Francisco Tibor Dénes

Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management.

Ten male pseudohermaphrodites with 17 beta-hydroxysteroid dehydrogenase 3 (17 beta-HSD3) deficiency were evaluated in 1 clinic with an average follow-up of 10.1 years. The diagnoses were made by demonstrating low to normal serum testosterone levels, high androstenedione levels, and high ratios of serum androstenedione to testosterone in the basal state or after treatment with human chorionic gonadotropin. The molecular features of the underlying mutations were identified in all 7 families. Two additional males in the same families are believed to be affected on the basis of history obtained from family members. All of the 46,XY individuals in these families were registered at birth and raised as females (despite the presence of ambiguous genitalia in all or most), and all virilized after the time of expected puberty due to a rise in serum testosterone to or toward the normal male range. The age at diagnosis varied from 4 to 37 years. Ten individuals were studied by the same psychologist, and change of gender role (social sex) from female to male occurred in 3 subjects and in the 2 presumed affected subjects not studied. The individual with the highest serum testosterone level maintained female sexual identity, and in 2 families some of the affected males changed gender role and others did not. Thus, while androgen action plays a role in the process, additional undefined psychological, social, and/or biologic factors must be determinants of gender identity/role behavior. Management of the 7 individuals who chose to maintain female sex roles included castration, clitoroplasty, vaginal enlargement procedures when appropriate, treatment of hirsutism, cricoid cartilage reduction, and estrogen replacement. Three of the 7 are married (2 twice), 1 is involved in a long-term heterosexual relationship, 1 is engaged to be married, and the other 2 are not married and not believed to be sexually active. The 3 subjects who changed gender role behavior to male underwent hypospadias repair, and 1 was given supplemental testosterone therapy. One of these men is divorced, and the other 2 (aged 29 and 35 years) are unmarried. The diagnosis in 8 of these subjects was made after the time of expected puberty; it is unclear whether the functional and social outcomes would have been different if the diagnosis had been made and therapy begun earlier in life.

Laparoscopic Adrenal Surgery in Children

PURPOSE The laparoscopic approach to the adrenal gland was first reported in 1992. Since then, more than 400 studies have been published, comprising hundreds of adults. There are few reports of laparoscopic adrenalectomy in the pediatric population. We reviewed our experience with laparoscopic adrenal surgery in children. MATERIALS AND METHODS Laparoscopic adrenalectomy was performed in 8 girls and 5 boys 15 years or younger (mean age 6.3) between December 1994 and August 2001. The clinical diagnosis before surgery was virilizing tumor in 5 cases, nonfunctioning solid adrenal tumor in 3, Cushings syndrome in 2, pheochromocytoma in 2 and Cushings pituitary disease in 1. Unilateral adrenal lesions were 15 to 80 mm. at the longest axis (mean 41.4) on computerized tomography. RESULTS Two of the 13 procedures (15.4%) were converted to open surgery. No deaths occurred. No patients presented with postoperative complications. Average operative time in unilateral nonconverted procedures was 107 minutes (range 25 to 195). Blood transfusion was required in 1 case (7.7%). Average hospital stay was 5.5 days (range 1 to 17). Average postoperative followup was 16 months (range 1 to 60). The final clinicopathological diagnosis was virilization in 4 cases, Cushings syndrome in 2, pheochromocytoma in 2, neuroblastoma in 2, Cushings pituitary disease in 1, teratoma in 1 and primary carcinoma in 1. CONCLUSIONS Laparoscopic adrenalectomy is feasible and shows positive results in select pediatric patients.

Laparoscopic Diagnosis and Treatment of Nonpalpable Testis

INTRODUCTION Treatment of the cryptorchid testicle is justified due to the increased risk of infertility and malignancy as well as the risk of testicular trauma and psychological stigma on patients and their parents. Approximately 20% of cryptorchid testicles are nonpalpable. In these cases, the videolaparoscopic technique is a useful alternative method for diagnosis and treatment. MATERIALS AND METHODS We present data concerning 90 patients submitted to diagnostic laparoscopy for impalpable testicles. Forty-six patients (51.1%) had intra-abdominal gonads. In 25 testicles of 19 patients, we performed a two stage laparoscopic Fowler-Stephens orchiopexy. The other 27 patients underwent primary laparoscopic orchiopexy, in a total of 29 testicles. RESULTS We obtained an overall 88% success rate with the 2 stage Fowler-Stephens approach and only 33% rate success using one stage Fowler-Stephens surgery with primary vascular ligature. There was no intraoperative complication in our group of patients. In the laparoscopic procedures, the cosmetic aspect is remarkably more favorable as compared to open surgeries. Hospital stay and convalescence were brief. CONCLUSIONS In pediatric age group, the laparoscopic approach is safe and feasible. Furthermore, the laparoscopic orchiopexy presents excellent results in terms of diagnosis and therapy of the impalpable testis, which is why this technique has been routinely incorporated in our Department.

Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development

PURPOSE We evaluated the results of masculinizing genitoplasty in a large cohort of patients with disorders of sex development treated at a single public tertiary center. MATERIALS AND METHODS We evaluated 52 patients with 46,XY and 7 with 46,XX disorders of sex development with proximal hypospadias and genital ambiguity reared as males who had undergone surgery between 1965 and 2008. Mean +/- SD followup was 14.1 +/- 9.2 years and median age at last examination was 22 years, with 38 patients having reached adulthood. Morphological result and urinary stream were evaluated by a physician. Urinary and sexual symptoms, and satisfaction with surgical results were assessed by questionnaire. RESULTS Mean penile length at diagnosis was compared between 46,XY patients and showed that those with 5alpha-reductase 2 deficiency had the shortest penile length (-5.4 +/- 1.2 SD). At the last clinical evaluation following surgical and hormonal treatment mean +/- SD penile length in 38 adults was 7.5 +/- 2.1 cm (range 4 to 12), corresponding to -4.3 +/- 1.3 SD (-6.5 to -1.5). All but 2 patients had penile length less than -2 SD. At that time mean penile length remained shorter in patients with 5alpha-reductase 2 deficiency (-5.4 +/- 1 SD) compared to those with testosterone production deficiency or indeterminate disorders of sex development (p <0.05). There was no statistical difference between mean penile length before and after treatment in all etiological groups (p >0.05). Morphological results were good in 43% of patients, fair in 54% and poor in 3%. The most common complications were urethral fistula (51%) and urethral stenosis (22%). Dribbling after voiding was the most frequent urinary symptom. Satisfaction with surgical results was reported by 89% of patients. Among adults 87% were sexually active, with 64% reporting normal sexual activity. CONCLUSIONS Most patients with 46,XY disorders of sex development were satisfied with long-term results of masculinizing genitoplasty, although specific complaints about small penile length, sexual activity and urinary symptoms were frequent. New surgical approaches should be developed to ensure full satisfaction in adulthood among patients with disorders of sex development.

Anatomical and functional outcomes of feminizing genitoplasty for ambiguous genitalia in patients with virilizing congenital adrenal hyperplasia

UNLABELLED The ideal surgical technique and appropriate age for performing feminizing genitoplasty are debatable, and few long-term outcome studies have been reported. PURPOSE To report a retrospective study on anatomical and functional outcomes of feminizing genitoplasty in patients with virilizing congenital adrenal hyperplasia. METHODS We selected 34 patients (mean age = 3.4 +/- 2.5 yr) with genital ambiguity classified according to Prader stage. Follow-up ranged from 2 to 16 years. Clitoral length ranged from 1.9 to 5.0 cm; 28 patients had a single perineal orifice, and 6 had a double orifice. The surgical technique included clitorovaginoplasty in a single procedure and was carried out before 2 years of age in 18 patients. Clitoroplasty was performed with glans preservation in all patients. Blood supply was exclusively maintained by the frenular pedicle in 97% of the cases, whereas clitoral dorsal nerves and vessels were preserved in the remaining 3%. The opening of the urogenital sinus was performed using either the Y-V perineal flap procedure (25 patients) or the cut-back incision procedure (8 patients). RESULTS Good morphological and functional results were achieved in 68% of the patients; 21% of the patients had surgical complications, such as incision bleeding (2 cases), glans necrosis (1 girl with Prader V), and vaginal introitus stenosis (4 cases). Three of the latter underwent dilation with acrylic molds in the post-pubertal period with good functional results. CONCLUSIONS We conclude that single-stage feminizing genitoplasty consisting of vulvoplasty, clitoroplasty, and Y-V perineal flap produced good cosmetic and functional results in virilized girls with congenital adrenal hyperplasia, with few complications. In addition, this surgical approach prevented the need for neovaginaplasty even in patients with high vaginal insertion.

Laparoscopic nephrectomy for Wilms’ tumor

The role of minimally invasive surgery for the treatment of pediatric urological tumors has been limited to biopsies and resection for small neuroblastomas and benign tumors. The purpose of this study is to present the experience of a Brazilian group pioneering laparoscopic nephrectomy for Wilms’ tumor. A total of 15 children with unilateral non-metastatic Wilms’ tumor were preoperatively treated with vincristine and actinomycin D, and afterwards were submitted to laparoscopic nephrectomy and lymph node sampling. A Veress needle umbilical punction was performed and a four-trocar transperitoneal approach was used. The tumor was extracted inside a plastic bag and without morcellation through a Pfannenstiel incision. In all 15 patients the tumor was completely removed, as well as lymph node samples and no ruptures occurred. A fibrous capsule involved the tumor, making the dissection easy to perform. Intraoperative bleeding was minimal. The postoperative course was free of complications and all the patients were discharged early. No recurrences or long-term complications have been detected in 7–61 months or more of follow-up. We conclude that laparoscopic nephrectomy for Wilms’ tumor is a feasible and safe procedure in a selected group of children after chemotherapy. It reproduces all the steps of the open surgical approach required to treat this tumor, with the advantages of a short hospital stay and cosmetically more acceptable incisions.

Laparoscopic management of intersexual states

Laparoscopy has gained acceptance as the ideal method of surgical treatment of the internal [figure: see text] genital organs in patients with intersex disorders. The intersexual states for which laparoscopy is needed are female and male pseudohermaphroditism, true hermaphroditism, and Turners syndrome. In these patients, the indications for laparoscopy are the removal of normal gonads and ductal structures that are contrary to the assigned gender and the removal of dysgenetic gonads that are nonfunctional and that present potential for malignancy. In addition to being a minimally invasive surgery, one of the main advantages of this method is the lack of scars, a fact much appreciated by patients and their parents. Generally, gonadectomy is a straightforward operation because the gonads present with an accessible pedicle. Laparoscopic orchidopexy has been standardized and can be performed in patients in whom the testis must be relocated to the scrotum. The removal of ductal structures is also easily performed in most cases, whereas hysterectomy with resection of the vagina may present some difficulties owing to the location of these structures. In patients with a long vaginal component of the urogenital sinus, the distal segment must be removed by a retrograde perineal access, usually performed simultaneously with genitoplasty. Endocrinologists must be aware of the application of this method of treatment in intersex patients, and urologists proficient in laparoscopic techniques must extend their field of work in this area.

The laparoscopic management of intersex patients : the preferred approach

In the worlds largest series of patients with intersex treated by laparoscopy, authors from Sao Paulo found that this technique allowed easy identification and removal of gonads. They also found that other organs could be removed and genitoplasty performed.

Laparoscopic pyeloplasty in children: Is the outcome different in children under 2 years of age?

PURPOSE To report the outcomes of a series of children younger than 2 years with ureteropelvic junction obstruction (UPJO) who underwent laparoscopic pyeloplasty (LP), compared to children older than 2 years. PATIENTS AND METHODS Twenty-three children (18 male) with UPJO underwent 24 Anderson-Hynes transperitoneal LPs between March 2003 and July 2007. The diagnosis of UPJO was confirmed on renal sonography and diuretic renogram. Nine children were younger than 2 years (Group 1) and 14 were older (Group 2). One child had bilateral UPJO and underwent two non-simultaneous procedures. All children were investigated with postoperative diuretic renogram and renal sonography, and the results were statistically analysed. RESULTS LP was feasible without conversions or intraoperative complications in all 24 cases. Median age in Groups 1 and 2 was 11 months (4-24) and 74 months (27-204), respectively, (P<0.00001). No differences were found between the groups regarding median operative time, complications, technical difficulties, discharge home and follow-up. All patients in both groups experienced resolution of symptoms or obstruction. CONCLUSIONS The LP in children younger than 2 years is highly successful with a low-rate of complications, and has the same outcomes as in older children.

Laparoscopic adrenalectomy in children

PURPOSE Reporting on the laparoscopic technique for adrenal disease in children and adolescents has been limited. We review here our experience with laparoscopic adrenal surgery in children. PATIENTS AND METHODS 19 laparoscopic unilateral adrenalectomies were performed in 10 girls and 7 boys (mean age 3.9 years) during 1998-2011. The clinical diagnosis before surgery was virilizing tumor (n = 8), pheochromocytoma (n = 3), nonfunctioning solid adrenal tumor (n = 3), mixed adrenocortical tumor (n = 2), cystic adrenal mass (n = 1). Unilateral adrenal lesions were 20-65 mm at the longest axis on computerized tomography (12 right side, 7 left side). RESULTS The final clinicopathological diagnosis was cortical adenoma (n = 9), pheochromocytoma (n = 3, bilateral in two), neuroblastoma (n = 1), ganglioneuroblastoma (n = 1), ganglioneuroma (n = 1), adrenocortical carcinoma (n = 1), benign adrenal tissue (n = 1). Average operative time was 138.5 min (range 95-270). Blood transfusion was required in one case (5%). No conversion to open surgery was required and no deaths or postoperative complications occurred. Average hospital stay was 3.5 days (range 2-15). Average postoperative follow-up was 81 months (range 2-144). Two contralateral metachronic pheochromocytomas associated with von Hippel-Lindau syndrome occurred, treated with partial laparoscopic adrenalectomy (one without postoperative need of cortisone replacement therapy). CONCLUSIONS Laparoscopic adrenalectomy is a feasible procedure that produces good results. It can be used safely to treat suspected benign and malignant adrenal masses in children with minimal morbidity and short hospital stay.