36th ESPU Meeting in Paris, France

S13: DSD

Moderators: Gillian Barker, Marco Castagnetti

ESPU Meeting on Thursday 18, June 2026, 15:00 - 15:40


15:00 - 15:05
S13-1 (VP)

★ ROBOTIC-ASSISTED UROGENITAL RECONSTRUCTION IN A GIRL WITH AN UNCLASSIFIED MÜLLERIAN ANOMALY AND CYCLICAL HEMATURIA

M S ANSARI 1 and Dr Priyank YADAV 2
1) Sanjay Gandhi Postgraduate Institute of Medical Sciences, Pediatric Urology, Department of Urology and renal transplantation, Lucknow, INDIA - 2) Sanjay Gandhi Postgraduate Institute of Medical Sciences, Pediatric Urology, Lucknow, INDIA

PURPOSE

      [Pelosi et al., Reproductive Biology and Endocrinology.  (2024) 22:157

         -The precise anatomical findings in this unique case included:

MATERIAL AND METHODS

RESULTS

CONCLUSIONS


15:05 - 15:08
S13-2 (CP)

★ LONG-TERM URINARY FUNCTION AFTER UROGENITAL SINUS SURGERY IN PATIENTS WITH DSD: A 30-YEAR SINGLE-CENTER EXPERIENCE

Hüseyin BILGI 1, Merve DEDE 2, Ayşegül AKBULUT 2, Tuğçe Merve ORBAY 2, Mehmet Ugur YILMAZ 2, Nizamettin KILIÇ 2 and Mehmet Emi̇n BALKAN 2
1) Bursa Uludag University Faculty of Medicine, Pediatric Surgery, Nilufer, TÜRKIYE - 2) Bursa Uludag University Faculty of Medicine, Pediatric Urology, Nilufer, TÜRKIYE

PURPOSE

Patients with differences of sex development (DSD) who present with a common urogenital sinus require individualized surgical reconstruction. While the anatomical and cosmetic outcomes of various techniques are well described, their long-term impact on urinary function remains insufficiently defined. This study aimed to evaluate urinary continence and voiding outcomes in a large DSD cohort and to determine whether the choice of surgical technique is associated with differences in lower urinary tract symptoms (LUTS).

MATERIAL AND METHODS

A retrospective review was conducted of 51 patients older than 5 years who underwent urogenital sinus surgery between 1990 and 2020. The mean age at follow-up was 18.8 ± 7.3 years. Diagnoses included congenital adrenal hyperplasia (66.7%), vaginal atresia (n=5), Müllerian agenesis (n=4), mixed gonadal dysgenesis/Turner variants (n=3), testicular feminization (n=1), imperforate hymen (n=1), and bifid vagina with vaginal atresia (n=1).

Surgical techniques included:

Urinary function was assessed through validated questionnaires (CBBDQ, IBSS, ICIQ-SF123) and clinical evaluation of urinary symptoms. Statistical analyses included chi-square and Fisher–Freeman–Halton tests, with p<0.05 considered significant.

RESULTS

Most patients demonstratedpreserved urinary function:

Clinically diagnosed lower urinary tract dysfunction (LUTD) was identified in 7 of 51 patients (13.7%).
A substantial majority (86.3%) reportedno urinary symptoms, with enuresis, urgency, or daytime leakage occurring rarely (each ≤3.9%).

Across all surgical groups, there wereno statistically significant differencesin:

All statistical tests yieldedp > 0.05, indicating thatno surgical technique demonstrated superiority or increased riskof urinary dysfunction.

CONCLUSIONS

Long-term urinary outcomes after urogenital sinus surgery in patients with DSD are generally favorable, withno significant differences among surgical techniques. These findings support the notion that the choice of surgical method may be guided primarily by anatomical considerations and genital reconstruction goals rather than concerns about long-term urinary function. This study represents one of the most comprehensive regional datasets on urinary outcomes following DSD surgery.


15:08 - 15:13
S13-3 (VP)

★ SURGICAL MANAGEMENT OF A 46,XX DSD PATIENT WITH A DUPLICATE VAGINA OPENING INTO THE BLADDER NECK AND HIGH VAGINAL CONFLUENCE

Ahsen KARAGÖZLÜ AKGÜL and Sadik ABIDOGLU
Marmara University Pendik Training & Research Hospital, Paediatric Urology, Istanbul, TÜRKIYE

PURPOSE

In feminizing genitoplasty, one of the most challenging aspects is the surgical dissection of patients with a long urogenital sinus (UGS) and a high vaginal confluence. This report aims to present the surgical management—supported with operative videos—of a patient with duplicated vaginas, both opening into the bladder neck.

MATERIAL AND METHODS

A 7-year-old phenotypic girl with endocrine evaluation within normal limits presented with ambiguous genitalia. Physical examination revealed a 3-cm long, hollow cylindrical skin projection arising from the anterior commissure. The vulva lacked labia, and only a single perineal opening was present. The anus was normal. Genetic analysis confirmed a 46,XX karyotype.
Cystoscopy and laparoscopy were performed. The UGS measured 3.7 cm, with the bladder neck located at its proximal end. Both vaginal orifices opened into the bladder neck, and the right and left vaginal depths were measured as 18 mm and 20 mm, respectively. Laparoscopy revealed a rudimentary uterus and normal ovaries.
Because of the very high vaginal confluence at the bladder neck, the operation was initiated by performing a vaginal dissection from within the bladder. After the duplicated vaginas were completely separated from the bladder, the common wall between them was excised to create a single vaginal lumen. Due to the hypoplastic nature of the vaginas, they could not reach the perineum despite extensive dissection. Therefore, their distal end was augmented using a sigmoid colon segment.
During external genital reconstruction, labia minora were fashioned from the cylindrical skin extension originating from the anterior commissure.

RESULTS

Postoperatively, the vulva showed clearly separated openings for the vagina and urethra, and no vaginal stenosis was observed.

CONCLUSIONS

In cases with extremely high vaginal confluence, reaching the vagina through a perineal approach can be challenging. In this patient, an intravesical approach allowed safe and effective vaginal dissection. For patients in whom the vaginal confluence opens near or into the bladder neck, this method may represent a useful surgical alternative.


15:13 - 15:25
Discussion
 

15:25 - 15:28
S13-4 (CP)

DO CAH WOMEN WHO UNDERWENT EARLY GENITOPLASTY EXPERIENCE SURROGATE REGRET? - RESULTS OF A QUESTIONNAIRE SURVEY

Arianna MARIOTTO 1, Supul HENNAYAKE 1, Tamas CSERNI 1, Indi BANERJEE 2, Gail BUSBY 3, Mars SKAE 2, Leena PATEL 2, Raja PADIDELA 2, Jacqueline NICHOLSON 4, Julie JONES 2 and Anju GOYAL 1
1) Manchester University NHS Foundation Trust, Paediatric Urology, Manchester, UNITED KINGDOM - 2) Manchester University NHS Foundation Trust, Paediatric Endocrine, Manchester, UNITED KINGDOM - 3) Manchester University NHS Foundation Trust, Obstetrics and Gynecology, Manchester, UNITED KINGDOM - 4) Manchester University NHS Foundation Trust, Paediatric Psychology, Manchester, UNITED KINGDOM

PURPOSE

46XX Congenital Adrenal Hyperplasia (CAH) may present at birth with varying degrees of genital virilisation. Early surgery has been questioned due to concerns about bodily autonomy and long-term surgical outcomes. This study aimed to investigate the regret experienced by women about the decision made by parents (surrogate regret), and to assess the psychosocial and functional outcomes.

MATERIAL AND METHODS

All virilised 46XX CAH females aged >16 years treated at our institution since 1976 were invited to complete a bespoke questionnaire.

RESULTS

Out of 99 eligible individuals, 32 (median age 21 years) completed the questionnaire. Of these, 29 had undergone early surgery (median age 1.4 years), while 3 had not received surgery.
At puberty, 14 underwent routine assessment, 3 required minor introital revision. One required redo clitoral reduction.
All participants identified as female and were comfortable with their gender identity. Of these, 19 identified as heterosexual, 4 homosexual, 4 bisexual and 5 were uncertain.
Poor self-esteem was reported by 8 and causes identified were: excess body hair(5), voice deepening(4), body weight concerns(2), appearance of genitalia(4). Five reported poor psychological wellbeing due to: the need for regular medication and side effects(3); excess hair(2); period problems(1); change in voice(1); appearance of the genitalia or/and previous surgery(3); anxiety/depression(3).

17/32 had been in a relationship. Ten had concerns regarding current genitalia appearance and reported negative impact on sexual relationships.
Seven reported on sexual experience: difficulty becoming lubricated(3), difficult reaching orgasm(4), discomfort on vaginal penetration(5).
When asked about their opinion on the parental decision for early surgery, 2 participants expressed dissatisfaction, while 27 (93%) reported no surrogate regret.
When asked for their opinion on the preferred age for surgery, 20 participants favoured early surgery, 3 were opposed, and 7 were uncertain.

CONCLUSIONS

Ninety-three percent of patients were satisfied with the parental decision for early childhood surgery, while two reported surrogate regret. Surgical outcomes were generally positive, with 13% requiring a redo procedure (usually minor revision). Psychosocial outcomes were negatively impacted by the hormonal effects of CAH. Sexual experience was also adversely affected by CAH.
When asked about their opinion on early versus deferred surgery, 60% favoured early surgery, while only 10% opposed it.


15:28 - 15:31
S13-5 (CP)

DIAGNOSIS OF VIRILISING CAH: IMPACT ON PARENTAL WELLBEING AND DECISION MAKING

Arianna MARIOTTO 1, Supul HENNAYAKE 1, Tamas CSERNI 1, Indie BANERJEE 2, Gail BUSBY 3, Mars SKAE 2, Leena PATEL 2, Raja PADIDELA 2, Jacquline NICHOLSON 4 and Anju GOYAL 1
1) Manchester University NHS Foundation Trust, Paediatric Urology, Manchester, UNITED KINGDOM - 2) Manchester University NHS Foundation Trust, Paediatric Endocrinology, Manchester, UNITED KINGDOM - 3) Manchester University NHS Foundation Trust, Obstetrics and Gynecology, Manchester, UNITED KINGDOM - 4) Manchester University NHS Foundation Trust, Paediatric Psychology, Manchester, UNITED KINGDOM

PURPOSE

Early childhood surgery for virilising 46XX Congenital Adrenal Hyperplasia(CAH) has been questioned and there is a growing advocacy for deferring surgery until the individual is able to actively participate in the decision-making process. Parents are surrogate decision makers for children and shoulder the responsibility for taking difficult decisions in the interest of their child. We investigated the impact of the condition on parents and explored their decision-making process.   

MATERIAL AND METHODS

Parents of virilized CAH girls ≥2 years of age were invited to complete a bespoke questionnaire.

RESULTS

Questionnaires were completed by 31 of 60 (52%) parents contacted. Patients’ median age at the study was 15 (5-26) years. Genitoplasty (median age 1.6 years) was chosen by 22 (71%), 3 were waiting for surgery, 6 chose no surgery (mild clitoromegaly). Questionnaire was completed after a median of 12 years (1.5-22) from surgery.
CAH negatively impacted parental wellbeing in 20 out of 31 cases. Virilised genitalia affected parental confidence in allowing others to be involved in intimate care (17); in most cases extended family was not aware of virilisation.
Most parents felt supported and well-informed by medical team. Of 22 operated, 21 had no decisional regret.
When informed about the debate on timing of surgery and asked opinion, 20 wanted to have the option of early childhood surgery, 3 were against it, 8 had no opinion. Parents’ justification for early surgery included the desire to avoid stigmatisation/discrimination, reduce discomfort/anxiety, improve self-esteem/confidence; avoid painful procedure that could be remembered (“no memory – no trauma”), and minimise “psychological and physical trauma”.

CONCLUSIONS

Diagnosis of CAH with its physical and psychosocial consequences has a profound impact on parents, negatively affecting their wellbeing. In cases of significant virilization, most parents (100%) opted for surgery, driven by concerns about the child’s social, physical, and psychological well-being. Most (95%) reported no decisional regret. 65% would prefer that they had the freedom to choose early childhood surgery if they feel it was necessary.


15:31 - 15:40
Discussion