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Anomalies of the urogenital sinus have been described in association with male pseudohermaphroditism, bladder and uterine duplication, and a spectrum of external genital anomalies, including a female phallic urethra. The evaluation and optimal surgical management of these anomalies can be complex. We describe a case of a female patient with an accessory phallic urethra and a urogenital sinus anomaly. The presence of stenosis of the accessory urethral meatus led to the formation of a giant diverticulum with unusual features. The complete repair of the anomaly incorporated creation of labia minora from portions of the diverticulum.

Objectives To analyze the steroid 5-alpha reductase type 2 gene ( SRD5A2 ) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. Methods Two female siblings of a family with 7 children were referred to the urology department because of bilateral inguinal masses. The patients had presented after birth with ambiguous genitalia, but no further diagnostic procedures had been performed, and they were raised as girls until the ages of 13 and 15 years. At this time, both had striking ambiguity of the genitalia, with a clitoris-like phallus, severely bifid scrotum, pseudovaginal perineoscrotal hypospadias, a rudimentary prostate, and inguinal testes. Karyotype was 46,XY. Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. Molecular genetic analysis was performed on deoxyribonucleic acid from peripheral blood leukocytes by single-stranded conformational polymorphism analysis and direct sequencing. Results Analysis of the SRD5A2 gene revealed a new homozygous missense mutation in exon 2. At codon 123, we identified a GGA to AGA change resulting in a missense amino acid change from glycine to arginine (G123R). Both parents and the 2 healthy sisters and 3 brothers were all heterozygous at codon 123 for the same mutation. Conclusions We report a novel homozygous missense mutation in exon 2 of the 5-alpha reductase type 2 gene that led to severe undervirilization in 2 siblings.

A man underwent exploration of the left groin for a presumed obstructed inguinal hernia. At surgery, both testes with separate spermatic cords were found to descend through the left inguinal canal with structures that appeared to be a well-developed uterus, fallopian tubes, and broad ligament lying in between (Fig. 1). Initial biopsy of the “uterus” revealed myometrial tissue. Informed of the diagnosis, the patient declined subsequent surgical removal. Follow-up was uneventful. Transverse testicular ectopia with persistent mullerian duct syndrome is a form of male pseudohermaphroditism due to deficiency of the mullerian-inhibiting substance responsible for regression of the fetal mullerian structures in the developing male fetus. Described in 1895 by Jordan, only 100 cases have been described to date.1 These phenotypic males are often azoospermic, although putative fertility has been reported.2 The position of the mullerian remnants is variable, being scrotal, inguinal, or intra-abdominal. The management varies from laparoscopic correction3 to preservation of the mullerian structures, especially when the blood supply of the testes is thought to be at risk. The striking feature in our patient was the well-developed uterus and adnexa resembling those of the young adult female.

An infant born at 38 weeks' gestation with ambiguous genitalia had a prenatal 45X karyotype but an enlarged phallus on an ultrasound scan at 31 weeks' gestation. The newborn examination demonstrated penoscrotal hypospadias with chordee and two gonads palpable in the scrotum with a right hydrocele. Ultrasound showed a saccular structure containing debris behind the bladder. The postnatal karyotype was revealed to be 45X/46XY, with a pseudodicentric Y chromosome. Cystoscopy/genitography identified a uterus and a right fallopian tube, which were removed along with a dysgenetic right gonad. Biopsy of the descended left gonad revealed rare germ cells. The final diagnosis was 45X/46XY male pseudohermaphroditism with testicular dysgenesis. One should be aware of possible chromosomal mosaicism and combine the prenatal karyotype with the ultrasound genital findings to formulate an intersex differential diagnosis.

Objective. Experience with male pseudohermaphrodites at King Fahd Hospital of King Faisal University, AI-Khobar, Saudi Arabia from 1981 to 1991 was reviewed to ascertain the factors determining the gender of rearing. Methods. The records of 14 patients consisting of 6 prepubertal and 8 postpubertal patients were studied. None of the patients had any prior evaluation or treatment, since their gender assignment at birth was carried out by midwives in rural communities. The males presented to our hospital with ambiguous genitalia: small phallus, bifid scrotum, perineoscrotal hypospadias, and undescended testes (UDT). Most of those raised as females presented in the postpubertal period seeking remedy for deep voice, excessive musculature, facial hair, erection of the phallus, ejaculation, inappropriate attraction to the female sex, and primary amenorrhea. As their male genotype became determined, all the patients and/or their parents, with the exception of one, insisted on appropriate reconstructive surgery to the male gender. This report focuses primarily on 11 patients assigned a female gender at birth, 10 of whom insisted on a gender change. Results. Most adolescents and adults still complained of small penises after reconstructive surgery, but cherished their male role. Conclusions. The male genotype is a more important factor than phallic adequacy in determining the gender of rearing in the Kingdom of Saudi Arabia, an observation attributable to the financial, social, and cultural benefits that the male gender confers in Saudi society.

Laparoscopy provides a minimally invasive technique for the accurate diagnosis of intersex problems and may also provide the opportunity for therapeutic management of these patients. Herein, we report our management of a patient with complete testicular feminization, by laparoscopic bilateral gonadectomy of fully developed intra-abdominal testes.

A localized Gleason score 6 (3 + 3) prostate cancer was found in a 56-year-old man with bilateral cryptorchidism. Radical laparoscopic prostatectomy was performed. However, at the beginning of the procedure, a uterus, two fallopian tubes, and two intra-abdominal gonads were endoscopically identified. The müllerian rests were excised and the gonads biopsied. The histologic examination showed testicular tissue. The association of prostate cancer and persistent müllerian duct syndrome to our knowledge has not previously been reported. Prostate cancer is an androgen-dependent neoplasm, and patients with male pseudohermaphroditism have poor androgen production that should provide protection against it.

A case is reported of a child with male pseudo hermaphroditism in whom Wilms tumor developed at age twenty-two months. The tumor was treated accordingly, but the child subsequently died of nephrotic syndrome with renal failure at age thirty-two months. After reviewing the similar concurrence of these disorders described as a syndrome, it was suggested that they may have basic embryologic abnormalities in common and that all of them originate during embryogenesis. The importance of bearing this syndrome in mind in the management of a child with abnormal gonadal differentiation is stressed.

A newborn with dysgenetic male pseudohermaphroditism associated with a gonadoblastoma is presented. The importance of differentiating this syndrome from other forms of male pseudohermaphroditism is emphasized.

We have studied 2 cases of nonfamilial male pseudohermaphroditism by persistent mullerian ducts. The first case, found in a fourteen-year-old male, can be described as the classic form of cryptorchism which resisted hormonal treatment and in which a rudimentary uterus with fallopian tubes and atrophic testicles were found at exploratory laparotomy. The second case was discovered in a thirty-nine-year-old man who had bilateral crytorchism. He presented with an abdominal mass which was found to be a seminoma in the right intra-abdominal testicle, and a well-defined uterus with fallopian tubes and an atrophic left testicle were seen. Neither case presented phenotype disturbances. Both karyotypes were 46 XY. A total resection of the female sexual organs and testicles was performed in both patients, and the mass was removed in the second case. The tumoral degeneration of the intra-abdominal testicles in this syndrome is found in similar proportion to the simple cryptorchid testicles. Our second case is the tenth one of a testicular tumor in pseudohermaphroditism by persistent mullerian ducts to be reported in the literature.

A fifty-year-old male patient with bilateral cryptorchidism and abdominal mass due to a large seminoma was found to have persistent mullerian duct derivatives: uterus and fallopian tubes. The patient underwent total hysterosalpingectomy and bilateral intra-abdominal orchidectomy of a seminoma and testes. He was given maintenance testosterone and pelvic irradiation.

The records of 170 patients with unilateral and 18 patients with bilateral Wilms tumor and 6 patients with congenital mesoblastic nephroma were reviewed for abnormalities of the external genitalia. There were 4 patients with cryptorchism, 1 with hypospadias, 1 with mixed gonadal dysgenesis, and 3 with male pseudohermaphroditism. Of the group, these 9 patients had earlier symptoms; 6 of them were under two years old. Five patients (27.7 %) with bilateral Wilms tumors had external genital anomalies in contrast to only 4 (2.3 %) of those with unilateral tumors. One of the 9 children with genital anomalies had unilateral congenital mesoblastic nephroma; the others had Wilms tumor. In all cases the histologic subtypes were unusual. These observations substantiate the previously reported association between external genital abnormalities and Wilms tumor and also represent a somewhat higher than expected incidence. The children with this association are remarkable for the high frequency of a particular histologic type of tumor and for the high incidence of bilaterality. The high incidence of Wilms tumors in the male pseudohermaphrodite population presented suggests that such patients should be monitored for development of renal tumors.

The occurrence of tumors was determined in 157 patients with disorders of sexual differentiation at a major pediatric hospital from 1960 to 1980. Gonadoblastoma developed in 2 of the 4 patients with mixed gonadal dysgenesis (MGD) who had not had bilateral gonadectomy; this indicates the need for early gonadectomy in such cases. Gonadal embryonal carcinoma developed in 1 child with Turner's syndrome (1 of 71). Four cases of nephroblastoma occurred, 1 in a child with MGD (1 of 18) and 3 in male pseudohermaphrodites (3 of 35). The nature of the defect linking male pseudohermaphroditism with Wilms tumor remains to be established.