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.

Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures. We report a case of ovotestis diagnosed in an adolescent, with a review of the literature.
A 15-year-old patient presented with a right scrotal swelling associated with gynecomastia. Histology showed a juxtaposition of ovarian stroma with ovarian follicle and seminiferous tubules. Karyotype revealed a male subject (XY). We have therefore retained the diagnosis of ovotesticular disorders of sex development.
Ovotestis is a rare finding, heterogeneous in its genetic etiology and clinical presentation. While many patients are diagnosed during infancy or childhood, we presented a case diagnosed in a 15-year-old adolescent.

Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicular tissue may be due to variations in NR5A1. Our aims were to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and to perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD.
Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD. Systematic review of original studies on NR5A1 sequencing of 46,XX OT-DSD patients was performed according to PRISMA-P guideline. Case reports were selected for analysis of clinical features. Individuals with NR5A1-associated testicular DSD were not included.
Sanger sequencing of NR5A1 did not reveal pathogenic variants among our patients. Our cohort was included in this systematic review with seven other articles, totalizing fifty-six 46,XX OT-DSD patients investigated by Sanger or whole-exome sequencing. From them, three NR5A1 pathogenic variants were identified (5% of the cases). Clinical analysis of these 3 cases and 5 case reports revealed: predominance of ovotestis (13/16 gonads) and bilateral OT-DSD (5/8 cases).
The etiology of most 46,XX OT-DSD cases remains elusive, highlighting the importance of a deeper molecular investigation.

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 Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data.
OBJECTIVE: The aim of this study is to describe clinical, biochemical and histological findings, as well as long term outcomes (including onset and progression of puberty) in patients with OT DSD.
RESULTS: In a retrospective study of 31 patients, findings include predominantly male gender assignment at the time of referral (54.8%) and subsequent female gender of rearing (54.8%). The most frequent karyotype was 46,XX (58.1%). Ovotestis was the most frequent gonad (48.4%) Puberty could be evaluated in 20 patients, being spontaneous in 12 of them. Four patients with partial gonadectomy in infancy were able to enter female puberty spontaneously.
CONCLUSIONS: It was observed that patients who preserved gonadal tissues were able to enter puberty spontaneously.

This study aimed to delineate internal genitalia phenotypes in patients with ovotesticular disorders of sex development (OT-DSD). Therefore, a cohort of 22 OT-DSD patients admitted to the Peking Union Medical College Hospital from March 1977 to August 2019 was analyzed retrospectively. The characteristics of karyotype, gonad type and location, and internal genital organs were reviewed and compared to 242 pooled cases from the Chinese literature. As a result, the most common karyotype was 46,XX (68.2% in 22 cases of our hospital, 60.8% in the domestic literature). The combination of gonads was separated (ovary-testis, 45.1%), unilateral (ovotestis-ovary, 17.4%; ovotestis-testis, 13.0%), and bilateral (ovotestis-ovotestis, 24.5%). All the cases in our hospital had a uterus on the side of the ovary or ovotestis. Among the 19 female patients, 5 had a hysterectomy due to genital tract obstruction, 9 had vaginal dysplasia, 3 had premature ovarian failure, and only 2 women gave birth to a child. In conclusion, OT-DSD is a typical model of unilateral gonadal determinism: the uterus is present on the side of the ovotestis and ovary and the internal genital organs predominantly exhibit female characteristics. However, combined reproductive tract malformation and ovarian function of premature failure are not uncommon.

Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throughout ages, the role of genetics and risk for gonadal tumors when making decisions about prophylactic gonadectomy. Finally, we summarize the most recent information of the spontaneous endocrine function, with or without conservative therapy, and fertility potential of people with OT-DSD.

Disorders of sexual development are rare in non-human primates. We report a case of true hermaphroditism in a 19-year-old, nulliparous, female baboon (Papio spp.). At necropsy, the animal was obese with adequate muscle mass and hydration. Reproductive organs appeared normal with the exception of 2 firm nodular structures in the myometrium (1-1.5 cm diameter) and a thickened, dark endocervical mucosa. Histologically, both gonads were ovotestes and contained discrete areas of ovarian and testicular tissue. There were follicles in various stages of development surrounded by ovarian stroma. Other areas contained hypoplastic seminiferous tubules lined by Sertoli cells, but lacked germ cells and spermatozoa. The uterine lesions were consistent with adenomyosis and cystic endometrial hyperplasia. Cervical lesions were consistent with atypical glandular hyperplasia and squamous metaplasia with dysplasia. We report the first case of ovotesticular disorder of sexual development (OT-DSD), or true hermaphroditism in a baboon.

OBJECTIVE: The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort.
METHODS: The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD.
RESULTS: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness.
CONCLUSIONS: 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure.

OBJECTIVE: To study the clinicopathological characteristics and diagnosis of true hermaphroditism complicated with seminoma.
METHODS: We retrospectively analyzed the clinicopathological data of a case of true hermaphroditism complicated with seminoma and reviewed the related literature.
RESULTS: The patient was a 42-year-old male, admitted for bilateral lower back pain and discomfort. CT showed a huge mass in the lower middle abdomen. Gross pathological examination revealed a mass of uterine tissue, 7 cm x 2 cm x 6 cm in size, with bilateral oviducts and ovarian tissue. There was a cryptorchidism (4.0 cm x 2.5 cm x 1.5 cm) on the left and a huge tumor (22 cm x9 cm x6 cm) on the right of the uterine tissue. The tumor was completely encapsulated, with some testicular tissue. Microscopically, the tumor tissue was arranged in nests or sheets divided and surrounded by fibrous tissue. The tumor cells were large, with abundant and transparent cytoplasm, deeply stained nuclei, coarse granular chromatins, visible mitosis, and infiltration of a small number of lymphocytes in the stroma. The karyotype was 46, XX. Immunohistochemistry showed that PLAP and CD117 were positive, while the AFP, Vimentin, EMA, S100, CK-LMW, Desmin, CD34 and CD30 were negative, and Ki-67 was 20% positive. A small amount of residual normal testicular tissue was seen in the tumor tissue.
CONCLUSIONS: True hermaphroditism complicated with seminoma is rare. Histopathological analysis combined with immunohistochemical detection is of great value for its diagnosis and differential diagnosis.