33rd ESPU Congress in Lisbon, Portugal

S05: GENITALIA

Moderators: Barbara Kortmann (Netherlands), Haluk Emir (Turkey)

Parallel Meeting on Wednesday 19, April 2023, 16:10 - 16:55


16:10 - 16:13
S05-1 (OP)

SAFETY AND SUCCESS RATE OF TOPICAL TREATMENT OF PHIMOSIS WITH BETAMETHASONE VALERATE WITH AND WITHOUT HYALURONIDASE

José Murillo NETTO 1, Rosa M. N. SANTOS 2, Bárbara F GOUVEA 2, Carolina DELGADO 2, Annelise V. MASSON 2, Andé A. FIGUEIREDO 1 and José BESSA JR. 3
1) Universidade Federal de Juiz de Fora (UFJF), Surgery/Urology, Juiz De Fora, BRAZIL - 2) Faculdade de Ciência Médicas e da Saúde de Juiz de Fora (SUPREMA), Pediatrics, Juiz De Fora, BRAZIL - 3) Universidade Estadual de Feira de Santana (UEFS), Urology, Juiz De Fora, BRAZIL

PURPOSE

Corticoteroids have been as a treatment option in children presenting phimosis. Different treatment regiments and agents have been used. The association of hyaluronidase to betamethasone has been proposed to increase absorption and improve results. However, long-term use can be associated with drug absorption and impair of the cortisol axis. The aim of this study is to compare the effectiveness of 2.5mg betamethasone valerate with and without hyaluronidase and assess whether there is systemic absorption of cortisol.

MATERIAL AND METHODS

This is a randomized, double-blind clinical trial including 132 boys (age range 3 to 10 years) with phimosis. The children were randomized into two groups: Group 1 (betamethasone) and Group 2 (betamethasone group associated with hyaluronidase). Those responsible for the participants were instructed to perform the application of the oinment twice a day, after hygiene, for 60 days. Before starting treatment, all were examined by a single researcher to identify the type of phimosis according to the Kayaba classification. Collection of salivary cortisol was performed at 11:00 pm and 9:00 am before and after treatment.

RESULTS

111 boys completed the treatment regimen. The mean age was 69.08 ± 26.23 months. After 60 days of treatment, 40 boys (74.1%) in G1 and 34 (59.7%) in G2 had resolution of the phimosis (p=0.16). In a logistic regression model, age, history of balanoposthitis, adhesions did not influence results. Only phimosis Kayaba type 3 was associated with a greater resolution (OR: 10,7 CI:   1,3691 to 84,2018). Morning and night salivary cortisol levels were similar pre and post treatment (p>0.05 for all analysis).

CONCLUSIONS

Topical treatment with 2.5mg betamethasone valerate ointment regardless of the association with hyaluronidase are similarly effective in the treatment of phimosis and do not present systemic absorption that influences the risk of hypothalamic-pituitary- adrenal axis blockage. Phimosis Kayaba type 3 are more likely to resolve.


16:13 - 16:16
S05-2 (OP)

ESTABLISHING NORMAL PENILE SKIN SENSATION USING TWO-POINT DISCRIMINATION TEST

Naser ALMEFLEH 1 and Muhammad Eyad BA'ATH 2
1) Bab Al Hawa Relief Hospital, Paediatric Surgery, Kilis, TURKEY - 2) American Hospital Dubai, Pediatric surgery, Dubai, UNITED ARAB EMIRATES

PURPOSE

Degloving of the penis is a routine part of many penile surgeries. The effect of this on penile sensation is unknown. The Two-Point Discrimination test (TPD) is used in clinical practice to evaluate sensory nerve function. There is no normative data for two-point discrimination sensation in the penile skin in children.

MATERIAL AND METHODS

Participants were prospectively collected from the pediatric surgical clinic patients provided they were: 6 years or older, generally healthy with no known systemic or neurological disease, had no prior genitourinary surgery or trauma, and demonstrated understanding of the test principle on the fingers. Lowest TPD test was recorded for the following areas: dorsum of penis, ventral surface of penis, pubic skin, scrotum and medial thigh. The test was started at 5 mm and incrementally increased by 2 mm until the child could reliably feel two separate touch points by giving correct responses 4 out of 5 or 7 out of 10 times for each area. Data was analysed using mean +/- standard deviation.

RESULTS

24 patients were enrolled during the study period August 2021 - October 2022, mean age 10 +/-2.1 years. TPD for dorsal and ventral penile skin was 8.5 +/-1 mm. For the scrotum, pubic skin and medial thigh; TPD was 9.9 +/-1.6, 10.3 +/-1.8 and 14 +/- 2.4 mm; respectively.

CONCLUSIONS

Normal TPD for the penile skin is around 8 mm. This will aid in studying sensory effects of penile surgery, particularly degloving penile skin.


16:16 - 16:19
S05-3 (OP)

CONCORDANCE OF PLANNED VERSUS ACTUAL PENILE SURGERY WHEN USING TELEMEDICINE FOR PRE-OPERATIVE ASSESSMENT OF CHILDREN

Peter CAI, Andrea BALTHAZAR, Tanya LOGVINENKO, Caleb NELSON and Julia FINKELSTEIN
Boston Children's Hospital, Urology, Boston, USA

INTRODUCTION

While telemedicine (TM) may facilitate access, it is unknown if TM alone is sufficient to permit accurate surgical booking for penile conditions. We sought to characterize concordance between surgical booking and actual procedure performed in children initially evaluated by TM for penile conditions.

PATIENT AND METHODS

Using a prospective database of children who had a TM encounter between August 2020 and December 2021, we identified those who underwent penile surgery. Concordance (defined as identical match of CPT code between booking and surgical charge) was calculated for patients scheduled for surgery based on TM evaluation. For comparison, we assessed concordance for patients who had an initial TM visit but also had a subsequent in-person visit (IPV) prior to surgical booking.

RESULTS

Of 102 patients, 44 (43.1%) had surgical booking based on TM alone. There was no difference between TM and IPV groups in age, race, ethnicity, or TM device type used. Overall, the most common surgeries were hypospadias repair (33.3%), circumcision (31.3%), and circumcision revision (21.6%). Concordance was 90.9% in the TM group, vs. 86.2% in the group with IPV prior to booking (n=58, p=0.68). In the TM group, the greatest discordance was seen in complex hypospadias (40%). Though not statically significant, hypospadias was more commonly booked in the IPV group (41.3% of cases vs. 22.7%, p=0.08).

CONCLUSIONS

TM can be accurate for pre-operative assessment of penile conditions in children, with high concordance between surgical booking and procedure performed for selected patients. Concordance was not higher among patients who had an IPV before booking, although this may reflect anatomic uncertainty that led to the decision to assess with IPV prior to surgery. Greater experience with TM may help determine when IPV is needed in pediatric urological care.


16:19 - 16:22
S05-4 (OP)

RATES OF DIFFERENCES IN SEX DEVELOPMENT AND NON-GENITOURINARY CONGENITAL ANOMALIES ALONG THE SPECTRUM OF HYPOSPADIAS AND CRYPTORCHIDISM

Andrew GABRIELSON 1, Logan GALANSKY 1, Chad CRIGGER 1, Taylor KOHN 1, Hayley SPARKS 2, Nora HANEY 1, Charlotte WU 1, John GEARHART 1 and Heather DI CARLO 1
1) JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE, JAMES BUCHANAN BRADY UROLOGICAL INSTITUTE, Baltimore, USA - 2) CHILDRENS NATIONAL MEDICAL CENTER, PEDIATRICS, Washington, USA

PURPOSE

The DSD consortium recommends that only patients with proximal hypospadias and undescended testis (UDT) should undergo DSD evaluation, which may overlook select patients. We performed a retrospective cohort study to evaluate UDT as a marker for DSD as well as non-genitourinary congenital anomalies (NGCA) among patients along the spectrum of hypospadias.

PATIENTS AND METHODS

We queried the TriNetX research network for patients with distal, mid-shaft, or proximal hypospadias within 6 months of birth, and >1 year follow-up.  Age, UDT, DSD, and NGCA status were extracted using ICD10 codes.  Age-matched cohorts of patients without hypospadias, distal hypospadias, and mid-shaft hypospadias with or without UDT were compared to patients with proximal hypospadias with or without UDT.

RESULTS

From 2014-2022, 1,126 children (median follow-up 4-years) had proximal hypospadias, of which 170 (15.1%) had DSD, 168 (14.9%) had UDT, and 395 (35.0%) had NGCA.  Among patients with proximal hypospadias, those with UDT had a significantly higher risk of DSD (RR 3.6[2.7,4.7]) and NGCA (RR 1.9[1.6,2.2]) compared to those without UDT.  DSD rates were similar between patients with proximal hypospadias without UDT (10%) to patients with mid-shaft hypospadias and UDT (7.7%).  Rates of DSD among patients along the spectrum of hypospadias phenotypes are listed in Table 1.

 

No Hypospadias without UDT

N=753,890

No Hypospadias with UDT

N=13,012

Distal Hypospadias without UDT

N=5,587

Distal Hypospadias with UDT

N=174

Mid-Shaft Hypospadias without UDT

N=4,744

Mid-Shaft Hypospadias with UDT

N=162

Proximal Hypospadias without UDT

N=958

Proximal Hypospadias with UDT

N=168

DSD(n,%)

2,334(0.3%)

274(2.1%)

27(0.5%)

8(4.6%)

50(1.1%)

15(9.3%)

98(10.2%)

61(36.3%)

CONCLUSIONS

The high rate of DSD (~10%) among patients with proximal hypospadias with bilateral descended testes and mid-shaft hypospadias and UDT suggests that DSD evaluation should be considered in these patients.


16:22 - 16:36
Discussion
 

16:36 - 16:39
S05-5 (OP)

TUMOR RISK IN PATIENTS WITH DSD

Venkata JAYANTHI 1, Frances FEI 2 and Justin INDYK 3
1) Nationwide Children's Hospital, Section of Urology, Columbus, USA - 2) Nationwide Children's Hospital, Department of Pediatric and Adolescent Gynecology, Columbus, USA - 3) Nationwide Children's Hospital, Department of Endocrinology, Columbus, Ohio, USA

PURPOSE

Some patients with differences of sex development (DSD) are at elevated risk of germ cell tumors (GCT), usually due to the presence of dysgenetic gonads. The risk for each specific diagnosis is unknown.

MATERIAL AND METHODS

This is a retrospective study of patients with 45X/46XY or 46XX/46XY mixed gonadal dysgenesis (MGD), 46XY complete gonadal dysgenesis (CGD), ovotesticular DSD, and 46XY partial gonadal dysgenesis (PGD). Patients with complete androgen insensitivity were not included. Data were collected on demographics, imaging studies, diagnosis, pathology reports, and clinical presentation.

RESULTS

70 patients met inclusion criteria and were included in the study, including 42 patients with MGD, 20 CGD, 4 PGD, and 4 ovotesticular DSD.
Of the patients with MGD, 16 underwent bilateral gonadectomy and 9 unilateral gonadectomy. Bilateral gonadectomy occurred at average age 4.8 years (range 0-17 years). 12.5% of patients were found to have gonadoblastoma or dysgerminoma.

Of patients with CGD, all patients who underwent gonadectomy had bilateral resection (n=14). Surgery occurred at average age 8.6 years (range 0-18 years). Almost half (43%) of patients were diagnosed with gonadoblastoma and/or dysgerminoma.
One patient with ovotesticular DSD and one with PGD each underwent bilateral gonadectomy. Two other patients in each group underwent unilateral gonadectomy. No cases of GCT were identified.

CONCLUSIONS

The risk of GCT varies widely based on the DSD diagnosis. Patients with CGD are at very high risk of developing neoplasms and should undergo prophylactic gonadectomy, either at time of diagnosis or in early childhood. Patients with MGD are also at an increased risk, but likely much lower than those with CGD.


16:39 - 16:42
S05-6 (OP)

CHANGES IN MANAGEMENT OF 46 XX CAH OVER 17 YEARS

Behzad SOROURI KHORASHAD 1, Melissa COLSMAN 1, Peter LEE 2, David SANDBERG 1 and Barry KOGAN 3
1) University of Michigan, Pediatrics, Ann Arbor, USA - 2) Penn State University, Pediatrics, Hershey, USA - 3) Albany Medical College, Urology, Albany, USA

PURPOSE

Management of several aspects of 46XX CAH remains controversial. New data, as well as legal and political initiatives may have had an effect on care with clinicians encouraged to involve patients and delay surgery. We wished to determine how much clinician recommendations have changed over time.

MATERIAL AND METHODS

Members of the Societies of Pediatric Urology (SPU) and the Pediatric Endocrine Society (PES) participated in a web-based survey in 2003-4, 2009-10 and 2020. There were two cases (mild-moderate and severe CAH). The main outcome measures were the gender of rearing at birth, the source of shared decision-making, the timing of genital surgery, and the timing of disclosure.

RESULTS

Most participants recommended rearing the newborn as a girl, sharing decision-making with the parent (versus patient), performing early genitoplasty, and early disclosure. Several trends over time were also recognized: a small but significant shift toward recommending a gender other than a girl for severely virilized CAH (96 to 89 to 82%, p < .001), including the patient in decision-making for both girls with mild-moderately virilized (87.5% to 79% to 67%, p < .001) and severely virilized CAH (96% to 89% to 82%, p < .001), performing surgery later in life for mild-moderately (81 to 79% to 64%, p < .001) and severely virilized cases (90.6 to 88.3 to 72.1%, p < .001). In most categories, PES members changed opinion over time more than SPU members.  

CONCLUSIONS

Despite variabilities in the recommendations, most expert recommendations followed clinical guidelines and did not change greatly since 2003. However, small but significant trends exist, some of which are in line with empirical evidence and some independent/against current data. 


16:42 - 16:45
S05-7 (OP)

OVERVIEW OF DEMOGRAPHIC DATA, GENDER IDENTITY, AMH LEVELS, GONADAL STATUS AND EXTERNAL GENITALIA SCORE (EGS) IN 23 OT-DSD PATIENTS FROM A SINGLE CENTER

Maria KARSAS 1, Yazan F H RAWASHDEH 2, Claus H GRAVHOLT 3 and H Nico LOURENS 4
1) University of Pretoria, Department of Paediatrics Department of Paediatric Endocrinology, Pretoria, SOUTH AFRICA - 2) Aarhus University, Department of Clinical Medicine - Department of Urology, Aarhus, DENMARK - 3) Aarhus University, Department of Clinical Medicine - The Department of Endocrinology and Diabetes, Aarhus, DENMARK - 4) University of Pretoria Steve Biko Academic Hospital, Department of Urology, Pretoria, SOUTH AFRICA

PURPOSE

The incidence of DSD in the general population is estimated at 1 in 4500-5000, with OT-DSD being rarest of all. In this study we report on the demographic data, AMH levels, external genitalia score (EGS), gonadal biopsy as well as gender identity in a 23 patient cohort.

MATERIAL AND METHODS

A prospective case-control study was conducted. Patients diagnosed with OT-DSD based on gonadal biopsy, or discordance between US, karyotyping and hormonal profiles. Controls were recruited from patients presenting for circumcision for non-medical indications. Here we report findings of the OT-DSD cohort. Discordance/concordance in gender identity between parents and the child was also evaluated. Data was obtained anonymously & analysis performed.

RESULTS

Criteria Assessed
Mean age of Population
7 years 8 months
Mean delay (months) before presenting for first time
26.9 months
Karyotyping
46XX (22/23)
QF-PCR results (Y-genetic material)
QF-PCR Negative (19/19)
Median EGS
3.5 (22/23)
Gonadal Status on Biopsy
Unilateral Ovotestis: 30% (6/20)
Bilateral Ovotestes: 68% ( 13/20)
Not Biopsied: 1 patient
Mean AMH-level at first presentation (ng/mL)
Normal male range: (7.79 - 96.73)
Normal female range: (1.03 - 2.96) 
21.97 ng/mL (15/23) 
[range: 4.65-77.60]

Concordance or discordance between gender identity (patients vs. parents)

(male/female/unsure) 

84% Concordance/ 
16% Discordance 
(19/19)
Evidence of DSD in siblings
None (16/23)
Employment status of parents

Mother: 45% Unemployed 
(20/20)
Father: 45% Unemployed 
(20/20)
Province of Origin
Mpumalanga: 76.2%
Gauteng: 23.8%

CONCLUSIONS

This unique population of 46XX OT-DSD patients originates from a well-demarcated area, mostly rural and underdeveloped. The majority of patients presenting have a significant delay from birth until first contact with a specialized center. The absence of Y-chromosome material is unusual, while gonadal biopsies uniformly showed presence of ovotestes. The fact that most patients are from the same geographic area may point towards an environmental factor.  Further genetic/epigenetic studies are needed to fully understand what the underlying causes might be.


16:45 - 16:55
Discussion