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Case Reports
. 2023 May 22;2023(5):rjad272.
doi: 10.1093/jscr/rjad272. eCollection 2023 May.

A rare case of mixed gonadal dysgenesis in adulthood: diagnostic delay and unique outcomes

Ploywarong Rueangket  1 , Supreechaya Phansenee  1 , Nutthaporn Laoharojvongsa  2 , Worawat Boonyachan  1
Affiliations
Case Reports

A rare case of mixed gonadal dysgenesis in adulthood: diagnostic delay and unique outcomes

Ploywarong Rueangket et al. J Surg Case Rep. .

Abstract

Mixed gonadal dysgenesis (MGD) is a rare sex development disorder, diagnosed by mosaic karyotype of 45,X/46,XY (classical form) with the presence of Müllerian structures, unilateral testis and contralateral streak gonad. MGD expresses diverse phenotypes, from female phenotype with virilization or turner stigmata, to ambiguous genitalia or male phenotype. Early diagnosis is crucial for effective correction of height, sexual development and cancer prevention. The study reports on a case of a 25-year-old patient, reared as female, presenting a large abdominal mass later confirmed as a mixed germ cell tumor. Associated findings were primary amenorrhea, ambiguous genitalia, short statue, gender dysphoria and hyperlipidemia. The study is the first to report on hyperlipidemia in MGD.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
External genitalia with abnormalities: phallus 4 cm. in length, hypospadias and narrowing of vaginal orifice.
Figure 2
Figure 2
Operative and histological findings. (a) Macroscopic findings of right gonads (arrow) on right lateral pelvic side wall and (b) left gonadal tumor. A Müllerian structure-like, fallopian tube was evident (arrow). Histological examination of (c) atrophic testis and mixed germ cell tumor arising from streak gonad with (d) yolk sac tumor (e) and dysgerminoma. Although seminiferous tubules were identified in the testis, fibrous tissue was detected in the streak gonad.
Figure 3
Figure 3
Operative finding of dissected uterus with prepubertal-stage appearance (proportion of cervix equally to uterus) and right fallopian tube (arrow).
See this image and copyright information in PMC

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