A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

IGSF1 deficiency is a rare X-linked condition characterized by central hypothyroidism and a wide variety of other clinical features with variable prevalence, including a delayed pubertal testosterone rise and growth spurt in the context of normal or accelerated testicular growth, and adult macroorch...

Descripción completa

Detalles Bibliográficos
Autores principales: Kardelen, Aslı Derya, Karakılıç Özturan, Esin, Poyrazoğlu, Şükran, Baş, Firdevs, Ceylaner, Serdar, Joustra, Sjoerd D., Wit, Jan M., Darendeliler, Feyza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683549/
https://www.ncbi.nlm.nih.gov/pubmed/35466665
http://dx.doi.org/10.4274/jcrpe.galenos.2022.2021-12-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683549/
https://www.ncbi.nlm.nih.gov/pubmed/35466665
http://dx.doi.org/10.4274/jcrpe.galenos.2022.2021-12-3

Ejemplares similares