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THE ABNORMAL PAEDIATRIC GENITALIA

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Title: THE ABNORMAL PAEDIATRIC GENITALIA


1
THE ABNORMAL PAEDIATRIC GENITALIA
  • The timing
  • of
  • Surgical intervention

Dr Garfield Badal Consultant Paediatric Surgeon
MAJ Symposium, June 7, 2008
2
OBJECTIVES
  • Introduction
  • Normal and abnormal sexual differentiation
  • Range of anomalies
  • Diagnostic challenges
  • Timing of referral
  • Principles of management

3
INTRODUCTION
  • Range of abnormalities
  • Antenatal and postnatal diagnoses
  • Management sometimes complex
  • Multidisciplinary approach
  • Significant psychosocial concerns

4
NORMAL SEXUAL DIFFERENTIATION
  • Before 6 weeks precursors to gonads, genital
    ducts and external genitalia - identical
    undifferentiated state
  • Genetically programmed for female phenotypic
    pathway
  • Male phenotypic differentiation induced by
    genetic and endocrine factors (SRY gene)

5
NORMAL GENITAL DEVELOPMENT
  • FEMALE
  • MALE

6
DEVELOPMENT OF EXTERNAL GENITALIA
7
INTERSEX STATES
  • CONGENITAL ADRENAL HYPERPLASIA
  • Chromosomal abnormalities / mutations
  • Endocrine abnormalities
  • Insensitivity of target tissues to hormones

8
SPECTRUM OF MALE ANOMALIES
  • Scrotal and testicular anomalies
  • - hydrocoele / hernia
  • - cryptorchidism / anorchidism
  • - bifid scrotum
  • Penile anomalies
  • - hypospadias
  • - epispadias
  • - chordee / torsion
  • - isolated preputial or urethral
    anomalies
  • Complex anomalies bladder exstrophy

9
HYDROCOELE / HERNIA
  • Common
  • Prematurity
  • Patent processus vaginalis
  • Refer for early specialist opinion
  • complications
  • Hydrocoele expectant management
  • Hernia - herniotomy

10
ABNORMALITIES OF TESTES
  • THE EMPTY SCROTUM
  • -UNDESCENDED
  • -MALDESCENT
  • -RETRACTILE
  • -ANORCHIDISM
  • Early referral
  • Orchidopexy before 18 months
  • MALDESCENT

11
PREPUTIAL CONCERNS
  • Physiological phimosis
  • Pathological phimosis
  • Preputial adhesions
  • Megaprepuce

12
HYPOSPADIAS
  • Hooded foreskin
  • Deficient ventral foreskin
  • Abnormal meatus
  • Chordee
  • Usually an isolated
  • anomaly

13
CHORDEE
14
EPISPADIAS
  • uncommon

15
SPECTRUM OF FEMALE ANOMALIES
  • Labial abnormalities fusion , hypertrophy
  • Hymenal variants imperforate hymen, hypertrophy
  • Urethral prolapse
  • Isolated vaginal abnormalities
  • - agenesis, fusion and duplication abn.
  • Complex vaginal abnormalities
  • - urogenital sinus anomalies
  • - cloacal anomalies
  • - rectovaginal fistula

16
LABIAL FUSION
17
URETHRAL PROLAPSE
18
COMPLEX ANOMALIES
  • UROGENITAL SINUS
  • CLOACA

19
INTERSEX STATES
  • Rare
  • Refer early for investigations
  • Congenital adrenal hyperplasia most common
  • Subset may be life threatening
  • Potential diagnostic problems
  • Multidisciplinary team

20
INTERSEX STATES
  • CLASSIFICATION
  • Chromosomal abnormalities / mutations
  • Endocrine abnormalities
  • Insensitivity of target tissues to hormones

21
INTERSEX STATES
  • MALE
  • FEMALE

22
DIAGNOSIS OF INTERSEX STATES
23
DIAGNOSIS OF INTERSEX STATES
  • SERUM ELECTROLYTES
  • URINE ELECTROLYTES
  • ENZYME ASSAYS
  • HORMONAL STUDIES
  • CHROMOSOMAL STUDIES

24
DIAGNOSIS OF INTERSEX STATES
  • EUA and Endoscopy
  • Laparoscopy and gonadal biopsy
  • Radiological imaging
  • -ultrasound
  • -contrast studies , genitogram
  • -magnetic resonance imaging
  • Diagnostic laparotomy and gonadal biopsy

25
MANAGEMENT TEAM
  • Surgeon
  • Endocrinologist
  • Neonatologist
  • Anaesthetist
  • Geneticist
  • Nursing team
  • Social worker

26
GOALS OF SURGERY
  • PRESERVATION OF SEXUAL FUNCTION
  • PRESERVATION OF FERTILITY
  • PROVIDE ACCEPTABLE COSMESIS
  • GOOD PSYCHOSOCIAL FUNCTIONING
  • GOOD OUTOME WITH LIMITED MORBIDITY

27
SURGICAL INTERVENTION
  • Accurate diagnosis
  • Treatment planned
  • Informed consent
  • Availability of surgical expertise and
    magnification
  • Suitability of tissues / organs
  • Appropriate personnel for postoperative care

28
IMPACT OF GENITAL SURGERY
  • Self acceptance
  • Sexual identity issues
  • Good social functioning
  • Academic consequences
  • Relationship and sexual concerns
  • Adolescent issues
  • Childbearing concerns

29
OPTIMAL TIMING OF SURGERY ?
30
TIMING OF SURGICAL INTERVENTION
Section on Urology of the Academy on Paediatrics,
1975
31
TIMING OF SURGICAL INTERVENTION
  • Improved outcome with earlier surgery
  • Role of hormonal manipulations
  • - antenatal implications
  • Impact of single stage procedures

32
GENERAL RECOMMENDATIONS
  • Ideally outside period of maximal parental
    separation anxiety (6 18 mths)
  • Before the development of genital identity
  • (3-5 yrs)
  • Before day care (genitoplasty)
  • Before school (severe hypospadias)
  • Treatment must be individualized

33
SUMMARY
  • Wide spectrum of anomalies
  • Care must be multidisciplinary
  • Key role of the Paediatric Endocrinologist
  • Treatment largely case specific
  • Most have a good cosmetic outcome
  • Adolescent and obstetric concerns abound
  • Gender assignment controversy exists

34
THANK YOU
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