Table 3:

Medical history of DICER1-carrier women with abnormal male hormone levels

Patient	Age (yrs)	Male Hormone Abnormality	Polycystic Ovarian Syndrome	Gynecology Clinical Details	DICER1-related Clinical details
1: 188–1	16	DHEA 691 ng/dL1	No	menarche age: 13 years regular menstrual cycles normal pelvic ultrasound no signs virilization Gravida 0	Status post treatment of pleuropulmonary blastoma type 1 at age 3 months
2: 104–1	17	DHEA 1289 ng/dL1	No	Menarche age: 14 years regular menstrual cycles normal pelvic ultrasound no signs virilization Gravida 0	Status post treatment of pleuropulmonary blastoma type III at 3 years and right frontal lobe brain metastasis from pleuropulmonary blastoma at age 6 years
3: 168–1	26	Androstenedione 219 ng/dL2	No	Menarche age: 13 years Regular menstrual cycles Normal pelvic ultrasound No signs virilization Gravida 0	Multinodular thyroid diagnosed at age 16 years, no intervention needed
4: 183–2	32	DHEA 645 ng/dL1; Androstenedione 201 ng/dL2	No	Menarche age: 11 years Status post hysterectomy for endometriosis Ultrasound: 6 mm echogenic lesion in right ovary No signs virilization Gravida 5 Para 3 spontaneous miscarriage 2	Papillary thyroid cancer, follicular variant age 13
5: 145–2	33	Androstenedione 271 ng/dL2	Yes	Menarche age: 13 years Regular menstrual cycles now but irregular as teen and diagnosis of PCOS then Ultrasound: normal No signs virilization Gravida 1 Para 1	Status post removal of cystic nephroma at age 1 year; thyroid nodules in early adulthood
6: 161–2	33	Androstenedione 431 ng/dL3	Yes	Menarche age: 11 years Irregular menstrual cycles due to PCOS Ultrasound: PCOS No signs virilization Gravida 3 Para 3	Thyroid cysts aspirated at age 14 and subtotal and complete thyroidectomies in early adulthood
7: 140–1	34	DHEA-S 4.1 mcg/mL4; DHEA 659 ng/dL1	Yes	Menarche age: unknown Irregular menstrual cycles treated with hormonal contraception Ultrasound: not done No signs virilization Gravida 3 Para 2 spontaneous miscarriage 1	Status post pleuropulmonary blastoma type 1 at age 2; benign thyroid nodules with partial and complete thyroidectomies in adolescence
8: 140–2	37	Androstenedione 237 ng/dL2; 17-OHP 182 ng/dL5	Yes	menarche age: 14 years Menstrual cycles regular until last 6 months then menses every 2–3 months. Ultrasound: PCOS Virilization: acne and hirsutism Gravida 4 Para 3 spontaneous miscarriage 1	Recurrent multinodular goiter status post total thyroidectomy at age 15 years
9: 129–2	40	17-OHP 398 ng/dL5	No	Menarche age: 12 years Regular menstrual cycles Normal pelvic ultrasound No signs virilization Gravida 2 Para 1 spontaneous miscarriage 1	Multinodular thyroid at age 36, no intervention

¹DHEA reference range: 0–599 ng/dL

²Androstenedione reference range: 17–175 ng/dL

³Androstenedione reference range: 30–200 ng/dL

⁴DHEA-S reference range: .35–4.30 mcg/mL

⁵17-OHP reference range: 3–175 ng/dL