ESPE Abstracts

Objective: Premature ovarian insufficiency (POI) is rare in adolescents, most commonly caused by genetic defects or cytotoxic therapy. The aim is to present the case of an adolescent girl with normal pubertal progress and irregular menstrual cycle, followed by amenorrhea.

Case presentation: A 15 9/12-years-old girl presented because of lack of menses for the previous 21 months. She reported that she had menarche at the age of twelve years followed by three normal menstrual cycles since then, with the last one being at the age of 14 years. Her past medical history was uneventful. Her family medical history was unremarkable as well. The physical examination revealed no dysmorphic features, body weight was 62,8 kg (75th-90th percentile) and height 156 cm (25th-50th percentile), within her target height range. She had normal pubertal development, with Tanner stages (Breast IV, Axillary hair III, Pubic hair V). Laboratory investigations revealed elevated gonadotropins FSH:96,64 mIU/ml, LH:60 mIU/ml, undetectable estradiol: <5 pg/ml and anti-mullerian hormone:0,01ng/ml. Thyroid function and prolactin levels were within normal range. Pelvic ultrasound showed prepubertal development of the uterus with a maximum diameter of 36,4 mm and small ovaries (Right volume: 1cm³, left volume: 1,1cm³). In the MRI scan, the ovaries were recognized as cystic structures with a maximum diameter of 11mm and 16mm respectively. With the diagnosis of secondary amenorrhea due to hypergonadotropic hypogonadism of unknown etiology, genetic consultation was suggested and a karyotype analysis followed. Karyotype using a conventional cytogenetic analysis detected a deletion in the long arm of chromosome X, resulting in female 46, Χ, del(X)(pter→q21.2:) karyotype. The finding was considered de novo as parental karyotypes were normal. Her bone density was -1,1 z-score by Dual-energy x-ray absorptiometry, at the lower normal limit, prior to the beginning of the therapy. After the identification of the POI cause, estradiol replacement therapy was initiated and she’s followed since then on a regular basis, while pelvic ultrasound shows progression from prepubertal to pubertal development of the uterus (uterus size: 7,41×2,29×1,91 cm).

Conclusion: Chromosomal changes regarding the Xq are associated with abnormal menstruation and infertility. Great variability of phenotype is appreciated in women with Xq deletions, thus genetic counselling is still challenging. In more distal Xq deletions premature ovarian failure seems to be more common than primary amenorrhea. Regular monitoring of the patients is required in order to elucidate the evolution of the phenotype.