ESPE Abstracts

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

McCune Albright Syndrome (MAS, OMIM # 174800) is a rare congenital sporadic disorder with an estimated prevalence ranging from 1 in 1,00,000 to 1 in 100,000. MAS is caused by a post-zygotic somatic activating mutation of the GNAS1 gene resulting in an increased GSα protein signaling leading to hyperfunction of glycoprotein hormone receptors, autonomous cell proliferation, and hormonal hypersecretion. The mosaic constitutive activation of this signal transducer is clinical...

Summary Answer: Most primordial/primary oocytes were found to have a 46,XX karyotype. Chromosome patterns of the ovarian cells were different from that observed in other tissues.Background: TS is a chromosomal condition associated with partial or complete absence of one of the two X-chromosomes. Females with TS have a limited reproductive lifespan due to an accelerated loss of germ cells. It has been hypothesized that vi...

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) were created in collaboration with the European Reference Network on Rare Bone Conditions (ERN-BOND). EuRR-Bone collects data using 2 platforms: e-REC, a tool that captures the occurrence of bone and mineral conditions, and the Core Registry which collects a set of Core Data Elements as well as longitudinal patient and clinician reported outcomes in condition specific module...

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...