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The Short Stature Homeobox-containing gene, SHOX, encodes a transcription factor involved in regulation of growth. SHOX haploinsufficient patients including those with Turner syndrome (TS) show growth impairment with or without mesomelic skeletal dysplasia. This study assessed the efficacy of GH in treating short stature associated with SHOX deficiency (SHOX-D). Prepubertal short patients (24 males, 28 females; 3.012.3 years) with molecularly-proven SHOX-D were ra...

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ea0035p931 | Pituitary Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2014

Population-based cohort study: PROP1 gene mutations are the most prevalent cause of congenital multiple pituitary hormone deficiency in Lithuania

Navardauskaite Ruta , Dusatkova Petra , Obermannova Barbora , Pfaeffle Roland W , Blum Werner F , Adukauskiene Dalia , Smetanina Natalija , Cinek Ondrej , Verkauskiene Rasa , Lebl Jan

Introduction: Congenital multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern the early pituitary development. The most prevalent are two mutation of PROP1 gene: the c.296delGA and c.150delA.Methods: Seventy-five Lithuanian MPHD patients were tested for PROP1 defects. Perinatal and postnatal data were obtained from medical records. Hormonal investigations, pituitary imaging and GH the...

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Endocrine Abstracts

SHOX deficiency: does GH treatment do any good?

Population-based cohort study: PROP1 gene mutations are the most prevalent cause of congenital multiple pituitary hormone deficiency in Lithuania

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