34th ESPU Congress in Naples, Italy

S17: GENITALIA

Moderators: Barbara Ludwikovski (Germany), Marie Andersson (Sweden)

ESPU Meeting on Friday 19, April 2024, 12:20 - 13:10


12:20 - 12:23
S17-1 (OP)

PEDIATRIC OBESITY AND DEVELOPMENT OF THE PENIS AND TESTIS

Jae Min CHUNG 1, Sang Don LEE 1 and Won Yeol CHO 2
1) Pusan National University Children's Hospital, Urology, Yangsan, REPUBLIC OF KOREA - 2) Dong-A University Hospital, Urology, Busan, REPUBLIC OF KOREA

PURPOSE

Pediatric obesity is increasing in many countries as socioeconomic status improves and the consumption of high calorie food increases. Thus, effect of obesity on genital development is an important topic. This study aimed to determine relationships of BMI with penile parameters and testicular volume in pediatric patients without penile or testicular abnormalities.

MATERIAL AND METHODS

Data from 1,499 pediatric patients from our center were analyzed. Patients with penile or testicular abnormalities were excluded. Their age ranged from 2 to 18 years. These patients were divided into two groups based on their BMI: normal BMI (< 85th percentile) and high BMI (≥ 85th percentile). Factors used in analysis included age, anthropometric indicators, baseline penile length (BPL), stretched penile length (SPL), penile circumference, and average testicular volume. These same parameters were analyzed for different age groups.

RESULTS

Pediatric patients with normal BMI showed longer BPL and SPL than patients with high BMI (p < 0.05). However, penile circumference and average testicular volumes showed no significant difference between the two groups. BPL was significantly longer in the normal BMI group starting at ten years of age. SPL was significantly longer in the normal BMI group starting at eleven years of age.

CONCLUSIONS

Pediatric obesity was confirmed to affect penile length during puberty in this study. However, no significant relationship was found between BMI and testis volume in any age. Results of this study suggest that obesity might affect the metabolism of testosterone, which in turn can affect penile length and growth during puberty.


12:23 - 12:26
S17-2 (OP)

FACTORS THAT AFFECT HCG STIMULATION TEST IN PREPUBERTAL CHILDREN WITH MICROPENIS OR SMALL TESTIS

Jae Min CHUNG 1, Sang Don LEE 1 and Won Yeol CHO 2
1) Pusan National University Children's Hospital, Urology, Yangsan, REPUBLIC OF KOREA - 2) Dong-A University Hospital, Urology, Busan, REPUBLIC OF KOREA

PURPOSE

Micropenis is a condition that affects the quality of life in men due to its association with low self esteem. Thus, it is important to treat this condition early in childhood. This study aimed to investigate the factors that influence the results of hCG stimulation test in pediatric patients with micropenis.

MATERIAL AND METHODS

A total of 346 boys with micropenis (less than -2.0 SD) between the ages of 5 to 12 years, without any chromosomal anomalies and other genital disorders,were examined retrospectively. Body mass index (BMI) with body weight and height, penile parameters including baseline and stretched penile length (BPL, SPL respectively), and penile circumference (PC), and average testicular volumes were measured before the first injection. These patients were divided into two groups based on the hCG stimulation test results : low group (testosterone increase rate <4 fold) and high group (testosterone increase rate ≥4 fold).

RESULTS

The mean age of patients was 113.0±25.5 months (50-156 months). In hCG stimulation test, 244 patients (70.5%) showed testosterone increase by greater than or equal to 4 fold. Age and BMI was found to be significantly higher in the low response group (p=0.001), while SPL was significantly longer in the high response group (p=0.003). Testis volume showed no significant difference between 2 groups.

CONCLUSIONS

Our results suggest that old age, obesity and penile size before injection of hCG have an effect on the results of hCG stimulation test. Thus, our study can help physicians when making therapeutic decisions for pediatric micropenis patients.


12:26 - 12:32
Discussion
 

12:32 - 12:35
S17-3 (OP)

GETTING GUIDELINES TO WORK: DSDCARE IN GERMANY

Lutz WÜNSCH 1, Susanne KREGE 2, Raimund STEIN 3, Felicitas ECKHOLDT 4, Andreas HEIDENREICH 5 and Ulla DOEHNERT 6
1) University of Lübeck, Pediatric Surgery, Lübeck, GERMANY - 2) Essen City Hospital, Essen, GERMANY - 3) University of Mannheim, Department of Urology, Mannheim, GERMANY - 4) University Hospital Jena, Department of Pediatric Surgery, Jena, GERMANY - 5) University of Lübeck, Epidemiology, Lübeck, GERMANY - 6) UKSH, Department of Paediatrics, Lübeck, GERMANY

PURPOSE

Medical care for persons with DSD in Germany is characterized by both over- and under-treatment, with a wide fluctuations in quality. In 2016, an interdisciplinary guideline has been agreed but was adopted inconsistently. In order to improve the structural and procedural aspects of care, a network with 9 centers was founded. A center-based implementation and evaluation study was carried out from 2021 to 2023. A surgical work group developed information materials for patients and medical staff and agreed on outcome parameters and quality indicators.

MATERIAL AND METHODS

Outcome parameters and quality indicators were developed during interdisciplinary discussions, including representatives from patient support groups. The inclusion criteria were a DSD diagnosis according to the Chicago classification and consent to participate.Then the resulting criteria were applied and the overall process subjected to quality control.

RESULTS

During the study period, 596 patients were included. 108 surgical procedures were carried out on 97 patients. Interdisciplinary case conferences between treatments centers took place in 35 cases. Peer counselling was offered to all, 4 families accepted. 53 of 108 received psychological counseling. Eight surgical complications were recorded. Follow-up examination protocols are currently available for 37 patients. Further results are under evaluation.

CONCLUSIONS

Our study represents the first attempt to establish a guideline based nationwide framework of care for persons with DSD in Germany. Patient support groups and quality control systems were integrated from the beginning.
It became apparent that the surgical centers care for different patient populations and that their activities complement each other well. This was particularly advantageous for highly specialized care issues and for the transition of children and adolescents with DSD to adult medicine.


12:35 - 12:38
S17-4 (OP)

HOW TO MANAGE PATIENTS WITH DSD IN A LOW-INCOME COUNTRY

Daisy AKURETE, Cecilia PAOLI, John YIGA, Beatrice PERCIVALE, Pierpaolo OCCORSO, Uchenna KENNEDY and Rita GOBET
Children's Surgical Hospital Entebbe, Entebbe, UGANDA

PURPOSE

We developed an algorithm for management of DSD patients in a sub-Saharan African country with minimal endocrinology/genetic evaluation and report our experience.

MATERIAL AND METHODS

All patients were clinically and sonographically assessed. Endocrinological review was recommended. Exploratory Laparotomy and Cysto-Vaginoscopy was performed according to international guidelines. Psychosocial assessment was implemented.

RESULTS

Between 4/2021- 3/2023 63 patients were assessed. Sex assigned by the families was 27 female, 33 male and 3 uncertain. Age ranged from 3d- 16 7/12, EGS from 1-7.5 (n=12). Karyotyping (n=14) and endocrinological assessment (n=7) and treatment was impossible in almost all cases. US in 54 patients with non palpable gonads was consistent with CAH in 19 patients. Laparotomy and biopsies allowed a more precise diagnosis in the other patients.

Diagnosis

n

Sex assigned

Management

CAH

19

All female

-

Ovotesticular DSD

19

14 m, 3 f, 2 uncertain prognosis

Masc.surgery 10 including 2 mastectomies and oophoro-hysterectomies

2 pat are on Testosterone suppl.

Mixed gonadal dysgenesis

5

5 m

Masc. surgery 5 including gonadectomy/orchidopexy

Perineal hypospadias with Mullerian remnant +/- inguinal testis

8

8 m

Hypospadias repair

CAIS/PAIS

2/2

2f/1 f and 1 m

-/waiting

MRKH

1

1 f

-

Turner

1

1 f

-

Virilizing tumor

1

1 f

Unilat.tumoradnexectomy

Cloaca with clitoromegaly

1

1 f

Repair

Ambiguous genitalia lost to follow up

4

?

-

CONCLUSIONS

Although our follow up is short we conclude that clinical, psychosocial and surgical assessment of DSD patients allows a pragmatic approach to the challenging management of DSD patients in a low income country except for CAH patients. CAH patients need endocrinological management. All patients and families face severe stigmatism and are in desperate need for help.


12:38 - 12:41
S17-5 (OP)

★ COMPARATIVE STUDY OF THE LEGAL FRAMEWORK FOR THE MEDICAL CARE OF PEOPLE WITH DIFFERENCES OF SEX DEVELOPMENTAL (DSD) ACROSS THE WORLD

Nicolas KALFA 1, Beth DRZEWIECKI 2, Luis BRAGA 3, Marco CASTGNETTI 4, Jacques BIRRAUX 5, Magdalena FOSSUM 6, Alexander SPRINGER 7, Anka NIEUWHOF-LEPPINK 8, Clementine VIALLA 9, Françoise PARIS 10 and Francois VIALLA 9
1) Hopital Lapeyronie, CHU Montpellier and National Reference Center for Genital Development, Montpellier, FRANCE - 2) MassGeneral Hospital for Children, Boston, USA - 3) McMaster University, Hamilton, CANADA - 4) Ospedale Pediatrico Bambino Gesù, Roma, ITALY - 5) Hôpitaux Universitaire de Genève, Geneve, SWITZERLAND - 6) Karolinska Institutet, Stockholm, SWEDEN - 7) Medical University Vienna, Vienna, AUSTRIA - 8) University Medical Center Utrecht, Utrecht, NETHERLANDS - 9) Université de Droit de Montpellier, Centre Européen d'Etudes et de Recherche Droit et Santé, Montpellier, FRANCE - 10) CHU de Montpellier, Montpellier, FRANCE

PURPOSE

Some countries have introduced legislation to regulate medical practices regarding DSD. We performed an international comparative law study to better understand how to integrate our medical decisions into these regulations.

MATERIAL AND METHODS

With an international medical law research unit 1- we extracted legislative texts, decrees, ministerial recommendations from different countries 2- we sent a questionnaire to surgeons caring for DSD-children to understand the medical decision-making procedures.

RESULTS

Data from 19 countries and 8 US states were analyzed. Legislation was enacted in only 6 countries and ministerial orders or case-law were issued in 6. Legislation is still in preparation in 11 countries while 4 have none. Laws range from a ban on surgery (Malta, Iceland) to the establishment of a multidisciplinary decision-making circuit in case of medical necessity. The decision is made at the local level (14 cases: Belgium, Italy…), at the national level (8 cases: Nordic countries, France…) or after a court decision (Germany, Australia). Most countries recognize the person's consent as essential and the parents' decision cannot replace it (23/27). Age of consent varies from 5 to 18 years but most texts do not stipulate clear limits or defer to the child's maturity. Risks of sanctions for practitioners are most often unspecified, of a professional medical board nature (n=8) or rarely criminal (n=2). Posterior hypospadias are included in this process in 61% of cases, either systematically or when non isolated (Switzerland, Australia, France).

CONCLUSIONS

Rarely has a medical activity been subject to such legislative framework while medical data and long-term studies remain sparse. This illustrates the special position pediatric urologists occupy at the interface of society, law and scientific knowledge and profoundly changes the way we practice, think and make therapeutic decisions.


12:41 - 12:44
S17-6 (OP)

★ IMPACT OF THE CREATION OF NATIONAL DSD REFERENCE NETWORK IN THE MANAGEMENT OF GERMINAL TUMOR RISK IN DSD PATIENTS

Amane-Allah LACHKAR 1, Frédérique DIJOUD 2, Pierre MOURIQUAND 1, Valeska BIDAULT 1, Patricia BRETONES 3, Aude BRAC 4 and Daniela GORDUZA 5
1) Hôpital Femme Mere Enfant, Department of Pediatric surgery and urology, Bron, FRANCE - 2) Hôpital Femme Mere Enfant, Department of Pathology, Bron, FRANCE - 3) Hôpital Femme Mere Enfant, Departmen of Pediatric Endocrinology, Bron, FRANCE - 4) Hôpital Louis Pradel, Department of Endocrinology, Bron, FRANCE - 5) CHU Saint-Etienne, Department of Pediatric surgery and urology, Saint Priest En Jarez, FRANCE

PURPOSE

To assess the impact of DSD Reference Network creation in France (2006) on the occurrence of the germinal tumor in sample of gonadectomies for DSD patients.

MATERIAL AND METHODS

Retrospective monocentric study including DSD patients who underwent gonadectomy between 1990-2005 (group 1), and 2006-2022 (group 2).

Gonodablostomas and dysgerminomas were considered as pathological lesions. Data collected: Demographics, DSD diagnosis according to Chicago classification, indication of gonadectomy, imagery, histology ,follow up. Statistics :Descriptive and univariate analysis.

RESULTS

We included 142 gonads from 75 patients (whose 62 raised as girls) with a median follow-up of 17,2 years. The karyotype was 46 XY for 53 (74,7%), 46XX-SRY+ for 1 (1,3%) and 21 patients (28%) had gonadal mixt dysgenesis.

Before 2006, the mean age at surgery was significantly lower (42,4 months group 1 vs 121,8 months group 2; p<0,01) and patients had less pathological lesions (9,1% group 1 vs 30,9% group 2; p=0,021) since the gonadectomies were significantly more systematic (72,7% group 1 vs 16,67% group 2; p<0,01),

Imagery allow the preoperatory diagnosis only in two cases.

Pathological lesions were present in 21 (14,8%) gonads in 15 patients :12 (57,1%) were gonadoblastomas, 9 (42,9%) were dysgerminomas.

Patients with lesions had  sex chromosome DSD (3), complete (9) and partial (3) gonadal dysgenesis.  We regret 2 deaths due to dysgerminomas (DSD was unknown before tumor discovery )

CONCLUSIONS

Since the creation of the DSD Reference Network, gonadectomy decision is taken later in life, after national multidisciplinary staff allowing a better acceptance of gonadal surgery but with higher risk of germinal tumor.


12:44 - 12:58
Discussion
 

12:58 - 13:01
S17-7 (OP)

TRANSITION OF CARE OF DSD PATIENTS RAISED AS FEMALES: OUR PROPOSAL

Arianna LESMA 1, Federica PASSARELLI 2 and Andrea SALONIA 2
1) Ospedale San Raffaele, Urology, Milano, ITALY - 2) IRCCS SAN RAFFAELE, Urology, Milano, ITALY

PURPOSE

A multidisciplinary management is crucial for the transition of DSD patients from pediatric to adult healthcare system. This transition represents an emerging issue and to our knowledge a standardized protocol does not exist. Aim of our study is elaborate a protocol of transitional care for these demanding patients in order to improve their clinical outcomes and quality of life.

MATERIAL AND METHODS

Our transitional care starts when patients are close to menarche. The program includes 4 steps: 1) patient identification; 2) joint visit with pediatric and adult team: 3) day hospital to perform urethrovaginoscopy, endocrinological evaluations and constructed interviews 4) transitional care to adult multidisciplinary team, composed of adult gynecologist, endocrinologist and psychologist.

RESULTS

Of 139 DSD patients raised as female followed at our Institute, a cohort of 48 patients entered transitional care program. Major complaints were: vaginal stenosis (38%), psychological support (25%), poor endocrinological management (16%), LUTS (11%), unsatisfied cosmetic results (8%), obesity (8%). Vaginal stenosis was managed by adult gynecologist with at home dilatations (22%) / surgery (50%) / watchful waiting (28%).

CONCLUSIONS

We have explored main needs expressed by these patients and examined the challenges encountered in the pathway of care. Our investigation allowed to establish how to allocate time and resources, understand how to schedule a dedicated agenda, identify the composition of the multidisciplinary team, involving both pediatric and non-pediatric specialists, and outline a feasible protocol of transition of care with the goal of improving their quality of life.


13:01 - 13:04
S17-8 (OP)

A NOVEL MODIFICATION FOR CAH CASES WITH HIGH CONFLUENCE: ANTERIOR SAGITAL TRANSRECTAL APPROACH (ASTRA) WİTH ANTERİOR PERİNEAL FLAP

Ahsen KARAGÖZLÜ AKGÜL 1 and Sadık ABİDOĞLU 2
1) Marmara University School of Medicine, Department of Pediatric Surgery, Division of Pediatric Urology, Paediatric Urology, Istanbul, TURKEY - 2) Marmara University School of Medicine, Department of Pediatric Surgery, Division of Pediatric Urology, Pediatric Urology, Istanbul, TURKEY

PURPOSE

Most challenging cases during urogenital sinus (US) mobilization (USM) are patients with high vaginal confluence. The most important measurement is urethral length which is usually accompted with long common channel. In cases with short urethra we prefer ASTRA procedure with a novel modification. The aim of this paper is to present this novel modification of ASTRA. 

MATERIAL AND METHODS

Cases with urethra shorter than 1.5 cm was selected to perform this procedure. Cliterolabioplasty was performed as a first session. In the second session, procedure started in the lithotomy position with partial USM. Then the patient was turned to prone position. Anterior wall of the rectum was opened in the midline. In classical ASTRA procedure, midline incision is performed from anorectum till the orifice of the US with splitting midline totally. In our modification, we performed this splitting partially with preserving anterior perineal flap. The US was pulled from this incision and under excellent exposure vaginal confluence dissected. Vagina was separated from the sinus and sinus was repaired. Further dissection was performed for vaginal pull though. Proximal part of the sinus was used as urethra, distal part of it was opened dorsally and fold. US flap was used to augment anterior wall of the vagina and perineal flap was used to augment the posterior wall of the vagina. 

RESULTS

This procedure was performed on two patients with CAH, aged 3.5 and 8, without complications. Postoperative follow up period was 31 and 14 months

This procedure provides a chance to use the perineal flap to augment the distal of the vagina which is frequently narrow. In original ASTRA there is not such chance for perneal flap.The technique will be explained in video if accepted.

CONCLUSIONS

It is a novel and usefull modification of ASTRA, without splitting perineal body totally with preserving perineal flap.  


13:04 - 13:10
Discussion