Histopathological spectrum of disorders of sexual development: a case series of seven cases

Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

PURPOSE: Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The differential diagnosis of these conditions is based on karyotype and pathological findings of the gonads. This study investigated the clinical features at presentation, karyotype, sex of rearing, and pubertal outcomes of patients with ovotesticular DSD and MGD.METHODS: The study comprised 23 patients with DSD who presented with asymmetric gonads. The presenting features, karyotype, sex of rearing, and pubertal outcomes were reviewed retrospectively.RESULTS: All 23 patients presented with ambiguous genitalia at a median age of 1 month (range, 1 day–1.6 years). Müllerian duct remnants were identified in 15 of 23 patients (65.2%). Fourteen patients were diagnosed with ovotesticular DSD, whereas the other 9 were diagnosed with MGD. Eight of 14 patients (57.1%) with ovotesticular DSD were raised as males, while 7 of 9 patients with MGD (77.8%) were assigned as males. One male-assigned patient with ovotesticular DSD changed to female sex at age 20 years.CONCLUSION: Patients with ovotesticular DSD and MGD manifest overlapping clinical presentations and hormonal profiles. It is difficult to determine the sex of rearing and predict long-term pubertal outcomes. Therefore, long-term follow-up is required to monitor spontaneous puberty, sex outcome, and urological and gynecological complications.

Ambiguous genitalia: A rare case report.

Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development (DSD). A seven‑year‑old child with vagina and an elongated clitoris looking like a penile part of male external genitalia, presented in the Paediatric Surgery Department. Ultrasound of pelvis revealed a streak ovary on the right side and ovotestis on the left side. Uterus was not visualized. Karyotyping revealed 46, XY/45, XO genotype. Laparoscopic gonadectomy with vaginoplasty and the clitoral reduction was performed. A thorough histopathological examination of the specimen revealed structure of ovotestis‑consisting of the ovary with Graafian follicles, fallopian tube, infantile testis with Leydig and Sertoli cells, epididymis, vas deference, and pampiniform plexus. Presence of Graafian follicle in the ovary, Leydig and Sertoli cells in the testis, at this age makes this case extremely interesting. The child was rehabilitated to lead her life as a girl.

True hermaphrodite with teratoma.

A 32 years old healthy male, married for 6 years presented with infertility. Clinical examination revealed normal external genitalia with underdeveloped empty scrotum. Radiological investigations reported bilateral intra abdominal testis with left testis showing features of teratoma. Intra- operative findings showed bilateral intra abdominal testis along with uterus and fallopian tube and left testis with features of teratoma. Histopathology confirmed the presence of uterus, cervix, right adnexa with atropic testis with tube, seminal vesical, epididymis, and left adnexa ovotestis withmature teratoma, tube and epididymis. Cytogenetics reported 46, XY karyotype. This case is rare presentation of combination of male phenotype true hermaphrodite with presence of teratoma.

Approach to the patients with ovotestis / 中华内分泌代谢杂志

Ovotestis is a rare disorder of sexual differentiation in which the gonads have both ovarian and testicular elements. The patients always present with ambiguous external genitalia, and there are usually with serious disorder between chromosomal sex, gonadal sex, social sex, and psychological sex. The definite diagnosis and gender confirmation, appropriate surgery in internal genitalia and orthomorphia in external genitalia, as well as psychological support are essential for a multidisciplinary medical group in managing this disease. The medical data of two children with ovotestis who were reared as boy or girl respectively were analyzed.

A hermaphrodite dog with bilateral ovotestes and pyometra

Hermaphroditism was identified in a 3-year-old American Cocker spaniel with an enlarged os clitoridis that was shown as reddish finger-like structure protruding from the vulva. The urethral orifice was located cranially to the base of the os clitoridis. The gonads were situated caudal to the kidneys at the cranial tips of the uterine horns, and were composed mainly of seminiferous tubules and interstitial cells and had ovarian follicles in the cortices. The uterus was enlarged and revealed pyometra. Gross and histopathological findings of the dog suggested hermaphroditism with bilateral ovotestes and pyometra.

A Case of True Hermaphroditism Masquerading as Testicular Tumor / 대한비뇨기과학회지

True hermaphroditism represents the rarest of all intersex disorders. The condition is defined by the presence of both ovarian and testicular tissue in the same individual. True hermaphroditism is usually diagnosed during the newborn period in the course of evaluating ambiguous genitalia. We present an unusual case of a 15-year-old boy with phenotypically normal male genitalia and bilaterally descended ovotestis, who was seen for evalution of intermittent scrotal swelling and pain.