Female malformation

1. Female genital malformations
in
Epispadias / Bladder exstrophy
Anne-Karoline Ebert

2. Cervellione et al, J Pediatr Urol 2015;
Incidence EEC
Prospective data 2010
• In Germany 677 900 life births
1 female epispadias 1:677 900
7 male epispadias 1:96 800
21 exstrophy 1:32 200 (m+f)
5 cloacal exstrophy 1:135 500 (m+f)

3. Reutter et al, J Pediatr Urol 2011; Nelson et al, J Urol 2005; *Epidemiology of bladder exstrophy and epispadias: a communication
from the International Clearinghouse for Birth Defects Monitoring Systems. Teratology, 36: 221, 1987
Male to female ratio
Literature 1 : 1.5 – 3 (*max. 1 : 5)
• According to the phenotype
CBE 2.4 : 1
E 1.7 : 1
CE 1.6 : 1

4. Cervellione et al, J Pediatr Urol 2015;
Incidence of female EEC patients
In Europe
• In total 238 babies with EEC
58 female 24%
5 epispadias 9%
49 exstrophies 84%
4 cloacal exstrophies 7%

5. Deans et al, Am J Obstet Gynecol 2012; Ebert et al, Urology 2019; Oppelt et al, Clinical guideline 015/052; 2020;
Müllerian duct abnormalities
Seldomly in E / CBE
• General population 3-7%
• Case series: 12% (6/52) Müllerian duct duplications
• 2 removal of 1 uterus in childhood
• CURE-Net cross-sectional cohort: 3.8% (2/52 female)
• 2 uterus duplex (+1 vagina duplex) in CE and CBE

6. Suson et al, J Urol 2016;
Müllerian duct abnormalities
More often in CE
• CE Baltimore cohort n=75
• 66 % uterine or vaginal duplication, obstruction, and/or
absence
• Abnormal Müllerian duct anatomy
10 x more renal abnormalities

7. Anatomy of the external genitalia

8. Anatomy of the external genitalia

9. Anatomy of the external genitalia

10. Anatomy of the external genitalia

11. Anatomy of the external genitalia

12. Woodhouse & Hinsch, BJU 1997; Benz et al, J Urol 2018;
Anatomy of the genitalia
Summary
• Klitoris bifid, in length aequal to normal
• Perineum short and broad
• Vagina
• newborn 50% shorter than normal (1.64 cm vs 3.39 cm)
• cervix on anterior vaginal wall close to introitus
• Ovaries normal
• Uterus normal (seldom duplications)

13. Suson et al, J Urol 2013; Alyami, Fernandez et al, J Pediatr Urol 2017; Leclair et al, J Pediatr Urol 2018;
Difference to male counterpart
In E and CBE?
• In CBE MSRE, CPRE and RSTM applicable
• Bladder closure with genitoplasty
• In E perineal approach

14. Alyami, Fernandez et al, J Pediatr Urol 2017; Leclair et al, J Pediatr Urol 2018;
Perineal approach

15. Cuckow & Cao, J Pediatr Surg 2019; Frimberger, J Urol 2003;
Difference to male counterpart
In E and CBE?
• Little gender specific outcome
• RSTM: female 67% and male 81% dry by day
• Specific secondary failures
• Bladder prolapse
through dilatated meatus

16. Female genital reconstruction
Results
• Comparably few studies
• „Less complex“
• „Fewer" sexual complaints

17. Female genital function
What do we know?
• Satisfaction with genital appearance 94% (42-100%)
• Sexual activity 81% (41-100 %)
• Masturbation 50 %
• Stated to have orgasm 91% (29-100 %)
• Dyspareunia 21% (16-50 %)
• Dysmenorrhoe 41%
Grady, SIU Meeting 2013; Park et al, J Pediatr Urol 2015; Burbige et al, Urology 1986; Kaufmann, Current Urology Reports 2018;
Ebert et al, J Pediatr Urol 2016;
However: FSFI results indicate a risk of sexual dysfunction

18. Female genital problems
During follow-up
• Abdominal scars
• Hairless / scarred mons pubis
• Clitoral separation / loss of erogenous sensitivity
• Labial asymmetry
• Introitus stenosis
• Full or partial uterine prolapse

19. Secondary female genital problems
Scars
• ~ 40% or even more

20. • Mons- and labioplasty: superomedial rotation of labia majora
and the underlying tissue
*Meyer et al, BJU 2004; **Cook et al, J Urol 2005;
* *
**
Secondary female genital problems
Scars
**

21. *
Secondary genital reconstruction
Puboplasty
*Eid et al, Urology 1993; *

22. VanderBrink et al, J Plast Reconstr Aesthet Surg 2010;
Clitoroplasty -
Is it necessary?
Single center case series: 3 E, 23 CBE;
18 prim. / 15 sec.; Follow-up 10 mo- 11 yrs.
• 58% re-operation: poor cosmesis / clitoral separation
• Clitoral atrophy (partial / complete)
• Surgeon: 88% satisfactory or excellent aesthetic outcome
• No information about sexual function, sensitivity,…
➢Not enough data, whether clitoral reunion is necessary.

23. Benz et al, J Urol 2018;
Anatomy of the Clitoris

24. VanderBrink et al, J Plast Reconstr Aesthet Surg 2010; *Hurwitz et al, J Urol 1986; **Baskin et al, J Urol 1999;
Clitoroplasty
• Careful excision of the skin between clitoral halves!
*
**

25. Introitus stenosis
• 30-50%
• Requiring vaginoplasty 11%–94%
Stein et al, J Urol 1995; Cervellione et al, J Pediatr Urol 2010; Castagnetti et al, J Pediatr Adolesc Gynecol 2011;

26. Vaginoplasty
When and how?
• Avoid initial „minimal cut-back“
• After puberty
• Perineal flap vaginoplasty 24 (83%)
• Posterior cut-back vaginoplasty 3 (10%)
• YV vaginoplasty 2 (7%)
• Complications minor and low (3.4%)
Stein et al, J Urol 1995; Cervellione et al, J Pediatr Urol 2010; Castagnetti et al, J Pediatr Adolesc Gynecol 2011;
Lateral Fortunoff flap

27. Vaginoplasty
Cervellione et al, J Pediatr Urol 2010;

28. Cervellione et al, J Pediatr Urol 2010;
Vaginoplasty

29. Case report
• CBE, single stage reconstruction
• At 4 yrs. bladder augmentation and catheterisable stoma
• Gastroenterologic diagnostics: eosinophilic colitis
• 12 yrs. ….
• Bladder spasms, anticholinergics didn´t help
• Abdominal pain along stoma channel
• Unspecific knee and inguinal pain

30. Case report
• No UTI, no fewer
• No menarche
• Brownish vaginal discharge
• …..
Marino et al, Int Urogynecol J 2023;

31. Uterine prolapse
• 20-30% in young women (~16 yrs.), increasing with age (> 50%)
• Requiring surgery up to 85%
*Stein et al, J Urol 1995; Mathews et al, BJU 2003; Anusionwu et al, J Urol 2012; Nakhal et al, Int Urogynecol J 2012;
*

32. Risk factors for uterine prolapse
• Primary
• Symphysis diastasis
• Pelvic floor defect
• Deficiency of the cardial ligament
• Secondary
• Pregnancy / mode of delivery
• (Introitusplasty)
• (Cystectomy)
Anusionwu et al, J Urol 2012; Woodhouse, BJU 1999; Stec, Seminars in Pediatric Surgery 2011;

33. Inevitable symphysis rediastasis
Ebert et al, Ultrasound Obstet Gynecol 2009; Kertai et al, Eur J Pediatr Surg 2016;
• After osteotomy uterine prolapse 13-30%

34. Pelvic floor alteration
Levator hiatal area and transverse diameter
Ebert et al, Ultrasound Obstet Gynecol 2009; * Schulten et al, Am J Obstet Gynecol 2022;
levator hiatal
area
confirmed
risk factors*

35. Symphysis rediastasis = risk factor
Anusionwu et al, J Urol 2012; Ebert et al, BJU 2010;

36. Treatment of uterine prolapse
Individual approach
• Pessary
• Round ligament suspension
• Pelvic floor support by vaginal and abdominal synthetic grafts
• Abdominal and vaginal hysterectomy
• Sacrocolpopexy, laparoscopically or robotic-assisted
• +/- Osteotomy
Stein et al, J Urol 1995; Boemers et al, J Pediatr Urol 2005; Ebert et al, BJU 2000; Ansari et al, BJU 2011; Farkas J Obstet
Gynecol 1993; Muir et al, Int Urogynecol J 2004; Kaufmann, Current Urology Reports 2018;

37. Reproduction
Advices before pregnancy
Deans et al, Am J Obstet Gynecol 2012;
• Investigate infertility after 6-12 months for patients < 35 years
old, and earlier if > 35 years of age.
• Optimize renal function and bladder management prior to
conception.

38. Management during pregnancy
• 32% hypertension / preeclampsia
• 63% urological complications (30% UTI, 12% urinary diversion,
CIC difficulties, 50% prolapse…)
• Close monitoring and follow-up
Deans et al, Am J Obstet Gynecol 2012; *Bey et al, Int Urogynecol J 2021;
Councelling
mandatory!
*

39. EEC Delivery: Cesarean section
Ebert et al, Arch Gynecol Obstet 2011; * Deans et al, Am J Obstet Gynecol 2012; ** Bey et al, Int Urogynecol J 2021;
• Operative access prolonged or complicated (10%)
• Risk for the baby
• 16% preterm delivery
• 7% neonatal deaths*
• C-section: bowel / bladder injury
➢ Plan delivery at a tertiary referral obstetric unit
with urology cover, avoiding emergency deliveries!
**

40. Holmdahl et al, Eur J Pediatr Surg. 2020; Diseth et al, J Urol 1998; Dellenmark-Blom et al, Qual Life Res 2019;
Health-related quality of life
HRQOL
• HRQOL negatively affected by
• urinary incontinence
• genital dysfunction/dissatisfaction with genital appearance
• higher patient age
• pelvic organ prolapse
• More specific research and ideas for comprehensive treatment
or patient support needed!

41. Take home messages
In E and CBE
• Genital reconstruction may not be „so“ complicated,
however never trivial.
• Female genital anatomy requires lifelong attention.
• Pelciv floor restoration might prevent uterine prolapse.
• Pregnancy and birth management must be consequent.
• Improvement of continence and genital function might
positively influence HRQOL!