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Endocrine Abstracts (2019) 67 O49 | DOI: 10.1530/endoabs.67.O49

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 Children’s 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 14–17 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.

Volume 67

7th ESE Young Endocrinologists and Scientists (EYES) Meeting

European Society of Endocrinology 

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