Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature.

INTRODUCTION: 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. CASE REPORT: 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. CONCLUSION: 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.

True hermaphroditism with sex cord tumor with annular tubules (SCTAT): a rare case report and review of the literature.

BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSION: Cases of true hermaphroditism with SCTAT are extremely rare conditions. Surgery and hormonal replacement are important for improving the prognosis of such patients.

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report.

RATIONALE: 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. PATIENT CONCERNS: 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. DIAGNOSIS: 46, XX ovotesticular DSD with seminoma. INTERVENTIONS: The patient was treated with neochemotherapy (etoposide and cisplatin), surgery, chemotherapy, and testosterone replacement. OUTCOMES: At the 13-month follow-up, the patient reported satisfactory erections, and no evidence of disease was found. CONCLUSION: 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.

True hermaphroditism with dysgerminoma: A case report.

INTRODUCTION: True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis. PATIENT CONCERNS: 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. DIAGNOSIS: 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. INTERVENTIONS: 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. OUTCOMES: The patient underwent hormonal replacement and has been well for 6 months. CONCLUSION: 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.

Síndrome de persistencia de los conductos mullerianos: una rara entidad que debe ser conocida / Persistent Müllerian Duct Symdrome: a rare anomaly that must be known

Introducción: El síndrome de persistencia de los conductos müllerianos es un raro trastorno de la diferenciación sexual con menos de 300 casos publicados, que se caracteriza por la presencia en la persona afectada de ambos sistemas reproductores masculino y femenino. Un varón con cariotipo XY fenotípicamente masculino en quien el conducto de Müller (útero, trompas, 2/3 superior de la vagi-na) no sufrió regresión. Caso clínico: Masculino de 14 meses de edad ingresado en el Hospital de Especialidades del Seguro Social para laparoscopía diagnostica por criptorquidia bilateral con testículos no palpables y pene normal. En la laparoscopía se identiicó trompas, útero y 2/3 superior de la vagina. Además, se tomó biopsia de ambas gónadas que conirmó presencia de tejido testicular normal para la edad. Con estos datos se programa para orquidopexia bilateral más histerectomía, colpectomía y salpingectomía bilateral. Es controlado en consulta externa de endocrinología y cirugía con evolución normal. Conclusiones: El síndrome de persistencia de los conductos mül-lerianos es muy raro debe sospecharse en masculinos con criptorquidia bilateral con testículos no palpables y pene normal. El abordaje inicial debe ser laparoscopía diagnóstica con toma de biopsia de ambas gónadas y luego en la segunda intervención ya con el reporte de patología proceder a la orquidopexia bilateral más la remoción de los elementos del conducto de Müller...(AU)

Ovotesticular Disorder of Sex Development Presenting as an Acute Scrotum.

Hermaphroditism is known as ovotesticular disorder of sex development. A 14-year-old boy was admitted with right acute scrotum. Exploration revealed tunica rupture and hematoma, with no viable tissue. After 1 month, he was admitted again with left hemiscrotal pain. Microscopic examination of the left gonad demonstrated foci of hemorrhagic cysts, primordial follicles, and regions of seminiferous tubules. We preserved a testicular tissue and the ovarian part was extracted completely. Long-term follow-up with his hormonal profile is reported. This is a case of ovotesticular disorder presented with acute scrotum and we also tried to reduce long-term hormone therapy, with preservation of testicular part.

Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.

Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. Herein, we report two patients with ovotesticular DSD-one presenting with ambiguous genitalia on the third day after birth and the other with short stature and primary amenorrhea in adolescence. Clinical and histopathological investigation revealed a sex-determining region on the Y chromosome (SRY)-positive 46,XX karyotype and bilateral ovotestes in case 1 and a 46,XY karyotype with hypergonadotropic hypogonadism and a streak gonad in one ovotestis with dysgerminoma, gonadoblastoma, and papillary tubal hyperplasia in the contralateral ovotestis in case 2. Laparoscopic examination and gonadal biopsy for histopathological diagnosis remain the cornerstones for a diagnosis of ovotesticular DSD. Moreover, SRY positivity in a 46,XX patient, a 46,XY karyotype, an intra-abdominal gonad, and the age of patient at the time of diagnosis are predictive risk factors for the development of gonadoblastoma and/or dysgerminoma in ovotesticular DSD.

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

STUDY 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. PARTICIPANTS: 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. CONCLUSION: 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.

[Clinicopathological characterization of true hermaphroditism complicated with seminoma and review of the literature].

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. CONCLUSION: True hermaphroditism complicated with seminoma is rare. Histopathological analysis combined with immunohistochemical detection is of great value for its diagnosis and differential diagnosis.

True hermaphrodite - a rare case for hysterectomy.

One apparently healthy male patient reported at the Urology outpatient department, Bangabandhu Sheikh Mujib Medical University, Bangladesh, with the history of cyclical bleeding per urethra. He started bleeding from the age of 10. The bleeding lasted for 2-3 days. He also had cyclical lower abdominal pain, which remained unexplained. Menstruation occurred every 3-4 months. Left testis was normal but there was a separate soft palpable mass from its lower pole. Chromosomal analysis showed translocation of X and Y chromosome 45(t X/Y). Ultrasonography revealed normal kidneys with well-filled urinary bladder that appeared regular in outline. Left testis was normal in size, measuring about 2.73 × 1.72 cm. Its echotexture was finely homogenous with no evidence of collection or mass. There was a multiloculated cystic mass in the right half of scrotum. Right testis was not visualised along the line of descent. Surprisingly, uterus was found to be present and normal in size and anteverted in position. Fluid collection was noted in the uterine cavity. No ovarian outline was noted. FSH level was almost four times the normal level for males (31.74 IU). The LH level was slightly raised (16.17 IU). The testosterone, Estradiol and Prolactin level were within normal male range, being 3.5 microgram/L, 24 pg/L, and 13.54 microgram/L respectively. Semen analysis revealed azoospermia but the amount of semen was normal. After discussion with the patient, a total abdominal hysterectomy with right-sided salpingo-oophorectomy and left salpingectomy was performed under general anaesthesia. True hermaphrodites must be distinguished from a false one, they have both male and female gonadal tissue, false hermaphrodites are unisexual, but their sex organs resemble those of the opposite sex. This particular patient raised great interest because true hermaphrodites are rare. Attempts were made to make his life normal as a male. If he had the opportunity to have easy access to medical treatment, would he be raised as a female? Controversies are paramount. In this patient, subsequent surgery was done by urologists to correct the chordee and the hypospadias. The overall life of this patient is still a dilemma to us. It was a rare case of hysterectomy done, from the gynaecologist's point of view.

Ovotesticular disorder of sex development with a prostatic gland and review of literature.

Ovotesticular disorder of sex development (OTDSD) is a rare condition and defined as the presence of ovarian and testicular tissue in the same individual. Most of patients with OTDSD have female internal genital organs. In this report, we present a case in which, we demonstrated prostate tissue using endoscopic and radiologic methods in a 46-XX, sex determining region of the Y chromosome negative male phenotypic patient, with no female internal genitalia. Existence of prostate in an XX male without SRY is rarely seen and reveals a complete male phenotype. This finding is critical to figure out what happens in embryonal period.

Pure ovarian choriocarinoma mimicking ectopic pregnancy in true hermaphroditism.

Ovarian choriocarinoma is a rare tumor and has not been described before in a true hermaphrodite condition. A 23-year-old karyotype 46XX parous female was admitted to hospital because of amenorrhea, irregular vaginal bleeding, an adnexal mass, and an increased beta-hCG serum level. Ectopic pregnancy was suspected three times and exploratory laparoscopy done each time removing the right ovarian mass and local pelvic and omental spread. Final pathology revealed a true hermaphrodite state with testicular tissue with distinct tubules, ovarian tissue with follicles, and ovarian choriocarinoma with necrosis and hemorrhage. She received chemotherapy followed by radical pelvic surgery.

[Transsexualism as a clinical symptom of true hermaphroditism].

Transsexualism is incorrectly thought to be a disease of sexual centers (zones) of the brain but these sexual centers in the brain operate only in response to action of sexual hormones (androgens or estrogens) which are produced in the gonads and delivered to the brain by blood. In hermaphroditism the brain receives both androgens and estrogens. Transsexualism syndrome develops in cases when all sexual organs develop under the influence of one sex while sexual psychoorientation, sexual autoidentification and sexual behavior form under the influence of hormones of the other sex. Therefore, treatment of this syndrome should not consist of surgical correction of the sex according to psychic behavior of the patient but should be directed to detection of the gonad (or gonadal tissue) causing abnormal behavior and its removal. Gonad corresponding to sexual organs of the patient should be preserved. Of 19 patients with true hermaphroditism and 199 patients with false hermaphroditism observed by the authors 4 patients with true hermaphroditism had transsexualism.

A rare presentation of true hermaphroditism: an abnormal inguinoscrotal mass.

This study examined the differential diagnosis of inguinoscrotal masses and true hermaphroditism as well as incarcerated inguinal hernia in the differential diagnosis of abnormal inguinoscrotal masses. Inguinoscrotal masses are a rare presentation of true hermaphroditism. A child with an inguinoscrotal mass of the right groin and penoscrotal hypospadias was diagnosed. Our case suggested that abnormal inguinoscrotal masses occur in true hermaphroditism as well as incarcerated inguinal hernia. These congenital anomalies should be considered in the differential diagnosis of inguinoscrotal masses of the groin.

Seminoma in a male phenotype 46XX true hermaphrodite.

Although true hermaphrodite is uncommon, it has been reported in more than 400 individuals. Tumours arising in the gonads of true hermaphrodite is a very rare finding and only very few cases have been reported in the literature. We report a case of a 35-year-old phenotype man with bilateral undescended testis with lump hypogastrium. On examination, he had an ovotestis on one side and pure seminoma arising in testis on the other side. The seminoma arising in the left undescended testis was successfully treated by excision and combination chemotherapy. Cytogenetic studies revealed that 46XX karyotype with primer specific for the sex-determining region of the Y chromosome was negative. The karyotypic abnormality noticed in the patient is also reviewed in the article.

True hermaphroditism: clinical profile and management of six patients from North India.

True hermaphroditism (TH) is an uncommon cause of genital ambiguity. This is a retrospective compilation of six cases of true hermaphroditism seen at our institute over the last one and a half decades. Clinical presentation was wide-ranging, with age at presentation varying from 2 months to 41 years and symptoms ranging from ambiguous genitalia to a lower abdominal mass. All patients had perineoscrotal hypospadias with varying degrees of labioscrotal fusion. Clinically, gonads were not palpable in four cases and internally an ovotestis was observed in half of them. Karyotyping was 46, XX in all except one. The majority of the patients were reared as males. True hermaphroditism (TH) forms an important differential in the diagnostic algorithm of ambiguous genitalia especially if gonads are not palpable and congenital adrenal hyperplasia has been ruled out.

Invasive squamous cell carcinoma of the vagina in the setting of true hermaphroditism.

BACKGROUND: Primary vaginal cancer constitutes less than 2% of all malignancies of the female genital tract and is even rarer in true hermaphrodites. A unique case report of the occurrence of both of these developments in the same patient is presented. CASE: A 31-year-old 46,XX hermaphrodite presented with a history of vague abdominal symptoms and weight loss. Surgery was performed, and pathology revealed invasive squamous cell cancer arising in an epithelial-lined tissue consistent with vagina. The patient subsequently completed whole pelvic external-beam radiation therapy with cisplatin chemosensitization. CONCLUSION: This is a case of primary vaginal cancer in a patient with true hermaphroditism, which is exceedingly rare. It is a reminder that malignant changes in residual mullerian tissue should be considered in these patients.

True hermaphrodite: very unusual type.

True hermaphrodite is one of the rare gonadal as well as genital abnormality due to a defect in sexual differentiation. Here, we are reporting the most unusual type of true hermaphrodite diagnosed at the age of 25 years during operation for undescended testis, presenting as a case of infertility and failure to ejaculate during sexual intercourse. The patient was found to have grossly as well as histologically proven left ovary, left fallopian tube and uterus as well as a well descended left testis, with totally absent either right fallopian tube and ovary or testis. Thus, this is unusual finding to ratify the occurrence of true hermaphrodite in the absence of ambiguous external genitalia.