Socio-medical burden of managing a Nigerian child with 46XY male disorder of sex differentiation: A Case Report
Phenotypic expression of the male internal and external genitalia is due largely to the interplay between the proper differentiation of the bipotential gonad, the production of testosterone from the Leydig cells and the response of the undifferentiated external genitalia to Dihydrotestosterone. When any of the pathways involved in the mechanisms described above are distorted, it results in the 46 XY Disorder of Sex Differentiation (DSD).
The incidence of 46 XY DSD ranges from 20 to 41% among the cases of Disorder of Sex Differentiation (DSD) in Nigeria, though there is a paucity of data on this condition. This report describes an under-virilized genetically male child who presented with ambiguous genitalia in the neonatal period and was subsequently diagnosed as SRY positive 46 XY DSD with reduced testosterone synthesis. This report is necessitated by the need to create awareness and highlight the relevant medico-social challenges in the management of DSD in a resource-poor setting.
Warne G, Zajac JD. Disorders of sexual differentiation. Endocrinol Metab Clin North Am 1998; 27: 945-67.
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(1): 93-99.
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 Gyn 2019; 32(1): 21-26.
Ameyaw E, Asafo-Agyei SB, Hughes IA Zacharin M, Chanoine J. Incidence of disorders of sexual development in neonates in Ghana: a prospective study. Arch Dis Child 2019 Epub – 316986.
Walla R, Singla M, Vaiphel K, Kumar S, Bhansali A. Disorders of Sex development: a study of 194 cases. Endocr Connect 2018; 7(2): 364-371.
Berglund A, Johannsen TH, Stochholm K, Viuff MH, Fedder J, Main KM, Gracholt CH. Incidence, Prevalence, Diagnostic Delay and Clinical Presentation of Female 46, XY Disorders of Sex Development. J Endocrinol Metab 2016; 101(12): 4532-4540.
Wisniewski AB, Chernausek SD, Kropp BP. Disorders of Sex Development: A Practical Guide for Parents and Physicians. The John Hopkins University Press, Baltimore Md, USA, 2012.
Swyer syndrome. Genetic Home Reference 2015. Available at http://ghr.nlm.nih.gov/condition/swyer-syndrome. Accessed on 25th September 2019.
Hemmminki E, Grissler M, Toukomma H. Exposure to female hormone drugs during pregnancy: effect on malformations and cancer. Brit J Canc 1999; 80(7): 1092-1097.
Ozbey H, Etker S. Disorder of sexual development in a cultural context. Arab J Urol 2013; 11(1): 33-39.
Jini M, Sen S, Chacko J, Zachariah N, Raghupathy P, Mammen KE. Gender assignment in male pseudohermaphroditism: an Indian perspective. Pediatr Surg Int 1993; 8; 500-501.
Taha SA. Male pseudohermaphroditism. Factors determining the gender of rearing in Saudi Arabia. Urology 1994; 43: 370-374.
Okeniyi J, Ogunlesi T, Dedeke O, Oyelami O, Oyedeji G. Prune Belly Syndrome in a Nigerian Child. Int J Pediatr Neonatol 2004; 5(2). Available at www.ispub.com. Accessed on 29th September 2019.
Cools M, Nordenstrom A, Robeva R, Hall J, Westerveld P, Fluck C, et al. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nature Rev Endocrinol 2018; 14; 415-429.
Copyright (c) 2019 Annals of Health Research
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The articles and other materials published in the Annals of Health Research are protected by the Nigerian Copyright laws. The journal owns the copyright over every article, scientific and intellectual materials published in it. However, the journal grants all authors, users and researchers access to the materials published in the journal with the permission to copy, use and distribute the materials contained therein only for academic, scientific and non-commercial purposes.