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Published in: Journal of Medical Case Reports 1/2023

Open Access 01-12-2023 | Hypospadia | Case report

Male refractory hypospadias with sexual reversal: a case report

Authors: Jianfeng Zhao, Gang Chen, Jun Chen, Le Qian

Published in: Journal of Medical Case Reports | Issue 1/2023

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Abstract

Background

Hypospadias is one of the most prevalent urogenital malformations in clinic. However, some hypospadias may have a more complex disorder of sex development. Usually, hypospadias in these patients is severe. Among them, the 46,XX male sex reversal syndrome is a rare disorder of sex development, and this may be the main reason for this type of hypospadias being difficult to repair.

Case presentation

We present a Han nationality 19-year-old male with failure of repeated repair of hypospadias. No sperm was found on semen analysis. Lingual mucosal graft was carried out for this patient. It still did not succeed after using lingual mucosal graft repair. Karyotype analysis of this patient confirmed 46,XX karyotype.

Conclusion

Hypospadias with 46,XX male sex reversal syndrome is hard to repair. Chromosome karyotype examination in patients with hypospadias is suggested. Genetic testing is recommended. In the future, further research is needed on the pathogenesis of disease and how to treat and prevent it.
Literature
1.
go back to reference Halaseh SA, Halaseh S, Ashour M. Hypospadias: a comprehensive review including its embryolog, etiology and surgical techniques. Cureus. 2022;14(7): e27544.PubMedPubMedCentral Halaseh SA, Halaseh S, Ashour M. Hypospadias: a comprehensive review including its embryolog, etiology and surgical techniques. Cureus. 2022;14(7): e27544.PubMedPubMedCentral
2.
go back to reference Ahmeti H, Kolgeci S, Arifi H, Jaha L. Clinical dilemmas and surgical treatment of penoscrotal, scrotal and perineal hypospadias. Bosn J Basic Med Sci. 2009;9:229–34.CrossRefPubMedPubMedCentral Ahmeti H, Kolgeci S, Arifi H, Jaha L. Clinical dilemmas and surgical treatment of penoscrotal, scrotal and perineal hypospadias. Bosn J Basic Med Sci. 2009;9:229–34.CrossRefPubMedPubMedCentral
4.
go back to reference Springer A, van den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. J Pediatr Urol. 2016;12(152):e1-7. Springer A, van den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. J Pediatr Urol. 2016;12(152):e1-7.
5.
go back to reference Shih EM, Graham JM Jr. Review of genetic and environmental factors leading to hypospadias. Eur J Med Genet. 2014;7:453–63.CrossRef Shih EM, Graham JM Jr. Review of genetic and environmental factors leading to hypospadias. Eur J Med Genet. 2014;7:453–63.CrossRef
6.
go back to reference van der Zanden LFM, van Rooij IALM, Feitz WFJ, Franke B, Knoers NVAM, Roeleveld N. Aetiology of hypospadias: a systematic review of genes and environment. Hum Reprod Update. 2012;18:260–83.CrossRefPubMed van der Zanden LFM, van Rooij IALM, Feitz WFJ, Franke B, Knoers NVAM, Roeleveld N. Aetiology of hypospadias: a systematic review of genes and environment. Hum Reprod Update. 2012;18:260–83.CrossRefPubMed
7.
go back to reference Wong YS, Tam YH, Pang KKY, Yau HC. Yau HC Incidence and diagnoses of disorders of sex development in proximal hypospadias. J Pediatr Surg. 2018;53:2498–501.CrossRefPubMed Wong YS, Tam YH, Pang KKY, Yau HC. Yau HC Incidence and diagnoses of disorders of sex development in proximal hypospadias. J Pediatr Surg. 2018;53:2498–501.CrossRefPubMed
8.
go back to reference Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M, et al. Human XX males with Y single-copy DNA fragments. Nature. 1984;307:172–3.CrossRefPubMed Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M, et al. Human XX males with Y single-copy DNA fragments. Nature. 1984;307:172–3.CrossRefPubMed
9.
go back to reference Aldaqadossi HA, Shaker H, Youssof H, Kotb Y, Eladawy M. Outcomes of staged lingual mucosal graft urethroplasty for redo hypospadias repair. J Pediatr Urol. 2019;15:519.e1-519.e7.CrossRefPubMed Aldaqadossi HA, Shaker H, Youssof H, Kotb Y, Eladawy M. Outcomes of staged lingual mucosal graft urethroplasty for redo hypospadias repair. J Pediatr Urol. 2019;15:519.e1-519.e7.CrossRefPubMed
10.
go back to reference Chapelle A, Hortling H, Niemi M, Wennstroem J. XX sex cromossomas in a human male. First Case Acta Med Scand. 1964;175:25–8.CrossRef Chapelle A, Hortling H, Niemi M, Wennstroem J. XX sex cromossomas in a human male. First Case Acta Med Scand. 1964;175:25–8.CrossRef
11.
go back to reference Mehmood KT, Rentea RM. Ambiguous genitalia and disorders of sexual differentiation. StatPearls Publishing. 2022;29. Mehmood KT, Rentea RM. Ambiguous genitalia and disorders of sexual differentiation. StatPearls Publishing. 2022;29.
12.
go back to reference Adrião M, Ferreira S, Silva RS, Garcia M, Dória S, Costa C, et al. 46, XX male disorder of sexual development. Clin Pediatr Endocrinol. 2020;29:43–5.CrossRefPubMedPubMedCentral Adrião M, Ferreira S, Silva RS, Garcia M, Dória S, Costa C, et al. 46, XX male disorder of sexual development. Clin Pediatr Endocrinol. 2020;29:43–5.CrossRefPubMedPubMedCentral
13.
go back to reference QiuYue W, Li N, Li WW, Li TF, Zhang C, Cui YX, et al. Clinical, molecular and cytogenetic analysis of 46,XX testicular disorder of sex development with SRY-positive. BMC Urol. 2014;28:70. QiuYue W, Li N, Li WW, Li TF, Zhang C, Cui YX, et al. Clinical, molecular and cytogenetic analysis of 46,XX testicular disorder of sex development with SRY-positive. BMC Urol. 2014;28:70.
14.
go back to reference Xia XY, Zhang C, Li TF, QiuYue W, Li N, Li WW, et al. A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46, XX testicular disorder of sex development: a case report and literature review. Mol Med Rep. 2015;12:5659–64.CrossRefPubMedPubMedCentral Xia XY, Zhang C, Li TF, QiuYue W, Li N, Li WW, et al. A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46, XX testicular disorder of sex development: a case report and literature review. Mol Med Rep. 2015;12:5659–64.CrossRefPubMedPubMedCentral
15.
go back to reference Ergun Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin SK, et al. Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature. J Clin Endocrinol Metab. 2005;18:739–48. Ergun Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin SK, et al. Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature. J Clin Endocrinol Metab. 2005;18:739–48.
16.
go back to reference Wei J, Liu C, Zhang M, Liu S, Junjie F, Lin P. Duplication of SOX3 in an SRY-negative 46, XX male with prostatic utricle: case report and literature review. BMC Med Genomics. 2022;5(15):188.CrossRef Wei J, Liu C, Zhang M, Liu S, Junjie F, Lin P. Duplication of SOX3 in an SRY-negative 46, XX male with prostatic utricle: case report and literature review. BMC Med Genomics. 2022;5(15):188.CrossRef
17.
go back to reference Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S. 46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma. Endocr Pract. 2011;17:95–8.CrossRefPubMed Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S. 46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma. Endocr Pract. 2011;17:95–8.CrossRefPubMed
18.
go back to reference Hughes IA, Houk C, Ahmed SF, Lee PA, Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006; 2:148–62. Hughes IA, Houk C, Ahmed SF, Lee PA, Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006; 2:148–62.
19.
go back to reference Baskin LS, Ebbers MB. Hypospadias: anatomy, etiology, and technique. J Pediatr Surg. 2006;41:463–72.CrossRefPubMed Baskin LS, Ebbers MB. Hypospadias: anatomy, etiology, and technique. J Pediatr Surg. 2006;41:463–72.CrossRefPubMed
20.
go back to reference Beyene RT, Derryberry SL Jr, Barbul A. The effect of comorbidities on wound healing. Surg Clin North Am. 2020;100(4):695–705.CrossRefPubMed Beyene RT, Derryberry SL Jr, Barbul A. The effect of comorbidities on wound healing. Surg Clin North Am. 2020;100(4):695–705.CrossRefPubMed
Metadata
Title
Male refractory hypospadias with sexual reversal: a case report
Authors
Jianfeng Zhao
Gang Chen
Jun Chen
Le Qian
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2023
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-023-04230-3

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