2020
DOI: 10.1111/cen.14389
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SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

Abstract: Objective SRY‐negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long‐term outcomes of these patients. Particularly, early blockade of the gonadotropic axis in patients raised in the female gender to minimize postnatal androgenization has never been reported. Desi… Show more

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Cited by 14 publications
(13 citation statements)
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“…The histological hallmark of an ovotestis is the combined presence of ovarian and testicular differentiation in a single gonad [28]. The testicular and ovarian fractions are mostly organized in an end-to-end fashion, and sometimes separated by a transitional zone, or as an ovarian cap surrounding testis tubules, although more mixed patterns have been observed in the South African population [29][30][31], possibly representing different etiologies. FOXL2 and SOX9 immunopositive staining confirms granulosa and Sertoli cell differentiation, respectively [28,32].…”
Section: Histological Features and Pitfalls Of Ovotesticular Dsdmentioning
confidence: 99%
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“…The histological hallmark of an ovotestis is the combined presence of ovarian and testicular differentiation in a single gonad [28]. The testicular and ovarian fractions are mostly organized in an end-to-end fashion, and sometimes separated by a transitional zone, or as an ovarian cap surrounding testis tubules, although more mixed patterns have been observed in the South African population [29][30][31], possibly representing different etiologies. FOXL2 and SOX9 immunopositive staining confirms granulosa and Sertoli cell differentiation, respectively [28,32].…”
Section: Histological Features and Pitfalls Of Ovotesticular Dsdmentioning
confidence: 99%
“…Observational data, based on a meta-analysis of historical series, have suggested a risk of 2.6% [35]. This is likely an overestimation as in more recent series, complemented by a thorough review of 17 in-house available gonadal biopsy and gonadectomy samples from 7 patients, no cases of germ cell neoplasia in situ (GCNIS) or invasive GCT were found in a total of 120 patients ([29, 30, 36] and unpublished data). Indeed, GCT development in DSD has been associated with the presence of the Y chromosome, more specifically the testis-specific protein-Y encoded chromosome, and with incomplete testicular differentiation (“testicularization”) of the gonad [37, 38], 2 risk factors that are absent in most ovotesticular DSD cases.…”
Section: Genetic Background Of Ovotesticular Dsdmentioning
confidence: 99%
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“…Approximately 80-90% of these cases are caused by translocation of the SRY allele onto the X chromosome, known as SRY-positive [5]. Testicular development may also occur in SRY-negative conditions and is caused by increased expression of pro-testis genes or insufficient expression of pro-ovarian genes [1,3,6]. SRY-negative (ovo)testicular DSD has been reported in XX individuals with duplications of SOX3, SOX9, and SOX10 [2].…”
Section: Introductionmentioning
confidence: 99%