Long-Term Followup of a Large Cohort of Patients with Ovotesticular Disorder of Sex Development

Sircili, Maria Helena Palma; Dénes, Francisco Tibor; Costa, Elaine Maria Frade; Machado, Marcos Giannetti; Inácio, Marlene; Silva, Rosana Barbosa; Srougi, Miguel; Mendonca, Berenice B.; Domenice, Sorahia

doi:10.1016/j.juro.2013.10.037

Cited by 48 publications

(48 citation statements)

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“…This has been a constant finding in previously published studies and can be explained by genetic, environmental, and embryological factors [19]. As in previous studies, we found that gonadal combinations were variable and unpredictable [12]. …”

Section: Discussionsupporting

confidence: 81%

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The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

et al. 2017

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Objective: To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). Study Design: This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. Results: All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p < 0.0001). The male gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3–9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. Conclusion: OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD.

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Section: Discussionsupporting

confidence: 81%

“…Several retrospective studies have reported on the long-term outcomes of subjects with OT DSD [10-12]. However, there are limited studies on the clinical features, gender assignment, and treatment outcomes in children with OT DSD in South Africa.…”

Section: Introductionmentioning

confidence: 99%

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

et al. 2017

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“…The location of the urethral meatus and associated surgical challenges, dysgenetic testicular tissue and the presence of a uterus and normal ovarian tissue influenced the assignment in the past [86]. Case studies report gender dysphoria and/or patient-initiated gender change in either direction in patients [87,88]. For this condition and others, only systematic large long-term gender outcome and QoL data will constitute a solid empirical basis for determining crucial factors involved in assignment decisions.…”

Section: Evolving Perceptions: Male or Female Assignment Reassignmenmentioning

confidence: 99%

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

et al. 2016

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The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.

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“…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]. Only systematic long-term follow-up data on gender outcome and quality of life in sizeable samples will constitute a solid empirical basis for deciding on the crucial factors to consider in gender assignment decisions.…”

Section: Changes In Gender Assignment Policies For Newborns With Genimentioning

confidence: 99%

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

Meyer‐Bahlburg

Dalke²,

Berenbaum³

et al. 2016

Horm Res Paediatr

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Background: Societal changes are increasingly moving the conceptualization of gender from a set of binary categories towards a bimodal continuum, which along with the cautious conclusions resulting from the 2005 Consensus Conference influences gender-related clinical work with patients with disorders of sex development. Objective: This article provides an update of these developments over the past decade along with an overview of pertinent new data. Conclusion: Considerably more research is needed on larger sample sizes with systematic long-term follow-up to ground the emerging trends in clinical management of the highly diverse disorders of sex development syndromes in a solid empirical basis.

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Long-Term Followup of a Large Cohort of Patients with Ovotesticular Disorder of Sex Development

Abstract: Male gender assignment was more prevalent. Long-term followup revealed adequate pubertal development and sexual activity. Complications involving the urethra developed frequently in male patients.

Cited by 48 publications

References 20 publications

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

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

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