ESPE Abstracts

Background: Clitoromegaly usually is a sign of virilization, and should lead to prompt evaluation in order to allow adequate treatment. Neurofibromatosis (NF) is a syndrome characterized by pigmentary changes, development of benign tumors of peripheral nerve and increased risk of other malignant tumors.

Clinical Case: A five year old female patient was referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to the investigation of NF. She had NF family history, cutaneous and pigmentary changes and a previous healthy past history with no medication use. An advice consultation was required for the endocrinology team due to atypical genital appearance. It was even thought of a disorder of sex differentiation (DDS), but her mother stated the difference appeared post-birth. On physical examination of the external genitalia there was a clítoris measuring 3,5cm x 1,5cm, in an otherwise female non-virilized genitalia with vaginal and urethral meatus, no pubic hair and non-palpable gonads. Furthermore, there was at least six café-au-lait skin macules. In order to evaluate virilization, laboratory tests were performed showing no alterations in gonadotropin levels, estradiol, thyroid function and androgens like DHEAS, testosterone, androstenedione and 17OHprogesterone. There was no hormone contact history or exposure to endocrine-disrupting chemicals. Complementary evaluation included a bone age X-ray compatible with an age of 4 years and 2 months, besides an abdominal and pelvic ultrasound and a karyotype XX. The ultrasound demonstrated a clitoromegaly due to a huge neurofibroma located adjacent to the clítoris and others neurofibromas next to the bladder causing urinary obstruction and grossly bladder thickened walls, compatible with neurofibromatosis. The uterus was normal for her age, with a volume of 1.8cm, ovaries were identified. The right ovary with 0.5 cm³ and 3 follicles smaller than 0.5 cm in diameter. The left ovary with 0.5 cm³ and contains 2 follicles smaller than 0.5 cm in diameter. The diagnosis was clitoromegaly caused by a neurofibroma in a NF girl.

Discussion: Even with a falus that made the pediatricians suspect of a DDS it is possible that a clitoromegaly is not associated with virilization. Notwithstanding there are some cases of NF presenting with genital indifference, neurofibromas as a manifestation of clitoromegaly are still rare. A differential diagnosis of clitoromegaly in children may include the diagnosis of neurofibromatosis by the pediatric endocrinologist.

Reference: 1. Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report. 2021