Hermafroditismo verdadeiro: experiência com 36 casos

Abstract

RESUMO (27,8%). O SRY foi negativo em todos os pacientes com cariótipo 46,XX e a gôna-da mais freqüentemente encontrada foi ovotéstis (OT-47%), seguida de ovário (OV-27%) e testículo (TT -24%). As associações mais freqüentes foram OV + TT (30,5%), OT + OT (22,2%) e OT + OV (22,2%). A opção do sexo de criação independeu do cariótipo, do tamanho do falo e da dosagem sérica de testosterona, mas foi influenciada pelo posicionamento do meato uretral, que, quando não era perineal (11 casos), levou todos à opção masculina. Em cinco pacientes, todas 46,XX com opção para sexo feminino, pôde-se preservar a porção ovariana do ovotéstis. Conclusões: O HV continua a desafiar clínicos e investigadores pelo fato de, na maioria dos casos, o cariótipo ser 46,XX, o SRY estar ausente e, ainda assim, haver o desenvolvimento de tecidos ovariano e testicular. A opção preferencial é para o sexo feminino, e a tentativa de preservar o componente ovariano do ovotéstis pode permitir puberdade espontânea e fertilidade. Clinical and pathological data were retrospectively analyzed, as well as the decision about the sex of rearing. Results: genital ambiguity was the most frequent complaint (34/36 cases) and the age at the first appointment was 20 mo (median). In 55.6% of the patients the female option was taken. The most frequent karyotype was 46,XX (47.2%), followed by mosaicisms (27.8%). SRY was negative in all 46,XX TH patients and the prevalent gonad was ovotestis (OT-47%), followed by ovary (OV-27%) and testis (TT-24%). The prevalent gonadal associations were OV+TT (30.5%), OT+OT (22.2%) and OT+OV (22.2%). The decision about the sex of rearing did not depend on artigo original

Gender Assignment, Reassignment and Outcome in Disorders of Sex Development: Update of the 2005 Consensus Conference

“…Regardless of karyotype, roughly half of such newborns are assigned to the female gender and the other half to the male gender [65]. Some clinicians are particularly influenced in their gender decisions by the location of the urethral meatus and the associated surgical challenges [66], while others are led to favor female assignment by the frequent presence of a uterus and normal ovarian tissue as compared to the more frequently dysgenetic testicular tissue [67]. It is not surprising, therefore, that a number of case reports show gender dysphoria and/or patient-initiated gender change in either direction in patients with ovotesticular syndrome [68,69].…”

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review

“…This is strikingly different from the findings in patients with 46,XX testicular DSD (in which both gonads are testes), who are usually SRY-positive. In addition, SRY mutations leading to 46,XY OT-DSD are very rare [Walker et al, 2000;Domenice et al, 2001;Ortenberg et al, 2002;Damiani et al, 2005].…”

Inhibin A Production after Gonadotropin Stimulus: A New Method to Detect Ovarian Tissue in Ovotesticular Disorder of Sex Development

“…The author observed that 22% of the gonads had an incorrect diagnosis of testis or ovary from the biopsy when the correct diagnosis was ovotestis [6]. Therefore, the diagnosis of TH can be missed, especially in 46,XY DSD patients in whom histological studies of the gonads are not routinely performed [7]. …”