[Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation].

ABSTRACT: CHARGE syndrome is a rare autosomal dominant disease caused by CHD7 gene mutations. Individuals with CHARGE display a wide spectrum of clinical features. It might be presented only as a delay puberty, which does not require any hormone replacement therapy to severe CHARGE phenotype, requiring a multidisciplinary therapeutic approach. Wild spectrum of clinical presentation can be seen even among the patients with identical mutation. Diagnosis might be suspected by a combination of major and minor clinical criteria of this disorder, but molecular genetic analysis is mandatory for final verification. Accurate diagnosis is essential to informing patients about all possible clinical features, reproductive status and choosing the correct treatment approach. The most common endocrine abnormality

SUBMITTER: Khabibullina DA 

PROVIDER: S-EPMC9753822 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature