A rare case report on ovotesticular disorders of sex development (DSD) 46XY variant

Swain, Sanjit Kumar; Pradhan, Lopamudra; Satpathy, Rabinarayan; Mahapatra, Purna Chandra

doi:10.5455/2320-1770.ijrcog20141263

Cited by 2 publications

(3 citation statements)

References 9 publications

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“…Evaluations should be done efficiently to expedite gender assignment while avoiding unnecessary costs. Close monitoring for potentially life-threatening complications like malignancies should be promptly recognized and treated and necessary medical, surgical, and psychological interventions should be carried out seamlessly [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

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

Asafo-Agyei,

Ameyaw,

Nimako

et al. 2024

Case Reports in Endocrinology

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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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Section: Discussionmentioning

confidence: 99%

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

Asafo-Agyei,

Ameyaw,

Nimako

et al. 2024

Case Reports in Endocrinology

View full text Add to dashboard Cite

show abstract

“…In ovotesticular DSD, both Mullerian and Wolffian duct derivatives are present in the same individual and the genitalia are of ambiguous nature ( Swain et al, 2014 ). A variety of phenotypes is seen of both external and internal genitalia.…”

Section: Discussionmentioning

confidence: 99%

“…A variety of phenotypes is seen of both external and internal genitalia. Most of these patients have a well-formed uterus present ( SwainS et al, 2014 ). The gonads may be ovotestis or a combination of ovary on one side and testis on the other.…”

Section: Discussionmentioning

confidence: 99%