THE ABNORMAL PAEDIATRIC GENITALIA

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THE ABNORMAL PAEDIATRIC GENITALIA

• The timing
• of
• Surgical intervention

Dr Garfield Badal Consultant Paediatric Surgeon
MAJ Symposium, June 7, 2008
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OBJECTIVES

• Introduction
• Normal and abnormal sexual differentiation
• Range of anomalies
• Diagnostic challenges
• Timing of referral
• Principles of management

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INTRODUCTION

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

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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)

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NORMAL GENITAL DEVELOPMENT

• FEMALE

• MALE

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DEVELOPMENT OF EXTERNAL GENITALIA
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INTERSEX STATES

• CONGENITAL ADRENAL HYPERPLASIA

• Chromosomal abnormalities / mutations
• Endocrine abnormalities
• Insensitivity of target tissues to hormones

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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

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HYDROCOELE / HERNIA

• Common
• Prematurity
• Patent processus vaginalis
• Refer for early specialist opinion
• complications

• Hydrocoele expectant management
• Hernia - herniotomy

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ABNORMALITIES OF TESTES

• THE EMPTY SCROTUM
• -UNDESCENDED
• -MALDESCENT
• -RETRACTILE
• -ANORCHIDISM
• Early referral
• Orchidopexy before 18 months

• MALDESCENT

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PREPUTIAL CONCERNS

• Physiological phimosis

• Pathological phimosis

• Preputial adhesions

• Megaprepuce

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HYPOSPADIAS

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

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CHORDEE
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EPISPADIAS

• uncommon

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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

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LABIAL FUSION
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URETHRAL PROLAPSE
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COMPLEX ANOMALIES

• UROGENITAL SINUS

• CLOACA

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INTERSEX STATES

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

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INTERSEX STATES

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

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INTERSEX STATES

• MALE

• FEMALE

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DIAGNOSIS OF INTERSEX STATES
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DIAGNOSIS OF INTERSEX STATES

• SERUM ELECTROLYTES
• URINE ELECTROLYTES
• ENZYME ASSAYS
• HORMONAL STUDIES
• CHROMOSOMAL STUDIES

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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

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MANAGEMENT TEAM

• Surgeon
• Endocrinologist
• Neonatologist
• Anaesthetist
• Geneticist
• Nursing team
• Social worker

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GOALS OF SURGERY

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

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SURGICAL INTERVENTION

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

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IMPACT OF GENITAL SURGERY

• Self acceptance
• Sexual identity issues
• Good social functioning
• Academic consequences
• Relationship and sexual concerns
• Adolescent issues
• Childbearing concerns

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OPTIMAL TIMING OF SURGERY ?
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TIMING OF SURGICAL INTERVENTION
Section on Urology of the Academy on Paediatrics,
1975
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TIMING OF SURGICAL INTERVENTION

• Improved outcome with earlier surgery
• Role of hormonal manipulations
• - antenatal implications
• Impact of single stage procedures

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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

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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

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THANK YOU