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The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These characteristic include almost universal congenital central hypothyroidism (CeH) with disharmonious pubertal development (normally timed testicular growth, but delaye...

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Detalles Bibliográficos
Autores principales: Ghanny, Steven, Zidell, Aliza, Pedro, Helio, Joustra, Sjoerd D., Losekoot, Monique, Wit, Jan M., Aisenberg, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638627/
https://www.ncbi.nlm.nih.gov/pubmed/33045800
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0125