correction of genitalia

1. Feminizing genitoplastyFeminizing genitoplasty
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2. Normal Sexual Differentiation has 3Normal Sexual Differentiation has 3
stages:stages:
1.1.Establishment of chromosomal sexEstablishment of chromosomal sex
2.2.Development of the undifferentiated gonadsDevelopment of the undifferentiated gonads
3.3.Differentiation of internal ducts & genitaliaDifferentiation of internal ducts & genitalia
IntroductionIntroduction

3. Normal Sexual DifferentiationNormal Sexual Differentiation
Genital
Ridge
Bipotential
Gonad
SF-1
SF-1
Ovary
Follicular Cells
Theca Cells
Follicles
Mullerian
Duct
Female
Genitalia
Leydig Cells
Sertoli Cells
SF-1
SF-1
Testosterone
AMH
Testis
Mullerian Duct
Regression
Wolffian
Duct
Genital
Tubercle
Urogenital
Sinus
Male
Internal
Genitalia
Penis
Prostate
DHT

4. The Big PictureThe Big Picture……

5. Ovarian cords develop in the absence ofOvarian cords develop in the absence of
SRYSRY
2 X Chromosomes are necessary for normal2 X Chromosomes are necessary for normal
development (ovarian dysgenesis in 45 XO)development (ovarian dysgenesis in 45 XO)
They appear to differentiate granulosa cellsThey appear to differentiate granulosa cells
into the protective granulosa cell layerinto the protective granulosa cell layer
Germ cells undergo exhaustive mitosisGerm cells undergo exhaustive mitosis
creating 20 million cells by 20 weekscreating 20 million cells by 20 weeks
Ovarian DifferentiationOvarian Differentiation

6. Oestrogen synthesis is detectable atOestrogen synthesis is detectable at
8 weeks8 weeks
Oestrogens are NOT necessary forOestrogens are NOT necessary for
normal female differentiation but innormal female differentiation but in
males, they can inhibit the effects ofmales, they can inhibit the effects of
MIS on Mullerian tissueMIS on Mullerian tissue
Gonadal Function - OvaryGonadal Function - Ovary

7. It all starts with the Y chromosomeIt all starts with the Y chromosome……

9. FemaleFemale
Wolffian ducts regress due to lack of testosteroneWolffian ducts regress due to lack of testosterone
Mullerian ducts grow in the absence of MISMullerian ducts grow in the absence of MIS
Cephalic end forms Fallopian tubesCephalic end forms Fallopian tubes
Caudal end fuses to form the UterusCaudal end fuses to form the Uterus
Meets the Urogenital sinus to form the Uterovaginal plate andMeets the Urogenital sinus to form the Uterovaginal plate and
ultimately the vaginal lumenultimately the vaginal lumen
Phenotypic DifferentiationPhenotypic Differentiation

10. FemaleFemale
Genital tubercle develops into the clitorisGenital tubercle develops into the clitoris
Genital swellings become the labia majoraGenital swellings become the labia majora
Urethral folds become the labia minoraUrethral folds become the labia minora
The Introitus develops between the urethral foldsThe Introitus develops between the urethral folds
Phenotypic DifferentiationPhenotypic Differentiation

12. Abnormal Sexual DevelopmentAbnormal Sexual Development
 Virilised FemalesVirilised Females
 46 XX, normal ovaries, internal genitalia46 XX, normal ovaries, internal genitalia
 Varying degrees virilisationVarying degrees virilisation –– depends on time,depends on time,
amount of androgen exposureamount of androgen exposure
 EarlyEarly –– retention of urogenital sinus, labioscrotalretention of urogenital sinus, labioscrotal
fusionfusion
 LaterLater –– clitoral hypertrophyclitoral hypertrophy
 MMüüllerian duct differentiationllerian duct differentiation normalnormal
 CAUSESCAUSES::
 Fetal androgens - Congenital Adrenal Hyperplasia (CAH)Fetal androgens - Congenital Adrenal Hyperplasia (CAH)
 Maternal androgensMaternal androgens –– anabolic steroids, Danazol, ovarian /anabolic steroids, Danazol, ovarian /
adrenal tumoursadrenal tumours
 SyndromesSyndromes ––Beckwith-WiedemannBeckwith-Wiedemann
 IdiopathicIdiopathic

13. Congenital Adrenal Hyperplasia (CAHCongenital Adrenal Hyperplasia (CAH((
 Constitutes 60% ofConstitutes 60% of allall intersex cases in literature (however in Southintersex cases in literature (however in South
Africa true hermaphroditism is dominant)Africa true hermaphroditism is dominant)
 Possible medical emergencyPossible medical emergency
 Results from block in steroid synthesis pathwayResults from block in steroid synthesis pathway –– excess ofexcess of
precursors, deficiency of end-productprecursors, deficiency of end-product
 Decreased negative feedbackDecreased negative feedback –– increased ACTHincreased ACTH –– adrenaladrenal
hyperplasia, pigmentationhyperplasia, pigmentation
 Manifestations depend on level of blockManifestations depend on level of block
 90% of cases90% of cases –– 21 Hydroxylase deficiency21 Hydroxylase deficiency
 Salt-wasting, hyperkalaemia, hypotension, vascular collapseSalt-wasting, hyperkalaemia, hypotension, vascular collapse
 Autosomal recessiveAutosomal recessive

15. An approach to the newborn DSDAn approach to the newborn DSD
History & Physical examinationHistory & Physical examination
Biochemical studiesBiochemical studies
ElectrolytesElectrolytes
1717OH progesteroneOH progesterone
Genetic evaluationGenetic evaluation
KaryotypeKaryotype
FISH for SRY geneFISH for SRY gene
Radiographic studiesRadiographic studies
U/SU/S
GenitogramGenitogram
LaparoscopyLaparoscopy
Gonadal biopsyGonadal biopsy??

16. Physical examinationPhysical examination
••Measurement of genitaliaMeasurement of genitalia
- Micropenis: <2 cm- Micropenis: <2 cm
Clitoromegaly: >1 cmClitoromegaly: >1 cm--
- Gonad palpation- Gonad palpation
FedermanFederman’’s rule: a palpable gonad below the inguinals rule: a palpable gonad below the inguinal
ligament is testes until proven otherwisligament is testes until proven otherwis

17. Physical examinationPhysical examination
Bilateral palpable, descended gonadsBilateral palpable, descended gonads
most likelymost likely hypospadiashypospadias
Unilateral nonpalpable testesUnilateral nonpalpable testes
most likelymost likely gonadal dysgeneisgonadal dysgeneis
Bilateral nonpalpable gonadsBilateral nonpalpable gonads
most likelymost likely CAHCAH

18. DSD Team ParticipantsDSD Team Participants
Medical GeneticsMedical Genetics
Pediatric UrologyPediatric Urology
Pediatric EndocrinologyPediatric Endocrinology
NeonatologistNeonatologist
Pediatric GynecologyPediatric Gynecology
Pediatric PsychologyPediatric Psychology
NurseNurse
Medical EthisicitMedical Ethisicit
Social WorkerSocial Worker

20. Prader ClassificationPrader Classification

21. Preoperative preparationPreoperative preparation
Hormonal treatment and endocrineHormonal treatment and endocrine
consultationconsultation
GenitographyGenitography
Endoscopy either before or at the time ofEndoscopy either before or at the time of
definitive repair:definitive repair:
Length of the urogenital sinusLength of the urogenital sinus
Introduction of urethral and vaginal cathetersIntroduction of urethral and vaginal catheters

23. ENDOSCOPYENDOSCOPY

24. surgerysurgery

25. AgeAge
What is the proper time for repair?What is the proper time for repair?
3-9 months (1st year of life)3-9 months (1st year of life)
Do we wait till puberty?Do we wait till puberty?
Controversial issueControversial issue

26. CLITOROPLASTYCLITOROPLASTY
- Corporeal body excisionCorporeal body excision
- Neurovascular bundle conservationNeurovascular bundle conservation
- Ligation of both proximal ends of erectileLigation of both proximal ends of erectile
tissuetissue
- Excision of a ventral wedge for reductionExcision of a ventral wedge for reduction
glanuloplastyglanuloplasty

28. LabioplastyLabioplasty

29. Surgical correction of lowSurgical correction of low
confluenceconfluence
Cutback vaginoplasty:Cutback vaginoplasty:
- Performed in patients with labial fusionPerformed in patients with labial fusion
- Incision of the skin in midline posteriorly toIncision of the skin in midline posteriorly to
the perineum to expose the vaginal orificethe perineum to expose the vaginal orifice
- The incised lateral edges are oversewnThe incised lateral edges are oversewn

30. Flap vaginoplasty:Flap vaginoplasty:
- In low confluence UGS
- Inverted U skin incision
- Sutured to the vagina after opening the
UGS posteriorly
- Alone, not a solution
- Should be ass. With mobilization

32. Surgical correction of theSurgical correction of the
high confluencehigh confluence
Pull-through vaginoplasty
- Inverted U incision
- Dissection till vaginal catheter is
encountered
- Division of the vagina at its entrance to the
sinus& mobilized extensively
- Closure of UGS & used as a functional
urethra

34. Monfort transtrigonal approachMonfort transtrigonal approach
- Midline incision in the posterior wall of theMidline incision in the posterior wall of the
urinary bladderurinary bladder
- In very high lesionsIn very high lesions
Posterior sagittal approachPosterior sagittal approach
- In cloacal anomaliesIn cloacal anomalies
- High UGSHigh UGS

36. COMPLEX FLAPSCOMPLEX FLAPS
Gonzalez:Gonzalez:
- Flaps of phallic skin to construct the distalFlaps of phallic skin to construct the distal
vaginavagina
Passereni:Passereni:
- Distal UGS anteriorly opened to constructDistal UGS anteriorly opened to construct
the distal vaginathe distal vagina
Rink:Rink:
- Lateral incision of UGS with spiral- Lateral incision of UGS with spiral
construction of the distal vaginaconstruction of the distal vagina

38. Total UGS mobilizationTotal UGS mobilization

47. Vaginal replacement
Skin graft:Skin graft:
- From thighFrom thigh
- ContractureContracture
- Needs lubricantNeeds lubricant
- Split thickness or full thicknessSplit thickness or full thickness
- Daily dilatationDaily dilatation

48. Rotational flaps:Rotational flaps:
- Gracilis myocutaneous flapsGracilis myocutaneous flaps
- Pudendal thigh flapsPudendal thigh flaps
- Labia minora flapsLabia minora flaps
- Flaps after tissue expantionFlaps after tissue expantion

49.  Bowel vaginaBowel vagina
- Better than skinBetter than skin
- Sigmoid colon is preferedSigmoid colon is prefered
- May use ileumMay use ileum

50. Medico legal aspectMedico legal aspect