ESPE Abstracts

Background: Although the transition from the pre-pubertal condition to puberty occurs physiologically within a bounded age range, recent data indicate a central role for epigenetics in the regulation of several genes that could mediate an alteration of pubertal onset. Moreover, changes occurring during this developmental stage have often been associated with susceptibility to a wide range of diseases in later life. To identify changes in DNA methylation profil...

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

Background: A close association has been reported between obesity and renal damage in adults, but evidence in childhood is still limited.Methods: We retrospectively studied 396 children and adolescents with obesity. Clinical, biochemical, and instrumental evaluations were performed. Patients were stratified according to the metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) phenotypes. Kidney d...

Purpose: The main purpose of the study is to assess the association between obstructive sleep apnea (OSA) and insulin secretion in children with obesity.Objectives: To achieve our aim we have assessed OSA and measured insulin secretion by the using the oral minimal model (OMM) in a cohort of 77 obese children and adolescents.Methods: We retrospectively enrolled children and adolesc...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated for the first time in five families with familial precocious puberty, with a peculiar kind of transmission. In fact, it is an imprinted gene which is expressed only if transmitted from the father. Th...

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...