ESPE Abstracts

Spontaneous pregnancies are rare in women with Turner syndrome (5.6-13%) and are often associated with a mild phenotype (late diagnosis), a normal cell lineage within a mosaic karyotype and normal pubertal maturation. Proposed biomarkers to predict fertility are AMH and ovarian histology, but none are certain. We report on an 18-year-old teenager who became pregnant despite having protected sexual intercourse (condom). At the age of 15.5 years, she was diagnosed with Turner syndrome due to her short stature (150 cm). Her clinical status was otherwise normal. The reported age at thelarche was 11 years, at menarche 12.3 years. After regular menorrhea, she developed oligomenorrhoea at the age of 14.5 years. Ultrasound examination at the age of 15 revealed a normal mature uterus, but no information on ovaries. In order to preserve fertility, half of one ovary was resected laparoscopically at the age of 16.3 years. In two independent histological examinations of the ovarian tissue, no oocytes were detected despite a macroscopically normal appearance. Serum AMH concentrations were very low in the last 2.5 years before pregnancy and ranged from 0.07 to 0.14 pmol/l (five measurements), making fertility very unlikely. In contrast, median inhibin B level was low-normal at 9 pg/mL (range, <7 to 59). The median FSH level was high-normal at 10.2 IU/l (1.8 to 41.4). This case anecdotally illustrates the uncertainty of serum markers and even ovarian histology in predicting fertility in Turner syndrome. In this case, clinical history, inhibin B and FSH were better predictors than AMH and the ovarian histology. The young adolescent woman decided to terminate her pregnancy in the tenth week of gestation.