Ovotesticular Disorder of Sex Development in Korean Children: A Single-Center Analysis over a 30-Year Period.

STUDY OBJECTIVE: To present clinical features that characterize ovotesticular disorder of sex development (OT-DSD) in the Korean population. Among the patient cohort who were initially suspected to have OT-DSD, the actual OT-DSD patients and those of other disorder of sex development were compared. DESIGN: Retrospective medical chart review of patients who were initially suspected to have OT-DSD from 1984 to 2018 on the basis of clinical examination. SETTING: Tertiary care university hospital. PARTICIPANTS: Of 26 patients with initial diagnosis of OT-DSD, 3 were excluded because of incomplete records, and finally, 23 patients were subjected to analysis. Various examinations were performed before the surgical confirmation of gonad histopathology. INTERVENTIONS: Medical records were reviewed for clinical, anatomical, biochemical, and cytogenic characteristics, gender assignment, medical treatment, and histopathologic diagnosis. MAIN OUTCOME MEASURES: Characteristics of OT-DSD in a Korean population. RESULTS: Among 23 patients suspected to have OT-DSD, 13/23 (56.5%) were diagnosed as OT-DSD after histopathologic confirmation. Of the remaining 10 patients, 5/23 (21.7%) were diagnosed with mixed gonadal dysgenesis, 3 with Turner variant, 1 with 46,XX disorder of sex development, and 1 with Mayer-Rokitansky-Küster-Hauser syndrome. Among the 13 OT-DSD cases, 9 patients presented with the 46,XX karyotype, 1 with the 46,XY, and 3 with the 46,XX/XY karyotype. Nine patients were assigned as male and 4 as female at birth. The most common gonad histology was ovotestis 10/26 (38%), followed by ovary and testis. CONCLUSION: OT-DSD is one of the rarest disorders with various clinical presentations. A patient with ambiguous genitalia must be examined with a multidisciplinary approach with clinical suspicion for OT-DSD. Standardized procedure of evaluation and treatment is crucial.

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

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.

Histopathological assessment of liver and gonad pathology in continental slope fish from the northeast Atlantic Ocean.

The deep-sea environment is a sink for a wide variety of contaminants including heavy metals and organic compounds of anthropogenic origin. Life history traits of many deep-water fish species including longevity and high trophic position may predispose them to contaminant exposure and subsequent induction of pathological changes, including tumour formation. The lack of evidence for this hypothesis prompted this investigation in order to provide data on the presence of pathological changes in the liver and gonads of several deep-water fish species. Fish were obtained from the north east region of the Bay of Biscay (north east Atlantic Ocean) by trawling at depths between 700 and 1400 m. Liver and gonad samples were collected on board ship and fixed for histological processing and subsequent examination by light microscopy. Hepatocellular and nuclear pleomorphism and individual cases of ovotestis and foci of cellular alteration (FCA) were detected in black scabbardfish (Aphanopus carbo). Six cases of FCA were observed in orange roughy (Hoplostethus atlanticus) (n = 50) together with a single case of hepatocellular adenoma. A wide variety of inflammatory and degenerative lesions were found in all species examined. Deep-water fish display a range of pathologies similar to those seen in shelf-sea species used for international monitoring programmes including biological effects of contaminants. This study has confirmed the utility of health screening in deep-water fish for detecting evidence of prior exposure to contaminants and has also gained evidence of pathology potentially associated with exposure to algal toxins.

OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.

OBJECTIVE: Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India. METHODS: The records of patients referred to our center for disorders of sex development between 2005 and 2013 were reviewed, and 7 patients were found to have histologically proven OT DSD. RESULTS: The median age at presentation was 8 years (range, 2 months to 25 years). Clinical presentation varied from genital ambiguity and inguinal swelling at birth to gynecomastia and cyclical hematuria after puberty. Karyotype was 46, XX in 6 patients and 46, XY in 1 patient. All patients underwent pelvic ultrasonography, laparoscopy, and surgery for removal of gonads not congruous with the chosen sex of rearing. Gender assignment for all the patients was done by the parents at birth, which was mainly influenced by the external genitalia and sociocultural influences, with 5 out of the 7 patients being reared as males. There was no evidence of gonadal tumors in our study. CONCLUSION: OT DSD should be considered as one of the differential diagnoses in cases of ambiguous genitalia with nonpalpable or asymmetrical gonads, pubertal gynecomastia, and cyclical hematuria, irrespective of the karyotype or internal genitalia.

Intersex frogs concentrated in suburban and urban landscapes.

The occurrence of intersex characteristics in amphibians has been linked to pesticide exposure in the laboratory and proximity to agricultural activity within natural populations. But, overall, the ecology of amphibian intersex is poorly known and, specifically, its occurrence in many landscape types and regions is unstudied. We offer the first analysis of the frequency of amphibian intersex across a range of land covers representing the major landscape types within a region. We used remotely sensed information to characterize land cover surrounding 4774 potential sampling locations within the Connecticut River Valley. From among these, we selected 24 ponds to collect postmetamorphic green frogs (Rana clamitans) from four land cover types: undeveloped, agricultural, suburban, and urban. Collected males were preserved and, then, prepared gonadal tissue samples were screened for the presence of testicular oocytes. A total of 233 animals was examined. Thirteen percent of all male green frogs had gonads containing testicular oocytes. Sexual abnormalities were not randomly distributed among sites or landscape types. Suburban landscapes had the highest frequency of abnormalities (21%), and both suburban and urban land covers were positively associated with the presence of abnormalities within a population. There was no evidence of a positive association with agricultural land cover. Examination of amphibian intersex across a range of contexts reveals that developed landscapes may be hotspots for abnormal sexual development. This new finding suggests that other mechanisms, not previously considered, could contribute to intersex in natural amphibian populations.

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