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A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant

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. P...

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Detalles Bibliográficos
Autores principales: Petrov, Sava, Babadzhanova, Ekaterina, Orbetzova, Maria, Ivanov, Hristo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256875/
https://www.ncbi.nlm.nih.gov/pubmed/37305875
http://dx.doi.org/10.1002/ccr3.7492