Gynecologic and Reproductive Health Issues in Patients With DICER1 Mutations [26E]

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DICER1 syndrome features pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors (SLCT) and embryonal rhabdomyosarcoma of the cervix; the full spectrum of obstetric/gynecologic issues is unknown. We evaluated ob/gyn health in the world's largest cohort of thoroughly phenotyped patients with DICER1 mutations.


Females with DICER1 mutations underwent evaluation at the NIH from 2011–2015, including history, record review, physical exam, hormone testing and pelvic ultrasound.


Of 45 patients (range 2–72 y), none reported precocious puberty. Thirty-six women (over 9 y) reported median age at menarche of 12.5 y. Two had PCOS. Of 5 patients with a history of ovarian SLCT, 4 presented as adolescents and 5 with virilization/amenorrhea. None had a history of cervical tumors. Twenty-four women reported a total of 82 pregnancies; 56 resulting in vaginal deliveries and 8 in Cesarean-sections (4 were preterm). Eight of 24 patients had thyroid issues during pregnancy leading to postpartum lobectomy/thyroidectomy in 3 patients. Infertility was uncommon (n=3). Despite normal fertility, AMH levels were abnormally low in 5 of 10 reproductive-aged women tested (median 1.3; range: 0.3–4.4 ng/mL). Pelvic ultrasounds/exams, tumor markers and other reproductive hormone testing were normal at time of evaluation.


Our study suggests an increased risk of thyroid enlargement during pregnancy, warranting thyroid assessment given the potential for thyroid nodules or rarely thyroid cancer in individuals with DICER1 mutations. We did not observe an increased risk of pubertal, menstrual or fertility issues in DICER1-affected women. AMH levels, a marker of ovarian reserve, may be lower in these otherwise fertile women and warrants further investigation.

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