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

Abstract

Key clinical message: Empty sella syndrome is a complex syndrome with a diverse clinical presentation. The combination with functional hypogonadotropic hypogonadism is a real challenge for the clinician. Mutations in the CHD7 gene could be a possible, yet unproven, cause of "empty sella" syndrome. Patients with hypogonadotropic hypogonadism should be examined for possible CHD7 mutations, even if they do not have any CHARGE syndrome characteristics.

Abstract: 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. CHD7 gene variant was observed on genetic testing. CHD7 gene mutation was considered as a possible reason for the presence of central hypogonadism and yet unproven genetic cause of "empty sella" syndrome.

Keywords: CHARGE syndrome; CHD7 gene; Kallmann syndrome; empty sella; growth hormone deficiency; hypogonadotropic hypogonadism.