Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation

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 mult...

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Veröffentlicht in:	Problemy ėndokrinologii 2021-05, Vol.67 (3), p.68-72
Hauptverfasser:	Khabibullina, D. A., Kalinchenko, N. Yu, Egorova, S. V., Vasilyev, E. V., Petrov, V. M., Tiulpakov, A. N.
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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