ESPE Abstracts

Introduction: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare autosomal recessive skeletal dysplasia, characterized by severe dwarfism and disproportionate shortening of the extremities, predominantly affecting middle and distal limb segments. It results from loss-of-function mutations affecting the C-type natriuretic peptide (CNP) receptor (NPR-B), a transmembrane guanylyl cyclase receptor encoded by the NPR2 gene. Resistance to growth hormo...

Background: The investigation of patients with 46,XY DSD is often difficult, with no definitive diagnosis in more than 50% of cases investigated. We describe a new mutation of MAMLD1 in a patient with 46,XY DSD who also showed an alteration in the NR5A1 gene.Case report: A 5-year-old boy was referred to our clinic for DSD. He was born to non-consanguineous parents and was diagnosed with ambiguous genitalia at birth but had not been previously investigate...

Background: Mitchell Riley syndrome is a rare syndrome caused by mutations in the RFX6 gene, resulting in neonatal diabetes, intestinal atresia, pancreatic abnormalities, and biliary hypoplasia. RFX6 is a winged helix transcription factor that is expressed in the developing pancreas and in the gut endoderm. Previous eight case reports highlight poor outcomes with usually a fatal course in infancy.Case presentation: Twin 2 of a dichorion...

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...

Background: Craniopharyngioma is a benign tumour that develops in the sellar and surrounding parasellar regions, including the hypothalamus and the pituitary gland responsible for the production and regulation of neuropeptides. Oxytocin is a hypothalamic neuropeptide that has been identified as a key modulator of appetite drive and social cognition. Here, we present a case of parent-observed improvements in neurobehavioural dysfunction following administration...

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...

Introduction: Autoimmune Polyglandular Syndrome Type I (APS1) is a rare condition caused by mutations in the AIRE gene (autoimmune regulator). The diagnosis is challenging and delayed due to its non-specific clinical manifestations such as candidiasis, hypoparathyroidism and hypoadrenalism. More than a hundred mutations of this gene have been described and hereby we present a girl who was found to have a novel mutation of AIRE gene with patho...

The main role of the acid-labile subunit (ALS) is to stabilize the IGFBP3/IGF complexes. Pathogenic variants in the gene coding for ALS (IGFALS) results in IGF1 and IGFBP3 deficiency, short stature, delay puberty and insulin resistance. The aim of these study was to identify the genetic cause in a patient with suspected ALS deficiency. The proband is the third son of non-consanguineous parents, evaluated for the first time at 17.3 years due to short stature (−2....