Article
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Jan 2014
Navardauskaite Ruta, Dusatkova Petra, Obermannova Barbora, Pfaeffle Roland W, Blum Werner F, Adukauskiene Dalia, Smetanina Natalija, Cinek Ondrej, Verkauskiene Rasa, Lebl Jan
Abstract excerpt
CONTEXT: PROP1 gene mutations cause multiple pituitary hormone deficiency (MPHD). OBJECTIVE: We sought to expand experience with PROP1 mutation carriers by studying a large cohort of Lithuanian patients. PATIENTS AND METHODS: Sixty-seven MPHD patients were tested for PROP1 defects. Perinatal and postnatal data were obtained from medical records. Hormonal investigations, pituitary imaging, and GH therapy were...
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