EYES2019 7th ESE Young Endocrinologists and Scientists (EYES) Meeting Oral Presentations (67 abstracts)
1Second Department of Obstetrics and Gynecology, Aretaieio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece; 2Clinical Laboratory of Therapeutic Individualization, National and Kapodistrian University of Athens, School of Medicine, Aretaieio Hospital, Athens, Greece; 3Adolescent Health Unit, Second Department of Pediatrics, National and Kapodistrian University of Athens, School of Medicine, P. and A. Kyriakou Childrens Hospital, Athens, Greece.
Objective: To evaluate the association between genetic background and the presence of oligo- or amenorrhea in a sample of adolescent girls diagnosed with anorexia nervosa compared with controls.
Methods: A total of 40 adolescent girls diagnosed with anorexia nervosa aged 1417 years, as well as 10 age-matched girls, were included in the study. We recorded anthropometric parameters and calculated body mass index (BMI) z-scores adjusted for age, as well as duration of amenorrhea. Blood samples were obtained for genotyping and hormonal assessment. Genetic polymorphisms of MTHFR (methylenetetrahydrofolate reductase C677T and A1298T) GpIIb/IIIa (glycoprotein IIb/IIIa) and prothrombin were investigated.
Results: Presence of the GpIIIa Leu33/Pro was evident almost solely in the subgroup of anorexic girls (cases vs controls, 27.6% vs 5.9%, P-value=0.073). Anorexic girls had higher odds than controls to carry: i) the GpIIa leu33/pro or G20210A mutation (34.5% vs 5.9%, P-value=0.028); ii) the GpIIIa Leu33/Pro mutation or the MTHFR A1298C (62.1% vs 29.4%, P-value=0.032). Furthermore, girls with oligo- or amenorrhoea compared with girls presenting with normal menses had significantly higher prevalence of: i) the GpIIIa Leu33/Pro mutation (30.3% vs 5.9%, P-value=0.048); ii) GpIIIa Leu33/Pro or the G20210A mutation (36.4% vs 5.9%, P-value=0.020); iii) any mutation from the panel, consisting of the GpIIIa Leu33/Pro or MTHFR A1298C (60.6% vs 29.4%, P-value=0.037). Logistic regression analysis proved that the presence of any mutation from the panel, consisting of G20210A or the GpIIIa Leu33/Pro mutation, as well as levels of estrogen, predict the development of amenorrhoea (OR 15.618, P-value=0.043), in a model adjusted for age, BMI z-score and diagnosis of anorexia nervosa.
Conclusions: Genetic background can predict the presence of oligo- or amenorrhea in girls diagnosed with anorexia nervosa.