ESPE Abstracts

Spondylo-epimetaphyseal dysplasia -ACAN (SEMD- ACAN) is a rare form of osteo-chondrodysplasia that represents a group of vertebral, epiphyseal, and metaphyseal dysplasia. This genetic condition is caused by biallelic loss-of-function mutations in the ACAN gene, which encodes for aggrecan, an essential component of the extracellular matrix in cartilage. Biallelic loss-of-function mutations in this gene result in a range of characteristic symptoms, including disproportionate sho...

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...

Introduction: Although the majority of the cases with obesity have a multifactorial etiology, rare monogenic forms of obesity exist. Several genetic disorders have been described that lead to early onset monogenic obesity. Leptin (LEP), leptin receptor (LEPR), melanocortin 4 receptor (MC4R), proprotein converting protein subtilisin / kexin-type 1 (PCSK1) and proopiomelanocortin (POMC) are the genetic mutations that have been most frequently shown to cause mono...

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...