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 inf

SUBMITTER: Petrov S 

PROVIDER: S-EPMC10256875 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature