ESPE Abstracts

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Background: Osteoprotegerin (OPG) is a cytokine of the tumour necrosis factor receptor family, expressed in various cells types of the body including osteoblasts and endothelial cells. It acts as a soluble decoy receptor of RANK ligand preventing stimulation of osteoclastogenesis. In adults, subclinical hypothyroidism (SH) has been associated with cardiovascular complications. Furthermore several studies have linked OPG levels to increased cardiovascular risk.<p class="abs...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...