Endocrine Abstracts

Introduction: Triple X syndrome is the most common female chromosomal abnormality, with an estimated incidence of 1/1000 female newborns. Most of the women are phenotypically normal, apart from being taller than average. Possible additional problems are psychiatric disorders, genitourinary malformations, EEG abnormalities, scoliosis and premature ovarian insufficiency.

Case report: 46-year-old female, referred to the Endocrinology department due to secondary amenorrhea since 30 years old. Obstetric history of one gestation/one liveborn at 21 years old. Personal history of androgenic alopecia without known aetiology. Irrelevant family history. Medicated with hormonal replacement therapy since last year. Unremarkable physical examination. Height 149 cm, Weight 60 kg. The biochemical study showed an elevated basal Follicle-Stimulating Hormone (FSH) level 43.59 mUI/mL (reference range 2.5–10.2) and Luteinizing Hormone (LH) 23.14 mUI/mL (1.9–12.5) with low estradiol 65.79 pmol/l (71.6–529.2). Further biochemical study was normal, namely sex hormone binding globulin, thyroid function and negative auto-immunity. A transvaginal pelvic ultrasound scan showed no alterations. No osteoporosis or osteopenia verified by DEXA. The karyotype revealed a mosaicism of 47, XXX/46, XX.

Discussion: Genetic defects are proposed to cause premature ovarian insufficiency by increasing atresia of ovarian follicules due to apoptosis or failure of follicle maturation and the decreasing the pool of primordial follicles. We aim to emphasize the need for chromosomal analysis in women with premature ovarian insufficiency leading to primary or secondary amenorrhoea.