Familial case of hypogonadotropic hypogonadism as the charge syndrome manifestation

0Citations
Citations of this article
6Readers
Mendeley users who have this article in their library.

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 in patients with CHARGE syndrome is the disturbance in gonadotropins function ranged from delay puberty to persistent hypogonadotropic hypogonadism with different olfactory phenotypes, resulted by specific role of CHD7 in GnRH neuronal embryogenesis. We describe a familial case of CHARGE syndrome with significant intrafamilial clinical heterogeneity due to CHD7 gene mutation.

Cite

CITATION STYLE

APA

Khabibullina, D. A., Kalinchenko, N. Y., Egorova, S. V., Vasilyev, E. V., Petrov, V. M., & Tiulpakov, A. N. (2021). Familial case of hypogonadotropic hypogonadism as the charge syndrome manifestation. Problemy Endokrinologii, 67(3), 68–72. https://doi.org/10.14341/probl12748

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free