The De Novo Q167K Mutation in the POU1F1 Gene Leads to Combined Pituitary Hormone Deficiency in an Italian Patient

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Mutation of the PIT1 Gene in a Patient Pituitary Hormone Deficiency

PIT1 abnormality is defined as a genetic abnormality in the PIT1 gene that encodes a pituitary specific transcription factor, Pit-1/GHF-1. PIT1 abnormality indicates combined deficiency of thyrotropin (TSH), growth hormone (GH) and prolactin (PRL), and has been reported in several cases. We studied the PIT1 gene in a patient with combined deficiency of TSH, GH and PRL. A novel mutation substitu...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 2003

ISSN: 0031-3998,1530-0447

DOI: 10.1203/01.pdr.0000084113.41375.1e