UNASSIGNED: Ovotesticular disorder of sexual development (OT-DSD) is a rare sexual development disorder defined by the simultaneous existence of testicular and ovarian tissues (including follicular) in the same- or opposite-sex glands of an individual, with an incidence rate of about 1 in 100 000.
UNASSIGNED: This report aims to supplement the clinical presentation, pathology, diagnosis, and treatment of OT-DSD and to improve the diagnostic ability of clinicians for modified disease.
UNASSIGNED: This article is a retrospective analysis of a case of OT-DSD at our institution. Additionally, a comprehensive search of the PubMed database with the keywords \"ovotesticular disorder of sexual development\" or \"true hermaphroditism\" was conducted between 1956 and 2024, resulting in approximately 250 cases, and the results of the search are summarized.
UNASSIGNED: The patient, a 44-year-old male, sought treatment at our hospital on February 6, 2023, primarily due to \"intermittent hematospermia for over a month.\" He stated that it was discovered during infancy that his right scrotum was empty and lacking a testicle. Due to the low local medical services and the low-income family\'s economic conditions, he did not seek further diagnosis and treatment. After admission, the patient underwent computed tomography and magnetic resonance imaging and decided to undergo robot-assisted pelvic mass resection, which was pathologically confirmed as OT-DSD.
UNASSIGNED: The patient\'s definitive diagnosis was provided by postoperative pathology, and although the patient ultimately had a favorable outcome, diagnosis and treatment were delayed due to his atypical clinical presentation.
UNASSIGNED: This is a single case report; however, uncommon clinical presentations of rare diseases were identified, and a literature review was conducted. Unfortunately, there are some important missing data in the patient\'s medical history, including hormone assessment (testosterone, luteinizing hormone, follicle-stimulating hormone), tumor marker examination, semen analysis, scrotal ultrasound, and chromosomal analysis.
UNASSIGNED: Patients with OT-DSD have diverse types of gonads, chromosomal karyotypes, and phenotypes of external genitalia, and further exploration and research are needed for early diagnosis and treatment. In addition, cases of OT-DSD with fertility and no ambiguous genitalia are even rarer. This case guides us for adult patients with no ambiguous genitalia: if there is an inability to palpate 1 or both gonads and there is intermittent hematospermia, the possibility of OT-DSD should be suspected.

Ovotesticular (OT) disorder of sex development (DSD) is a rare condition that affects the development of reproductive organs and manifests in a wide range of phenotypic presentations. The clinical diagnosis of this condition is challenging because of its atypical nature, and the variability of presentation in 46,XX OT-DSD cases makes it a complex issue in medical practice. We report a case of a 13-year-old boy who presented with left scrotal pain. Further exploration revealed a tunica rupture without testicular torsion of the left testis, whereas the histopathological analysis of a nodule excised from the right testis indicated the presence of ovotestis tissues. A second nonemergent surgery preserved the testicular tissues as the ovarian tissue in both gonads was excised. After 22 months of follow-up, the patient\'s testes produced normal testosterone levels sustained over time without any exogenous supplementation. This case reveals that, in male children who present with an acute scrotal disease as adolescents, the gonads should be retained until the etiology is confirmed, and the possibility of OT-DSD should be considered.

True hermaphroditism is a rare condition. It is defined as the presence of both testicular and ovarian tissues in the same individual. Sex cord tumour with annular tubules (SCTAT) is a rare stromal tumour of the sex cord that occurs mostly in the ovaries.
A 16-year-old girl presented to the gynaecology department with primary amenorrhea. Gynaecological examination revealed an enlarged clitoris that looked like a small penis. The chromosome karyotype was chimaera. The postoperative pathology confirmed true hermaphroditism with SCTAT. The patient underwent hormonal replacement after an operation and had no evidence of recurrence for 6 months.
Cases of true hermaphroditism with SCTAT are extremely rare conditions. Surgery and hormonal replacement are important for improving the prognosis of such patients.

BACKGROUND: Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon.
UNASSIGNED: We report a case of a 36-year-old phenotypical male with a chief complaint of an abdominal mass for 3 months. He reported normal erections and regular menses. Computerized tomography showed a large tumor measuring 15 × 10 cm in size, a uterus, and a cystic ovary.
METHODS: 46, XX ovotesticular DSD with seminoma.
METHODS: The patient was treated with neochemotherapy (etoposide and cisplatin), surgery, chemotherapy, and testosterone replacement.
RESULTS: At the 13-month follow-up, the patient reported satisfactory erections, and no evidence of disease was found.
CONCLUSIONS: Cases of 46,XX ovotesticular DSD with seminoma are uncommon. Our case reveals the importance of surgery combined with neochemotherapy, chemotherapy, and testosterone replacement in these patients to improve the prognosis.

BACKGROUND: True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis.
UNASSIGNED: In this study, we reported a rare true hermaphroditism case with dysgerminoma. A 49-year-old woman developed masses in both inguinal regions for 30 years. Recently 3 months, the patient found that the size of mass in her left inguinal region was significantly increased.
METHODS: After surgical resection, the results of immunohistochemical examination in left mass revealed a dysgerminoma with positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4, and right mass was a cryptorchidism. Chromosomal analysis revealed the karyotype 46, XY. Combined immunohistochemical and karyotype analysis, a diagnosis of true hermaphroditism with dysgerminoma was made.
METHODS: Radiotherapy combined with chemotherapy after tumor resection was used to improve her prognosis. Hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate were used to maintain her female characteristics.
RESULTS: The patient underwent hormonal replacement and has been well for 6 months.
CONCLUSIONS: The positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4 could be 2 diagnosis markers of dysgerminoma. Surgery combined with radiotherapy and chemotherapy could improve the prognosis of dysgerminoma. Moreover, hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate was very helpful to maintain the female characteristic of patients with true hermaphroditism.

In mice, male sex determination depends on FGF9 signalling via FGFR2c in the bipotential gonads to maintain the expression of the key testis gene SOX9. In humans, however, while FGFR2 mutations have been linked to 46,XY disorders of sex development (DSD), the role of FGF9 is unresolved. The only reported pathogenic mutations in human FGF9, FGF9S99N and FGF9R62G, are dominant and result in craniosynostosis (fusion of cranial sutures) or multiple synostoses (fusion of limb joints). Whether these synostosis-causing FGF9 mutations impact upon gonadal development and DSD etiology has not been explored. We therefore examined embryonic gonads in the well-characterized Fgf9 missense mouse mutants, Fgf9S99N and Fgf9N143T, which phenocopy the skeletal defects of FGF9S99N and FGF9R62G variants, respectively. XY Fgf9S99N/S99N and XY Fgf9N143T/N143T fetal mouse gonads showed severely disorganized testis cords and partial XY sex reversal at 12.5 days post coitum (dpc), suggesting loss of FGF9 function. By 15.5 dpc, testis development in both mutants had partly recovered. Mitotic analysis in vivo and in vitro suggested that the testicular phenotypes in these mutants arise in part through reduced proliferation of the gonadal supporting cells. These data raise the possibility that human FGF9 mutations causative for dominant skeletal conditions can also lead to loss of FGF9 function in the developing testis, at least in mice. Our data suggest that, in humans, testis development is largely tolerant of deleterious FGF9 mutations which lead to skeletal defects, thus offering an explanation as to why XY DSDs are rare in patients with pathogenic FGF9 variants.

Hermaphroditism is a rare disorder that affects sexual development, resulting in individuals with both male and female sexual organs. Hermaphroditism is caused by anomalies in genes regulating sex determination, gonad development, or expression of hormones and their receptors during embryonic development during sexual differentiation. SRY is a sex-determination gene on the Y chromosome that is responsible for initiating male sex determination in mammals. In this study, we introduced CRISPR/Cas9-mediated mutations in the high-mobility-group (HMG) region of the rabbit SRY As expected, SRY-mutant chimeric rabbits were diagnosed with hermaphroditism, characterized by possessing ovotestis, testis, ovary and uterus simultaneously. Histopathology analysis revealed that the testicular tissue was immature and lacked spermatogenic cells, while the ovarian portion appeared normal and displayed follicles at different stages. This is the first report of a rabbit hermaphroditism model generated by the CRISPR/Cas9 system. This novel rabbit model could advance our understanding of the pathogenesis of hermaphroditism, and identify novel therapies for human clinical treatment of hermaphroditism.

BACKGROUND: The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China.
METHODS: Sixteen patients with OT-DSD during the past 4 years underwent the evaluation and treatment in a single center. The clinical characteristics and outcomes of surgery were analyzed.
RESULTS: The surgical age ranged from 17 months to 66 months with a mean age of 20 months, and the mean follow-up was 30 months (4 months to 56 months). The presentation in 11 patients was ambiguous genitalia, and the rest 5 patients were suspected to have DSD in preoperative examination before hypospadias repair. The karyotypes were 46, XX in 11 patients, 46, XX/46, XY in 3, 46, XX/47, XXY in 1, and 46, XY in 1. Initial reared sex was male in 14 patients, female in 1, and undetermined in 1. After surgery, genders were reassigned in 3 patients, while 15 patients were raised as male with testicular tissue left. Only 1 patient with ovarian tissue left was raised as female. Repair was completed in 11 males and 1 female, and stage I urethroplasty was done in 4 males. No further surgery to remove the gonads was needed for inconsonance of gender assignment. No gonadal tumors were detected.
CONCLUSIONS: OT-DSD is a rare and complex deformity with few systematic reports in China. It\'s important to establish a regular algorithm for evaluation and treatment of OT-DSD.

暂无摘要。

OBJECTIVE: To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene.
METHODS: Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed.
RESULTS: Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present.
CONCLUSIONS: The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.