ESPE Abstracts

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problems in the family. Blood hormones: LH 4.7 U/l, FSH 3.2 U/l, estradiol 139 pmol/l, androgens: testosterone 1.3 nmol/l, DHEA-S 4.8 μmol/l. Pelvic organs ultrasound: endometrial thickness is 0.8 cm, yellow body cyst of the right ovary were revealed (echographic signs of a fluid formation with a diameter of 3.0 cm in the right ovary). Dydrogesterone was prescribed. Hormones on the 4th day of the regular menstrual-like reaction of the cycle, LH 11.2 U/l, FSH 14.9 U/l, estradiol 69.5 pmol/l. Medical examination after 3 months without treatment revealed hypergonadotropic hypogonadism (LH 36 IU/l, FSH 98 IU/l, estradiol 56 pmol/l). The level of antimullerian hormone was measured - 0.9 (1.1-7.8). Сonsidering the combination of blepharophimosis, hypergonadotropic hypogonadism, a defect in the FOXL2 gene was suspected.

Method: FOXL2 gene was analysed by Sanger sequencing.

Results: Heterozygous mutation c.264delC p.R89fsX149 in the first exon.

Conclusion: A clinical case of a patient with a FOXL2 gene mutation has been described.