Endocrine Abstracts

Rare cases of Cushing’s syndrome have been diagnosed only based upon bone manifestations. Fracture risk is related to individual susceptibility to glucocorticoids that is genetically determined by several factors, including VDR gene polymorphism.We report three patients with VDR FokI gene polymorphism and multiple non-traumatic pathologic fractures as the presenting manifestation of Cushing’s syndrome.The second case is a...

Objective: Differences in body weight and clinical features of typical vs atypical anorexia nervosa (A.N) might be explained by the genetic background. We aimed to evaluate the association between the subtypes of A.N. and the genetic polymorphisms of the thrombotic panel or the methyltetrahydrofolate reductase (MTHFR) gene.Methods: A total of 40 adolescent girls with A.N., aged 13–19 years, were evaluated. We recorded anthropometric parameters, amen...

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 wel...

Introduction: Single nucleotide polymorphic variants of the methylenetetrahydrofolate reductase (MTHFR) gene have been related with a tendency to gain weight according to recent studies. The aetiology of atypical anorexia nervosa remains under investigation and might be associated with the genetic background. The aim of this study was to evaluate the association between the presence of A1298C or C677T polymorphisms of the MTHFR gene and weight status in a sample of adolescent ...

Introduction: The aim of this study was to investigate the association between the genetic background of coagulation factors and the presence of oligo- or amenorrhea in adolescent girls diagnosed with anorexia nervosa compared with controls.Patients and 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 calcu...