OBJECTIVETo investigate the characteristics, diagnosis, and treatment of ovotesticular disorder of sex development (OT-DSD).

METHODSWe retrospectively analyzed 2 cases of OT-DSD treated in our hospital. The patients were 19 and 15 years old, respectively, and both received systematic physical examination and examinations of the karyotype, sex hormone, adrenocorticotropic hormone (ACTH), color Doppler ultrasonography, urethrocystoscopy, and human chorionic gonadotropin (HCG) test. Under the laparoscope, we performed surgical gonad exploration, gonadectomy, and vulvar orthopedics. Intraoperative exploration and pathology confirmed true hermaphroditism in both cases, with sex selection as female. One underwent laparoscopic resection of the ovotestis, and the other removal of the testis with the ovarian tissue reserved.

RESULTSThe patients were followed up for 12 months postoperatively, which found no abnormality in either the vulvas or the genital glands.

CONCLUSIONSurgical exploration of the gonad is the only method for the diagnosis of OT-DSD and sex selection is the key to treatment. Laparoscopic surgical exploration of the gonad and vulvar orthopedics are the first treatment options.

Adolescent ; Chorionic Gonadotropin ; Female ; Gonadal Steroid Hormones ; Humans ; Karyotype ; Laparoscopy ; Male ; Ovary ; Ovotesticular Disorders of Sex Development ; diagnosis ; surgery ; Retrospective Studies ; Testis ; surgery ; Young Adult

OBJECTIVETo introduce and evaluate the technical feasibility and anatomical and functional outcomes of one-stage vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis.

METHODSWe retrospectively reviewed our experiences with 17 patients with Mayer- Rokitansky-Kuster-Hauser syndrome treated with primary surgery from September 2010 to April 2013. All patients underwent vaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis. We describe the details of this technique, observe the time of epithelization and evaluate the long- term anatomical, functional, and sexual outcomes.

RESULTSThe time of epithelization was 13 d (range: 12-15 d). At a mean follow-up of 15 months (range: 12-24 months), the mean postoperative dependence on the vaginal stent was 11.7 ± 1.64 months (range: 9-15 months), the mean depth of the neovagina was (9.0 ± 0.94) cm (range: 7-11 cm), the mean circumference was (12.3 ± 1.36) cm (range: 10.0-14.5 cm) and the mean volume was (105 ± 10) ml (range 85-120 ml). The mean female sexual function index score of the 12 sexually active patients was 29.5 ± 2.6. No spouse reported discomfort during intercourse.

CONCLUSIONSVaginoplasty with autologous buccal micromucosa combined with acellular allogenic dermis is an effective and feasible approach for patients with Mayer-Rokitansky-Kuster-Hauser syndrome. The procedure has satisfactory long-term anatomical and functional results. The use of the acellular allogenic dermis is limited by the high price and the potential infection.

46, XX Disorders of Sex Development ; surgery ; Acellular Dermis ; Coitus ; Congenital Abnormalities ; surgery ; Feasibility Studies ; Female ; Humans ; Mouth Mucosa ; transplantation ; Mullerian Ducts ; abnormalities ; surgery ; Postoperative Period ; Reconstructive Surgical Procedures ; methods ; Retrospective Studies ; Vagina ; abnormalities ; surgery

BACKGROUNDIn the past several decades we have seen multiple advances in the reconstruction for girls born with vaginal agenesis. This study aimed to evaluate the technical feasibility, anatomical and functional outcomes of one-stage laparoscopic and gasless laparoscopic vaginoplasty with sigmoid colon for the patients of vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome).

METHODSWe did a retrospective review of a total of 150 women with Mayer-Rokitansky-Kuster-Hauser syndrome treated at Beijing Anzhen Hospital, Capital Medical University from March 2006 to August 2010. The patients were divided into the CO2 pneumoperitoneum laparoscopic group and the abdominal wall lift of gasless laparoscopic group. Sigmoid colon vaginoplasty approaches were performed in all of the patients. The surgical techniques, perioperative results, complications, anatomical and functional outcomes of vaginoplasty were recorded.

RESULTSAll procedures were performed successfully. Significant differences in the operative time and intraoperative blood loss existed in the laparoscopic vaginoplasty group compared with the gasless laparoscopic vaginoplasty group. The patients who underwent sigmoid colon vaginoplasty had good cosmetic results without the problem of excessive mucus production. The postoperative complications were minimal. During a mean follow-up of 15.6 months, no stenosis or shrinkage was encountered. The subjective sexual satisfaction rate with the surgical outcomes in all patients was 83.3%.

CONCLUSIONSLaparoscopic or gasless laparoscopic vaginoplasty with sigmoid colon are effective and feasible approaches for women with congenital vaginal agenesis. The procedures have satisfactory anatomical and functional results.

46, XX Disorders of Sex Development ; surgery ; Abnormalities, Multiple ; surgery ; Adult ; Colon, Sigmoid ; surgery ; Congenital Abnormalities ; Female ; Humans ; Kidney ; abnormalities ; Laparoscopy ; methods ; Mullerian Ducts ; abnormalities ; Pneumoperitoneum ; Postoperative Complications ; Retrospective Studies ; Somites ; abnormalities ; Spine ; abnormalities ; Uterus ; abnormalities ; surgery ; Vagina ; abnormalities ; surgery ; Vaginal Diseases ; surgery ; Young Adult

We evaluated the long-term results of feminizing genital reconstruction in patients with genital ambiguity with high vaginal confluence. The medical records of 10 consecutive patients with ambiguous genitalia and high vaginal confluence who underwent feminizing genital reconstruction from 1996 to 2007 were reviewed. Seven patients had congenital adrenal hyperplasia, one had mixed gonadal dysgenesis, one had partial androgen insensitivity, and one had 5-alpha reductase deficiency syndrome. Median age at operation was 21 months (range, 2-47 months). Median follow up was 7.7 yr. Of the six patients who underwent feminizing genital reconstruction with the Gonzalez method, three had good results. Of the other three patients, one had a urethrovaginal fistula and underwent fistula repair 9 yr after, one had distal vaginal stenosis and underwent revision vaginoplasty 9 yr after, and one had a urethrovaginal fistula and urethral stricture. The patient with urogenital mobilization had persistent urogenital sinus. Feminizing genitoplasty using the Gonzalez method showed good long-term results in patients with ambiguous genitalia and Congenital adrenal hyperplasia. The procedure is less invasive than other approaches and results in excellent cosmetic outcomes; and complications can be corrected by relatively simple procedures.
Child, Preschool ; Disorders of Sex Development/*surgery ; Female ; Feminization/*surgery ; Follow-Up Studies ; Humans ; Infant ; Male ; Penis/abnormalities ; *Reconstructive Surgical Procedures ; Urethral Stricture/surgery ; Urogenital System/surgery ; Vagina/*surgery

OBJECTIVETo evaluate the therapeutic effect of laparoendoscopic single-site surgery (LESS) for treatment of male pseudohermaphroditism.

METHODSA 17-year-old patient with male pseudohermaphroditism and a female social sex was admitted. According to the request by the patient and the relatives for a female gender, LESS vaginoplasty and cryptorchidectomy were performed using a single multilumen port inserted through a 2.5 cm incision below the umbilicus, followed by reconstruction of the perineal region by open surgery.

RESULTSThe total operative time was 7 h, and the LESS procedure lasted for about 3.5 h. No other port incision was needed. The estimated intraoperative blood loss was 400 ml. No electrolyte or metabolic acid-base balance disorders were observed perioperatively. In the follow-up examination at 6 months after the operation, the reconstructed vagina healed smoothly without obvious contraction or fixation failure, and the perineal region showed good appearance.

CONCLUSIONWith minimal invasiveness, LESS surgery produces good cosmetic effect and allows rapid postoperative recovery, thus may become a promising alternative to the management of pseudohermaphroditism.

46, XY Disorders of Sex Development ; surgery ; Adolescent ; Female ; Humans ; Laparoscopy ; methods ; Male ; Reconstructive Surgical Procedures ; methods ; Vagina ; surgery

Abnormalities, Multiple ; genetics ; metabolism ; pathology ; surgery ; Actins ; metabolism ; Adolescent ; Chromosome Inversion ; Chromosomes, Human, Y ; Diagnosis, Differential ; Disorders of Sex Development ; genetics ; pathology ; Humans ; Hypospadias ; pathology ; surgery ; Male ; Mullerian Ducts ; abnormalities ; metabolism ; pathology ; surgery ; Neprilysin ; metabolism ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism ; Syndrome

46, XY Disorders of Sex Development ; complications ; genetics ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Middle Aged ; Ovarian Neoplasms ; pathology ; surgery ; Sex Chromosomes ; Sex Cord-Gonadal Stromal Tumors ; pathology ; surgery

OBJECTIVETo investigate the diagnosis and treatment of ovotesticular disorders of sex development (DSD) in children.

METHODSWe reviewed the clinical data of 9 cases of ovotesticular DSD admitted in our department from 1988 to 2007.

RESULTSThe patients ranged in age from 9 months to 9 years, 7 raised as males and 2 as females. As for the karyotype, 4 cases were 46,XX, 2 were 46,XX/46,XY, 1 was 46,XY, and the other 2 had no karyotype data. All of them presented with obscure external genitalia: perineal or penoscrotal hypospadias with or without cryptorchidism in males and hypertrophy of the clitoris in females. They were diagnosed with ovotesticular DSD by gonad biopsy and underwent genitoplasty.

CONCLUSIONThe gender assignment of the ovotesticular DSD patient was chiefly based on the development of external genitalia, dominant gonad, karyotype and the parent's will. Laparoscopic technology is recommended in gonad biopsy and orchiopexy during the treatment of ovotesticular DSD.

Child ; Child, Preschool ; Disorders of Sex Development ; diagnosis ; surgery ; Female ; Humans ; Infant ; Laparoscopy ; Male ; Retrospective Studies ; Sexual Development

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.
Body Fluids ; Cataract ; Cholestadienols ; Cholesterol ; Cleft Lip ; Dehydrocholesterols ; Disorders of Sex Development ; Estriol ; Heart Diseases ; Humans ; Infant ; Infant, Newborn ; Learning ; Male ; Oxidoreductases ; Oxidoreductases Acting on CH-CH Group Donors ; Palate ; Parturition ; Plasma ; Polydactyly ; Pulmonary Artery ; Reference Values ; Sepsis ; Smith-Lemli-Opitz Syndrome ; Thoracic Surgery

Persistent Muellerian duct syndrome (PMDS) is a rare form of male pseudohermaphrodism without the feature of ambiguous genitalia. We present a case of PMDS with transverse testicular ectopia (TTE).
Abnormalities, Multiple ; Adult ; Disorders of Sex Development ; pathology ; surgery ; Hernia, Inguinal ; surgery ; Humans ; Male ; Mullerian Ducts ; abnormalities ; surgery ; Testicular Hydrocele ; surgery ; Testis ; abnormalities ; surgery