This document discusses feminizing genitoplasty for congenital adrenal hyperplasia (CAH). It notes that CAH is an autosomal recessive disorder and the most common cause of genital ambiguity in 46-XX individuals, occurring in about 1 in 15,000 births. The document outlines the surgical techniques for vaginoplasty, clitorplasty, and labioplasty used to feminize ambiguous genitalia. It then presents outcomes from 25 patients who underwent perineal pull-through vaginoplasty, noting mostly good cosmetic results and vaginal positioning, though some patients developed issues like stenosis requiring revision. Long-term challenges are also discussed such as sensitivity, cosmetic concerns, psych

1. Feminizing Genitoplasty in
CAH
where we are now?
Ahmed Oshiba
Lecturer, Pediatric Surgery Department, Alexandria, Egypt

3. CAH is an autosomal recessive disorder.
It is the most common cause of genital ambiguity (46-XX DSD).
Incidence of 1 in 15000 live births.
More than 90 % of cases are caused by 21-hydroxylase deficiency.
75% of cases are salt wasting.
Medical treatment involved hydrocortisone, fludrocortisone.

4. Genital ambiguity is
classified according to
Prader Classification.

6. When to operate?

9. Early repair
Easy exposure.
Thicker, more vascular skin, easier dissection of the clitoris and
paravaginal tissues.
Psychological benefit for the parents.
Earlier self acceptance of the child gender identity.

10. The patient is able to take the decision and to provide the
informed consent.
Easily vaginal dilatation.
Clitoral insensitivity complication is easily diagnosed.
Late repair

11. How to approach
this patient?

12. Team Approach
Pediatric
endocrinologist.
Pediatric
genetics.
Neonatologist.
Pediatric
urologist.
Pediatric
psychiatrist.
Medical ethics

13. History and
Physical
Examination
• Maternal history of alcohol, androgenic drugs.
• Family history of previous cases, neonatal deaths,
infertility, genital ambiguity.
• General examination: well being.
• Blood pressure examination: 11-β-hydroxylase
deficiency.
• Abdominal examination: distended bladder, vagina.
• Gonadal examination: testis, ovotestis.
• Careful inspection of vaginal introitus, UGS.

14. Laboratory Investigations
• Genetic karyotyping.
• Serum electrolytes (Na, K).
• Serum cortisol level.
• Serum testosterone.
• 17- hydroxyprogesterone
level.

15. Radiographic
Evaluation

16. Ultrasound abdomen
and pelvis

17. Contrast Genitography.

21. MRI pelvis

24. Endoscopic
Evaluation
Same session and
catheters insertion.

28. How to prepare for surgery?

29. • Bowel preparation: clear fluids for 2 days, enema, polyethylene glycol-
electrolyte solution.
• Perioperative oral antibiotics.
• Preoperative steroids in CAH.
• Dorsal lithotomy position.
• Two Foley catheters in the bladder and vagina.
• Full lower body preparation from nipples to toes, front and back.

33. Feminizing
Genitoplasty

34. Vaginoplasty.
Clitorplasty.
Labioplasty.

35. Vaginoplasty

36. Low confluence
• Cutback vaginoplasty.
• Flap vaginoplasty (Fortunoff
flap): midline incision in the
posterior wall of the vagina.

38. High confluence

39. Total UGS mobilization

41. • In 1997, Pena described in cloacal anomalies.
• Cutting the pubo-urethral ligaments (urogenital diaphragm).
• Easier dissection.
• Less operative time.
• Improved cosmesis.
• Less risk of vaginal stenosis and urethrovaginal fistula.
• Poor voiding and stress incontinence (difficult to be treated).

42. Partial UGS mobilization

43. • Rink and Kaefer described this technique as alternative to TUM.
• Minimal dissection anteriorly till the level of PULs.
• Minimal vaginal mobilization laterally.

46. Vaginal pullthrough
Vaginal dissection, Passerini–Glazel

49. Vaginal Replacement

50. • Bowel substitution: natural lubricants, less dyspareunia, less
contracture and stenosis. Sigmoid is the best option, ileum is another
alternative.

52. Clitorplasty

53. Clitrolplasty

54. • Clitoral amputation.
• Clitoral recession or concealment.
• Complete excision of the corpora with neurovascular preservation.
• Subtunical excision with preservation of posterior tunica with
neurovascular preservation (kogan technique).
• Ventral glanular wedge reduction if needed.

58. Labioplasty

67. No. Age (Months) Prader classification
UGS length
(cm)
Vaginoplasty Follow up (months)
1 7 IV 2.5 PUM+P+F 24
2 12 IV 2.5 PUM+P+F 24
3 96 V 3.5 PUM+P+F 22
4 27 IV 2.5 PUM+P+F 22
5 24 IV 2.5 PUM+P+F 22
6 7 III 2 PUM+MV+F 19
7 5 IV 2.5 PUM+P+F 19
8 5 III 2 PUM+MV+F 17
9 48 IV 1 PUM+MV+F 17
10 5 IV 2 PUM+MV+F 17
11 5 V 3.5 PUM+P+F 16
12 12 IV 1.5 PUM+MV+F 16
13 7 IV 3 PUM+P+F 16
14 5 V 3 PUM+P+F 16
15 10 IV 2 PUM+P+F 13
16 48 IV 2.5 PUM+P+F 11
17 60 IV 3 PUM+P+F 11
18 18 V 2.5 PUM+P+F 11
19 12 IV 2 PUM+MV+F 8
20 32 IV 3 PUM+P+F 8
21 4 IV 2.5 PUM+P+F 13
22 5 IV 2 PUM+P+F 13
23 9 V 3.5 PUM+P+F 7
24 14 IV 2.5 PUM+P+F 10
25 8 IV 1.5 PUM+MV+F 14

68. Post-operative outcomes
Study sample
(n = 25)
No. %
Genital skin cosmetic
Good 19 76
Satisfactory 6 24
Vaginal position
At the surface of the vestibule 22 88
Deeply seated in the perineum 3 12
Clitoris
Accepted 21 84
Small 2 8
Large 2 8
Labia
Normal 24 96
Fusion 1 4
Vaginal diameter (mm)
Mean± SD 8.92± 2.11
Range 6- 13

69.  Feminizing genitoplasty using PUM by perineal
approach is a safe option for children with CAH and
ambiguous genitalia.
 Good cosmetic appearance with adequate vaginal
introitus as well as urinary continence can be achieved
in the majority of patients.

70. Long Term Results
After Genitoplasty

71. Clitoral and
Genital
Sensitivity
Questionnaires.
Genitosensory analyzer (2
probes to assess thermal
and vibratory sensitivity).

73. Cosmetic
Results
Residual labial fusion
(14%).
Labial Scrotalization (30 %).
Needs for labial revision.

74. Vaginoplasties
Vaginal Stenosis ????
Revision Surgery
Vaginoplasty.
UGS Mobilization.

75. Psychosexual
Problems.
Infrequent Intercourse.
Difficult Penetration.

76. Urological Problems
Stress Incontinence
mostly related to
Total UGS
mobilization.