ESPE Abstracts (2018) 89 P-P3-356

ESPE2018 Poster Presentations Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 (43 abstracts)

Paediatric Doctors’ Experience and Knowledge of the Initial Management of Neonatal Ambiguous Genitalia

Sinead McGlacken-Byrne a, , Kathryn Byrne a, , Mark O’Rahelly a, & Ethel Ryan a


aUniversity Hospital Galway, Galway, Ireland; bRoyal College of Physicians of Ireland, Dublin, Ireland


Introduction: Neonatal ambiguous genitalia can herald sensitive, time-critical, and life-threatening diagnoses and thus paediatric doctors must be competent in their management. However, ambiguous genitalia are rare, limiting clinical exposure. We assessed paediatric doctors’ experience of, knowledge of, and confidence in managing this condition.

Methods: A questionnaire was circulated to paediatric doctors at two tertiary and four secondary level paediatric teaching hospitals. It established doctors’ clinical experience of ambiguous genitalia and used a Likert scale to assess doctors’ confidence in their management (1=I am very unconfident, 3=I am reasonably confident, 5=I am very confident). A clinical vignette followed by multiple choice questions (MCQ) assessed knowledge of initial diagnostic tests and differential diagnoses. A response was deemed correct if a right answer was selected or if a wrong answer was not selected. An educational module was then designed.

Results: Response rate was 100% (n=42; 26.2% male; 71.4% (n=30) junior trainees, 14.3% (n=6) senior, 14.3% (n=6) consultants). 61.9% (n=26) worked in tertiary centres. 42.9% (n=18) had never seen ambiguous genitalia. Junior trainees had seen fewer cases (M=0.9, S.D. 1.4) than senior (M=2.4, S.D.=2.2), (t(14.7)=−2.2, P=0.04). 33.3% (n=14) had helped manage a case. 21.4% (n=9) had been the first to review an infant with ambiguous genitalia, and 11.9% (n=5) the first to inform parents of the finding. 16.7% (n=7) had ordered initial investigations. On 1–5 Likert scoring, doctors were not confident in the overall management of ambiguous genitalia (M=2.5), in discussing findings with parents (M=2.9), in examining ambiguous genitalia (M=2.9), or in employing the Prader (M=1.5) or External Masculinisation Scores (M=1.4). Seniority, number of cases seen, and tertiary experience did not significantly influence mean confidence levels. MCQ responses were correct a mean of 64.0% of the time. While correct initial diagnostic tests were identified a mean of 85.2% of the time, 90.5% of participants also selected at least one incorrect response. While correct differential diagnoses were identified a mean of 70.8% of the time, 62.0% of participants selected incorrect responses. Seniority, number of cases seen, and tertiary experience did not significantly influence performance.

Discussion: Paediatric doctors, regardless of seniority, have insufficient knowledge and confidence to manage neonatal ambiguous genitalia. This reflects limited clinical exposure. As we cannot rely on experiential learning, paediatric doctors must receive targeted educational sessions on the management of ambiguous genitalia. We have designed an educational module in our centre, and will re-administer our questionnaire on its completion.

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