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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Autores principales:	Hussein Majdoub, Serge Amselem, Marie Legendre, Shoshana Rath, Dani Bercovich, Yardena Tenenbaum-Rakover
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2019-06-01
Colección:	Frontiers in Endocrinology
Materias:	POU1F1 gene GH deficiency GHD central hypothyroidism congenital hypothyroidism CH
Acceso en línea:	https://www.frontiersin.org/article/10.3389/fendo.2019.00381/full
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