Endocrine Abstracts

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; 3.0–12.3 years) with molecularly-proven SHOX-D were ra...

Patients originally diagnosed with IsGHD may develop additional pituitary hormone deficiencies later in life. This study aimed to identify factors that predict development of MPHD and to characterize the time course of specific hormone deficiencies. Pediatric patients with IsGHD were from an observational study (GeNeSIS). Additional hormone deficiency during follow-up was accepted, if indicated by check box on the case report forms, by an adverse event or by starting replaceme...

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...