Long‐term outcome of ovotesticular disorder of sex development: A single center experience

Abstract

Objectives:To describe the clinical features of children with ovotesticular disorder of sex development (DSD) and to review cases of ovotesticular DSD in Japan. Methods: Medical records of eight children diagnosed with ovotesticular DSD at our institute during the past 17 years were retrospectively evaluated. A review of 165 reported cases of ovotesticular DSD from Japanese institutions was carried out. Results: Mean follow up was 8.2 years for six children, with two children lost to follow up. Mean age at first presentation was 2.4 months. All children were Japanese. The most common initial manifestation was ambiguous genitalia. The female-: male ratio as the sex of rearing was 1:1. Gender reassignment, from male to female, was carried out in one child at 4-months-old. Genital surgery was always carried out in early childhood as per family desire. Appropriate gonadal tissue was preserved except for one child. No gonadal tumors were detected during follow up. Spontaneous pubertal development occurred in one boy. In reviewing Japanese data, the frequency of testes was higher than in other ethnicities and this was related to the higher incidence of 46,XY. Conclusions: According to our experience, most families in Japan desire early genital surgery in the case of ovotesticular DSD. Chromosomal and gonadal distributions in patients with ovotesticular DSD differ between Japanese and other ethnic groups. Treatment for these patients needs to be provided after considering the cultural and social backgrounds of DSD in Japan.

The disturbed gonadal differentiation: dysgenesis and ovotesticular disorder of sex formation

“…Тестикулярные части гонады, как правило, дисгене-тичны, являются источником для малигнизации и подлежат обязательному удалению [4][5][6]. Овари-альные отделы в большинстве случаев содержат дифференцированные структуры яичника с нали-чием примордиальных фолликулов различной сте-пени зрелости [12,13]. Такая структура гонад описа-на нами у первых двух пациенток.…”

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

“…Once the diagnosis of genital ambiguity is made, on-going psychological support for the patient, parents, and other family members is critical. 8 Evaluation should be made efficiently to ensure that the appropriate gender is assigned, potential life threatening complications are recognized, necessary medical, surgical and psychological interventions begin promptly.…”

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

“…However, all studies agree that 46,XX is the most common karyotype observed in blood samples, ranging from ∼ 65 to 90% [Verkauskas et al, 2007;Wiersma and Ramdial, 2009;Matsui et al, 2011]. The remaining cases carry a Y chromosome (46,XY, 46,XX/46,XY or other mosaicisms), which explains the development of testicular tissue.…”

“…In unselected samples of limited numbers (between 30 and 33 patients), the reported prevalence of SRY -positive 46,XX ovotesticular DSD cases ranges from 10% [McElreavey et al, 1992] to 33% [Verkauskas et al, 2007]. Yet, frequencies may range from 0% of cases when SRY was studied in blood cells of 46,XX ovotesticular DSD patients with ambiguous genitalia [Matsui et al, 2011] to 100% of cases when SRY was determined in blood cells of 46,XX testicular DSD with complete virilisation [Vorona et al, 2007] or in gonadal tissue of 46,XX ovotesticular DSD cases with ambiguous genitalia [Ortenberg et al, 2002]. Despite imprecision, evidence that SRY could not explain all cases of 46,XX maleness became progressively stronger.…”