ESPE Abstracts

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

Introduction: Recently the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. Therefore, it is useful to conduct genetic study in children with type 2 feature to understand underlying cause of glycemic dysregulation as well as for the management of diabetes mellitus.Case</stron...

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

Introduction: Mitochondrial-derived peptide (MOTS-c) is originated from the 12S ribosomal region of mitochondrial DNA. MOTS-c functions as an activator of AKT and AMPK, which are involved in the insulin signaling pathway. In experimental studies, MOTS-c administration was shown to reduce insulin resistance and obesity. Besides, MOTS-c levels were decreased and negatively correlated with insulin resistance in obese male children. In male cases, the MOTS-c</...

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...