ESPE Abstracts

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Objective: Several studies have shown that sleep plays an important role as a modulator of metabolic homeostasis. Indeed, hundreds of studies have been published to examine the relationship between insufficient sleep, late bedtime and obesity. We have studied bedtime snack as another parameter. We suggested that it may be a risk factor for obesity. When we looked at the literature, we could not find any study about bedtime snack in childhood, but there are a few studies in adu...

Objective: Sedentary lifestyle obviously increases the risk of obesity. Reduced physical activity and increased screen-time seem to act as major determinants of the rapid increase of childhood obesity. Prevention of obesity is easier and more practical in comparison with treatment of obesity and its complications. Treatment of childhood obesity not only carries positive biopsychosocial consequences for the child but also serves as an important public health issue by preventing...

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Stüve-Wiedemann syndrome (SWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, neuromuscular abnormalities, dysautonomic symptoms, and respiratory and feeding distress usually resulting in early death.We report a girl, aged 6 years, with SWS. We measured bone mineral density in the lumbar spine, using dual-energy x-ray absorptiometry (DXA) with a densitometer (Hologic). The result is express...