Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation
| Autor: | Vasiliy Petrov, Anatoly Tiulpakov, S. V. Egorova, Evgeniy Vasilyev, D. A. Khabibullina, N. Yu. Kalinchenko |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Coloboma business.industry Hypogonadism Endocrinology Diabetes and Metabolism DNA Helicases Autosomal dominant trait 030105 genetics & heredity Bioinformatics medicine.disease DNA-Binding Proteins 03 medical and health sciences Therapeutic approach CHARGE syndrome Phenotype 030104 developmental biology Transgender hormone therapy Hypogonadotropic hypogonadism Mutation (genetic algorithm) medicine Humans CHARGE Syndrome Abnormality business |
| Zdroj: | Problems of Endocrinology. 67:68-72 |
| ISSN: | 2308-1430 0375-9660 |
| DOI: | 10.14341/probl12748 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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