Pierre Mouriquand

Summary of Consensus Statement on Intersex Disorders and Their Management

Advances in understanding of genetic control of sexual determination and differentiation, improvements in diagnostic testing and surgical genital repair, and the persistent controversies inherent to clinical management were all compelling factors that led to the organization of an international consensus conference. The goals were to acknowledge and discuss the more controversial issues in intersex management, provide management guidelines for intersex patients, and identify and prioritize questions that need additional investigation. This is a summary statement. Advances in molecular genetic causes of abnormal sexual development and heightened awareness of the ethical and patient-advocacy issues mandate reexamination of existing nomenclature for patients with intersex.1 Terminology such as “pseudohermaphroditism” is controversial, potentially pejorative to patients,2 and inherently confusing. Therefore, the term “disorders of sex development” (DSD) is proposed to indicate congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex. Additional rationale for new classification is the need for modern categorization to integrate the modern molecular genetic aspects, to maximize precision when applying definitions and diagnostic labels,3 and to meet the need for psychologically sensitive yet descriptive medical terminology. Nomenclature should be flexible enough to incorporate new information, robust enough to maintain a consistent framework, use descriptive terms, reflect genetic etiology, accommodate phenotypic variation spectrum, and be useful for clinicians, scientists, patients, and families. Hence, we propose a new classification (see “Consensus Statement on Management of Intersex Disorders”4 in this months issue of Pediatrics Electronic Edition ). Three traditionally conceptualized domains of psychosexual development are gender identity (ones self-representation [ie, male or female]), gender role (sexually dimorphic behaviors within the general population, such as toy preferences, aggression, and spatial ability), and sexual orientation (direction[s] of erotic interest). Gender dissatisfaction denotes unhappiness with assigned sex and may result in gender self-reassignment. Psychosexual developmental factors relate to parental psychopathology, parent-child … Address correspondence to Peter A. Lee, MD, PhD, Department of Pediatrics, MC-H085, Penn State College of Medicine, Milton S. Hershey Medical Center, Box 850, 500 University Dr, Hershey, PA 17033-0850. E-mail: plee{at}psu.edu

Hypospadias dilemmas: a round table.

Department of Pediatric Urology, University of Texas, Southwestern Medical Center and Children’s Medical Center, Harry Hines Boulevard, Dallas, Tx 75390, USA Department of Urology, Federal University of Sao Paulo, Rua Maestro Cardim, 560/CJ. 215, 01323-000 Sao Paolo, Brazil Department of Urology, Paediatric Urology and Urogenital Reconstruction, Ghent University Hospital, De Pintelaan 185, B-9000 Gent, Belgium Department of Paediatric Urology, Hopital Mere-Enfants, Groupement Hospitalier Est, 59 Boulevard Pinel, 69500 Bron, France

Long‐term results of bladder neck reconstruction for incontinence in children with classical bladder exstrophy or incontinent epispadias

In the paediatric section this month several important issues are addressed. The authors from Lyon describe the results of bladder neck reconstruction for incontinence in children with bladder exstrophy and incontinent epispadias. They indicate the unpredictability of bladder neck reconstruction and discuss the results of the other techniques used for urinary continence.

Outcome of severe hypospadias repair using three different techniques

OBJECTIVE To compare the outcomes of three different urethroplasty techniques (onlay, buccal mucosa, Koyanagi type I) used in the reconstruction of severe hypospadias. PATIENTS AND METHODS Over 10 years (1997-2007), 300 severe hypospadias cases were treated with a mean follow up of 2 years (1-105 months); 203 were operated by the same surgeon of whom 184 completed follow up. Three main techniques were used according to the quality of the urethral plate: onlay urethroplasty (133), buccal graft urethroplasty (25) and Koyanagi type I (26). The mean age at surgery was 36 months (8-298); 76 required preoperative androgen stimulation (onlay 37, buccal 11, Koyanagi 26); 18 required a corporoplasty to straighten the penis (onlay 13, buccal 3, Koyanagi 2). RESULTS Thirty-eight onlay (28.5%); 14 buccal (56%); 16 Koyanagi (61.5%) urethroplasties had a complication. The fistula rate was 15% for the onlay group; 32% for the buccal mucosa group; 19.2% for the Koyanagi cases. The dehiscence rate was, respectively, 11.3%, 20% and 42.3%. The stricture rate was, respectively, 1.5%, 20% and 34.6%. Urethrocele was found in seven Koyanagi patients. Final functional and cosmetic results were satisfactory in 126/133 (94.7%) onlay, 20/25 (80%) buccal and 14/26 Koyanagi (53.8%) urethroplasties. Primary cases had better results (89%) than redo cases (75.9%). Patients submitted to preoperative androgen therapy developed more complications (onlay: 40.5% vs 23.9%; buccal: 70% vs 43.7%). CONCLUSION Two striking results are the low number of severe hypospadias cases requiring an additional corporoplasty, and the increased complication rate found in androgen-stimulated patients. The excellent results of the onlay procedure could be related to the use of dorsal preputial tissue, which in hypospadias is characterized by a well-balanced protein platform compared to the ventral tissues.

Quality of life for adult women born with bladder and cloacal exstrophy: A long-term follow up

OBJECTIVE To assess the quality of life of 23 female patients over 18 years of age treated and followed in the same institution. METHODS Fifty questions were sent to this group of patients covering their uro-gynaecological history, education and profession, social life and related psychological issues, sexual life and fertility. All replies were kept anonymous. RESULTS Seventeen patients (74%) replied. Urine incontinence at various degrees was found in 65%. Genital prolapse was reported in 29.5%. Students accounted for 41%; 59% were actively working with a satisfactory professional life in 82% of cases. Seventy-six per cent did not consider that exstrophy affected their professional life, and 76% were happy with their social life. Psychological distress was reported by 41%, and the symptoms are detailed. Sixty-four per cent were married or had a stable partner. Seventy-six per cent were active sexually, all declaring heterosexual relations. Eighty-eight per cent had periods. Four pregnancies were reported and morbidity during gestation is described. All children were born by Caesarean section and were normal. These results are discussed and compared with the literature. CONCLUSION Despite many hurdles, this group of patients can expect a subnormal social, family and professional life. Urinary incontinence and poor body image were the most important factors altering quality of life.

Original Koyanagi urethroplasty versus modified Hayashi technique: Outcome in 57 patients

OBJECTIVE To compare outcomes of the original Koyanagi technique with the Hayashi modification in severe hypospadias, i.e. hypospadias with a division of the corpus spongiosum located behind the penile midshaft associated with marked hypoplasia of the ventral aspect of the penis and a non-preservable urethral plate. Choice of technique for treating severe hypospadias is discussed. PATIENTS AND METHODS Twenty-six patients (group I) were operated in Lyon using the original Koyanagi procedure and 31 (group II) underwent a modified Hayashi procedure in Paris. Most patients received preoperative androgenic stimulation. Mean follow up was 25 months (group I) and 34 months (group II). RESULTS Sixteen patients (61.5%) in group I and 19 (61.3%) in group II developed complications leading to 21 additional procedures in each group. Urethral dehiscence was found in 11/26 patients in group I (42.3%), and in 6/31 patients in group II (19.3%); fistulae were respectively found in 5/26 (19.2%) and 12/31 (38.7%), and stenosis in 9/26 (34.6%) and 5/31 (16.1%) patients. Urethrocele was found in 7/26 (26.9%) and 5/31 (16%) patients, respectively. Twelve (group I) and 7 (group II) patients are awaiting re-operation. CONCLUSION Although the complication rate is quite similar between the original and the modified Koyanagi procedure, the Hayashi technique seems to provide a better distal blood supply to the reconstructed urethra.

UMBILICAL RECONSTRUCTION IN PATIENTS WITH EXSTROPHY: THE KANGAROO POUCH TECHNIQUE

PURPOSE Before the current attitude of umbilical preservation and transposition at bladder closure in patients with exstrophy the navel was systematically removed. Many patients without an umbilicus complain about this deformity. We report a simple technique of umbilical reconstruction using a rectangular skin flap fashioned as a kangaroo pouch. MATERIALS AND METHODS Four patients 10 to 20 years old with exstrophy underwent this procedure. A small cutaneous pouch was fashioned by folding a vertical rectangular skin flap and the pouch was anchored deeply to the rectus fascia. A compressive dressing was packed into the new umbilicus and left in place for several days. RESULTS The 4 patients have an excellent cosmetic result with adequate location, good morphology and sufficient depth at a mean followup of 8 months (range 6 to 11). CONCLUSIONS Our technique of umbilical reconstruction is easy to perform and provides good mid-term cosmetic results. This technique is particularly adapted for patients with exstrophy who often require external genital reconstruction at the same time.

TRANSURETEROURETEROSTOMY IN CHILDHOOD AND ADOLESCENCE: LONG-TERM RESULTS IN 69 CASES

PURPOSE We analyzed a series of 69 transureteroureterostomies to evaluate long-term results and specify current indications. MATERIALS AND METHODS Between 1969 and 1998 transureteroureterostomy was performed in 32 females and 37 males with a mean age of 8.6 years. Surgery was done to avoid repeat or difficult ureteral reimplantation after multiple failed procedures in 22 cases and to create a continent ureteral conduit for intermittent catheterization in 23. Other indications included undiversion in 8 cases, ureterocystoplasty in 6, diversion in 4, the Kropp procedure in 3, massively dilated megaureter in 2 and ureteral necrosis in 1. Of the 69 patients 6 were lost to followup and 63 were followed at least 1 year (median 6). RESULTS A total of 63 patients were regularly monitored by clinical observation and morphological investigation, including ultrasound, excretory urography and cystography. In 50 cases (79.4%) results were good with no upper urinary tract dilatation. All initially normal donor ureters remained normal. Of 51 initially dilated donor ureters 40 (78.4%) improved or returned to normal, while 20 of 27 initially dilated recipient ureters (74.1%) improved or returned to normal. Serious complications in 3 cases (4.3%) involved anastomotic leakage, ischemic stenosis of the common ureteral trunk and progressive deterioration of function in 1 kidney requiring nephrectomy 3 years postoperatively. Reoperation was successful in the former 2 cases. CONCLUSIONS With careful attention to technique transureteroureterostomy represents a safe and reliable procedure with well-defined indications in pediatric urology.

Desafíos quirúrgicos de las anomalías del desarrollo sexual

Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and feminization are reviewed with their progress and their problems. The tools of decision used to assign a gender in some newborns with complex DSD are discussed showing that at the dawn of the third millenium, one still does not know why a boy is a boy, and a girl is a girl.

Long-term outcome of hypospadias surgery: current dilemmas.

Purpose of review To list the main questions and dilemmas raised by hypospadias management and its long-term evaluation. Recent findings Criteria of evaluation of hypospadias have changed in terms of anatomical description and biological screening. A better understanding of the causative and epidemiological aspects of the development anomalies of the genital tubercle has led to a more adjusted biological and surgical approach. The place of preoperative biological screening, preoperative hormonal stimulation and the choice of urethroplasty are the three main fields of discussion between hypospadiologists. Evaluation of outcome is the critical point as there are no current consensual protocols, and long-term results are often lacking as well as psychological evaluation. Summary Efforts are made to coordinate the management and evaluation of disorders of sex development (DSD) patients and more specifically hypospadias patients. National, European (EuroDSD) and international (consensus conferences) aim at finding common tracks to improve the quality of treatment and follow-up.