MTHFR Polymorphisms in Girls with Anorexia Nervosa: Implications on Body Weight.

The development of atypical vs typical anorexia nervosa (AN) might be explained by the genetic background. We assessed the link between the subtypes of AN and the genetic polymorphisms of the thrombotic panel and the methyltetrahydrofolate reductase (MTHFR) gene. This cross-sectional pilot study recruited 48 girls with AN and 10 age-matched control girls with normal menstruation. We recorded anthropometric parameters and obtained blood samples for genotyping and hormonal assessment. Classification of AN was performed according to the DSM-V criteria. Girls with AN had 2.66 times higher odds of carrying at least one genetic polymorphism from the MTHFR panel (C677T and A1298C) compared with girls without AN (OR = 2.660, p-value = 0.041; CI 95% 1.057-6.720). The presence of atypical vs typical AN was associated independently with the presence of any of the assessed MTHFR polymorphisms (C677T, OR = 4.929, 95% CI 1.076-22.579, p-value = 0.040; A1298C, OR = 0.097, 95% CI 0.011-0.866, p-value = 0.037) in age and estrogen adjusted models. The atypical presentation of AN is mainly linked with higher prevalence of the MTHFR C677T and lower prevalence of the A1298C polymorphism.

Serum kisspeptin concentrations are negatively correlated with body mass index in adolescents with anorexia nervosa and amenorrhea.

OBJECTIVE: To measure, for the first time, serum kisspeptin concentrations in adolescent females with anorexia nervosa (AN) and associated amenorrhea, and investigate potential correlations of kisspeptin with anthropometric, bone and hormonal data. DESIGN: Setting: University Adolescent Medicine Center. PARTICIPANTS: Females aged 12-20 years with typical or atypical AN (based on DSM-5 diagnostic criteria) and controls. INTERVENTIONS: Measurement of body mass index (BMI), whole body/lumbar spine bone mineral density and serum concentrations of kisspeptin, follicle stimulating hormone, luteinizing hormone (LH), prolactin (PRL), thyroid stimulating hormone (TSH), free thyroxine, triiodothyronine, estradiol (E2), 17-hydroxyprogesterone. MAIN OUTCOME MEASURES: Kisspeptin serum concentrations and correlations between kisspeptin and AN-related anthropometric, bone and hormonal changes. RESULTS: Participants included 37 females, 22 with AN (typical AN group=17, atypical AN group=5) and 15 in the control group. All typical AN patients had secondary amenorrhea. Wide inter-subject variation (101.9-709.1 ng/L) in kisspeptin levels was observed with no significant differences among study groups; there was a trend toward higher concentrations in the atypical AN group. Adolescents with typical AN had significantly lower BMI (P<0.001), lumbar spine z-score (P=0.016), serum E2 (P<0.001), LH (P=0.016), PRL (P=0.034) and TSH (P=0.045) than controls. They also had lower BMI (P=0.009) and TSH (P=0.027) than girls with atypical AN. An inverse correlation between BMI and serum kisspeptin was noted in the typical AN group (r=-0.60, P=0.012). CONCLUSIONS: Serum kisspeptin concentrations overlapped between patients and controls; in typical anorexic adolescents kisspeptin concentrations were negatively correlated with BMI. Future studies are needed to explore kisspeptin physiology in AN.

Pregnancy outcome after oocyte donation in patients with Turner's syndrome: Clinical experience and management.

Turner's syndrome (TS) is a chromosomal defect with partial or total absence of the X chromosome. Our objective is to report our experience in Greece with patients suffering from TS and trying to conceive; therefore, we present four patients with TS, who underwent In vitro fertilization (ICSI) with donor oocytes in order to get pregnant. Three out of four patients managed to conceive and bring pregnancy to completion. It was shown that patients diagnosed in childhood or adolescence with TS have the possibility to undergo hormone replacement therapy (HRT) and thus, secondary sexual characteristics as well as uterus of almost normal size can develop. Assisted reproduction techniques (ART), predominantly with donated oocytes, could give these patients the possibility to have children.