Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Background: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin, and prolactin deficiencies, commonly presenting with growth r...

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Detalles Bibliográficos
Autores principales: Majdoub, Hussein, Amselem, Serge, Legendre, Marie, Rath, Shoshana, Bercovich, Dani, Tenenbaum-Rakover, Yardena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610292/
https://www.ncbi.nlm.nih.gov/pubmed/31316460
http://dx.doi.org/10.3389/fendo.2019.00381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610292/
https://www.ncbi.nlm.nih.gov/pubmed/31316460
http://dx.doi.org/10.3389/fendo.2019.00381

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