ESPE2024 Poster Category 1 Sex Endocrinology and Gonads 2 (8 abstracts)
1Pediatric Endocrinology and Diabetes Institute, Shamir medical center, Beer Yaakov, Israel. 2Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 3Leumit Health care Services, Jerusalem District, Israel
Background: A finding of an enlarged clitoris in a female newborn, raises the suspicion of abnormal sexual differentiation and the possibility of female virilization, most commonly due to CAH. This often leads to an extensive medical evaluation which can be painful, expensive, and stressful for the patient and her family. Medical literature does not provide accurate values of a normal clitoris size. According to the few studies available, the current norm ranges from 9 to 13.5 mm.
Aim: to assess the long term outcome of all female neonates diagnosed at birth with clitoromegaly
Methods: A retrospective, observational, single center study of all female newborns diagnosed with clitoromegaly at Shamir Medical Center (1990 – 2022). Clitoral sizes were categorized as mild (0.9-1.1cm), moderate (1.1-1.3cm), or severe (>1.3cm).
Results: Eighty-two newborns were diagnosed with clitoromegaly in a pediatric exam. Sixty-seven (81.7%) were diagnosed with clitoromegaly when seen by an endocrinologist, and assigned for further investigation and follow-up. Numerical measurements of clitoral dimensions were available in 26.8% of patients. Thirty-eight (56.7%) completed work-up and follow-up, and five patients were diagnosed with an endocrine disorder requiring further management, while the rest were defined as healthy females. Analysis of these groups revealed significant differences. Those with defined endocrine disorders had a higher incidence of consanguinity (60% vs 12.1%, P = 0.035), of additional labial malformations (100% vs 12.1%, P = 0.0001), and longer and wider clitoris measurements, compared with the healthy females (2.2cm vs 1.2cm, P = 0.025 and 1.1cm vs 0.7cm, P = 0.007, respectively). Comparison at long term follow-up, available for a total of 56 neonates, demonstrated those with a pathology had moderate-severe clitoromegaly by estimation (60% vs 3.9 %, P = 0.003) and by measurement (2.2cm vs 1.2cm, P = 0.021).
Conclusion: Our report suggests that there may be an over diagnosis of clitoromegaly in the neonatal period by both pediatricians and endocrinologists, leading to unnecessary medical evaluations. We propose that a clitoris size of ≥13 mm as a solitary finding, or ≥11 mm when accompanied with additional ambiguity, should be considered as the threshold for conducting further tests.