ESPE Abstracts

Background: The renal cysts and diabetes (RCAD) syndrome caused by defects in the HNF1B is characterized by a broad spectrum of clinical features. While heterozygous point mutations are relatively rare, we focused on gross deletions of the HNF1B that are determined by multiplex ligation probe-dependent amplification (MLPA). Rather importantly, the deletions most often extend beyond the single HNF1B, thus more deleted genes may participate in the clin...

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...

Background: Congenital Hyperinsulinism (CHI) is a common cause of persistent hypoglycaemia in the neonatal and infant period. It is most commonly caused by mutations in one of the KATP channel subunits, either SUR1 encoded by the gene ABCC8 or Kir6.2 encoded by the gene KCNJ11. Patients carrying mutations in the ABCC8 and KCNJ11 genes simultaneously have not been reported yet.Objective and hypotheses: Our aim was to describe the clinical pheno...

Background: Congenital Hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. To assess the pathogenic effect of novel ABCC8 mutations we performed in-vitro functional studies.Objective and hy...

Background: Neonatal hyperinsulinaemic hypoglycaemia (HH) has recently been recognized as a consequence of mutations in HNF1A, which also cause maturity-onset diabetes of the young (MODY) later in life.Aims: To report phenotypic and genetic investigations of two patients with functional characterisation of identified mutations in HNF1A.Case reports: Two unrelated patients presented with HH requiring i.v. glucose a...

Background: Approximately 10% of children born small for gestational age (SGA) fail to catch-up nd remain short (SGA-SS). Although several mechanisms causing SGA-SS have been elucidated, the primary cause remains speculative in most cases.Aim: To decipher genetic causes of SGA-SS defined as birth length and/or birth weight <-2 SD for gestational age, and body height <-2.5 SD after the 3rd year of life within a larg...

Introduction: Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated thus far. The aim of the study was to identify the monogenic etiology and its clinical predictors in FSS children.Patients and Methods: Of 747 pat...

Introduction: The genetic investigation of tall stature (TS) is routinely indicated only in children with clinical suspicion of a specific syndrome associated with TS. After ruling out an endocrine disorder, the remaining tall children mostly receive a clinical diagnosis of “idiopathic” (ITS) or “familial” tall stature (FTS). The aetiology of their TS remains unknown.Aims: To elucidate genetic cau...

Introduction: The diagnosis of growth hormone deficiency (GHD) is complex, involving the combination of auxological, laboratory, and radiological findings. This includes growth hormone (GH) stimulation tests, which are done to confirm the diagnosis. It has been discussed that these tests have low specificity, potentially leading to false positive results. Therefore, children with GHD are regarded as a heterogeneous group with varied causes of short stature. Ne...

Introduction: C-type natriuretic peptide receptor encoded by NPR2 gene stimulates chondrocyte differentiation and hypertrophy and extracellular matrix production within the growth plate. The phenotypical spectrum of NPR2 mutations is broad, from severe autosomal recessive acromesomelic dysplasia to milder autosomal dominant growth disorders. Some children with NPR2 variants are treated with growth hormone (GH), however, with the inco...