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A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

Loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males. Central hypothyroidism in males is the hallmark of the disorder, however some patients additionally present with hypoprolactinem...

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Detalles Bibliográficos
Autores principales: Türkkahraman, Doğa, Karataş Torun, Nimet, Randa, Nadide Cemre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8388056/
https://www.ncbi.nlm.nih.gov/pubmed/32772515
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0149