Scholar PubMed
25. Wiersma, R. True hermaphroditism in Southern Africa: the clinical picture. Pediatr Surg Int 2004;20:363–8. https://doi.org/10.1007/s00383-004-1200-0.Search in Google Scholar PubMed
26. Teklu, S, Schneider, J, Terefework, Z, Shimeles, B, Abraham, S, Bonsa, E. Three siblings with androgen insensitivity syndrome. Ethiop Med J 2016;54:229–36.Search in Google Scholar
27. Nthumba, PM, Carter, LLJr, Poenaru, D. Ambiguous genitalia in rural Africa and the complexities of management: which way forward? East Cent Afr J Surg 2008;13:51–9.Search in Google Scholar
28. Warne, GL. Long-term outcome of disorders of sex development. Sex Dev 2008;2:268–77. https://doi.org/10.1159/000152043.Search in Google Scholar PubMed
29. Rivilla, LF. Sex assignment in West Africa: a challenge for a pediatric surgeon—culture matters. Am J Trop Med Hyg 2020;103:552–3. https://doi.org/10.4269/ajtmh.20-0207.Search in Google Scholar PubMed PubMed Central
30. Tambiah, SJ. Bridewealth and dowry revisited: the position of women in Sub-Saharan Africa and North India. Curr Anthropol 1989;30:413–35. https://doi.org/10.1086/203761.Search in Google Scholar
31. Mazen, IA. Clinical management of gender in Egypt: intersexuality and transsexualism. Arch Sex Behav 2017;46:369–72. https://doi.org/10.1007/s10508-016-0842-z.Search in Google Scholar PubMed
32. Zainuddin, AA, Grover, SR, Shamsuddin, K, Mahdy, ZA. Research on quality of life in female patients with congenital adrenal hyperplasia and issues in developing nations. J Pediatr Adolesc Gynecol 2013;26:296–304. https://doi.org/10.1016/j.jpag.2012.08.004.Search in Google Scholar PubMed
33. Gerber, JA, Balasubramanian, A, Jorgez, CJ, Shukla, MA, Jacob, JS, Zhu, H, et al.. Do pediatricians routinely perform genitourinary examinations during well-child visits? A review from a large tertiary pediatric hospital. J Pediatr Urol 2019;15:374.e1–5. https://doi.org/10.1016/j.jpurol.2019.05.007.Search in Google Scholar PubMed
34. Nokoffa, NJ, Palmerb, B, Mullinsd, AJ, Astonc, CE, Austine, P, Baskinf, L, et al.. Prospective assessment of cosmesis before and after genital surgery. J Pediatr Urol 2017;13:28.e1–6. https://doi.org/10.1016/j.jpurol.2016.08.017.Search in Google Scholar PubMed PubMed Central
35. Ocal, G, Berberoğlu, M, Siklar, Z, Bilir, P, Uslu, R, Yağmurlu, A, et al.. Disorders of sexual development: an overview of 18 years experience in the pediatric Endocrinology Department of Ankara University. J Pediatr Endocrinol Metab 2010;23:1123–32. https://doi.org/10.1515/jpem.2010.177.Search in Google Scholar PubMed
36. Ahmed, SF, Cheng, A, Dovey, L, Hawkins, JR, Martin, H, Rowland, J, et al.. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 2000;85:658–65. https://doi.org/10.1210/jcem.85.2.6337.Search in Google Scholar PubMed
37. Morel, Y, Rey, R, Teinturier, C, Nicolino, M, Michel-Calemard, L, Mowszowicz, I, et al.. Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 2002;161:49–59. https://doi.org/10.1007/s00431-001-0854-z.Search in Google Scholar PubMed
38. Ekenze, SO, Chikani, UN, Ezomike, UO, Okafor, DC. Outcome of feminizing genital reconstruction in female sex assigned disorder of sex development in a low-income country. J Pediatr Urol 2019;15:244–50. https://doi.org/10.1016/j.jpurol.2019.02.021.Search in Google Scholar PubMed
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