A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant.

Empty sella is an anatomo-radiological finding characterized by arachnoid herniation into the sellar fossa with reduction of pituitary volume and/or pituitary stalk compression). We report a clinical case of 35-year-old identical male twins, admitted to the clinic of endocrinology and metabolic diseases with history of infertility, hormonal constellation of hyposomatotropism and hypogonadotropic hypogonadism. The patients presented with hyposmia. Magnetic resonance imaging (MRI) of the hypothalamic-pituitary region revealed the presence of partial empty sella. gene variant was observed on genetic testing. gene mutation was considered as a possible reason for the presence of central hypogonadism and yet unproven genetic cause of "empty sella" syndrome.