Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings

Differences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an individual. Ambiguous genitalia may be a glaring ind...

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Main Authors: Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Boateng Nimako, Michael Amoah
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Endocrinology
Online Access:http://dx.doi.org/10.1155/2024/9987144
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author Serwah Bonsu Asafo-Agyei
Emmanuel Ameyaw
Boateng Nimako
Michael Amoah
author_facet Serwah Bonsu Asafo-Agyei
Emmanuel Ameyaw
Boateng Nimako
Michael Amoah
author_sort Serwah Bonsu Asafo-Agyei
collection DOAJ
description Differences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an individual. Ambiguous genitalia may be a glaring indicator of DSD, but multiple genital anomalies should also raise a suspicion of DSD. This is a case report of a 15-year-6-month-old boy who presented during infancy with multiple genital anomalies requiring surgery. The diagnosis of ovotesticular DSD was missed until later in adolescence when he presented with progressive bilateral breast enlargement. Work-up revealed a 46, XX karyotype and dysgenetic testes, but functional ovarian tissue. The patient wanted to consider switching to a female gender but was constrained by psychosocial factors. Maintenance of a masculine phenotype was done using testosterone injections due to the relatively high cost of testosterone patches. Conclusion. Multiple genital anomalies should raise the suspicion of DSD, and prompt referral to an endocrinologist should be done before urogenital surgery and gender assignment are carried out.
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series Case Reports in Endocrinology
spelling doaj-art-f450b34d9a744e1ebe4fd4fe1a882f6b2025-02-03T01:29:25ZengWileyCase Reports in Endocrinology2090-651X2024-01-01202410.1155/2024/9987144Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited SettingsSerwah Bonsu Asafo-Agyei0Emmanuel Ameyaw1Boateng Nimako2Michael Amoah3School of Medicine and DentistrySchool of Medicine and DentistryKomfo Anokye Teaching HospitalKomfo Anokye Teaching HospitalDifferences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an individual. Ambiguous genitalia may be a glaring indicator of DSD, but multiple genital anomalies should also raise a suspicion of DSD. This is a case report of a 15-year-6-month-old boy who presented during infancy with multiple genital anomalies requiring surgery. The diagnosis of ovotesticular DSD was missed until later in adolescence when he presented with progressive bilateral breast enlargement. Work-up revealed a 46, XX karyotype and dysgenetic testes, but functional ovarian tissue. The patient wanted to consider switching to a female gender but was constrained by psychosocial factors. Maintenance of a masculine phenotype was done using testosterone injections due to the relatively high cost of testosterone patches. Conclusion. Multiple genital anomalies should raise the suspicion of DSD, and prompt referral to an endocrinologist should be done before urogenital surgery and gender assignment are carried out.http://dx.doi.org/10.1155/2024/9987144
spellingShingle Serwah Bonsu Asafo-Agyei
Emmanuel Ameyaw
Boateng Nimako
Michael Amoah
Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings
Case Reports in Endocrinology
title Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings
title_full Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings
title_fullStr Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings
title_full_unstemmed Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings
title_short Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings
title_sort challenges in management of ovotesticular differences in sex development in resource limited settings
url http://dx.doi.org/10.1155/2024/9987144
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AT boatengnimako challengesinmanagementofovotesticulardifferencesinsexdevelopmentinresourcelimitedsettings
AT michaelamoah challengesinmanagementofovotesticulardifferencesinsexdevelopmentinresourcelimitedsettings