ESPE Abstracts

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

Background: 125 patients between the ages of 6 and 12 years old were studiet, 100 of them were girls and 25 were boys. All of them were on medication with TSH. They were all residents in urban areas belonging to middle/upper strata of society.Objective and hypotheses: Changing it for the ingestion of nutriments. Physical exercise during at least 5 days a week. Medical treatment consisting of ferrous fumarat and folic acid.Method: D...

Gestational Diabetes (GDM) increases risk of developing type 2 diabetes in the mother and child later in life however, despite the increasing prevalence of GDM, its molecular mechanism remains unknown. A recent Genome-Wide Association Study (GWAS) identified a unique genetic association of the novel 5th hexokinase, hexokinase domain component-1 (HKDC1) to gestational glucose tolerance at 28 weeks of gestation linking it to GDM. We have previously shown that liver-specific over...

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

Background: Inherited epidermolysis bullosa (EB) comprises a cluster of genetic disorders characterized by blistering of skin and mucosae following minimal mechanical traumas. Severely affected individuals have high risk of extracutaneous complications, including chronic undernourishment and low bone mass.Objective and hypotheses: The aims of this study were to assess the areal bone mineral density (aBMD) and vitamin D status of children and adolescents ...

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by intestinal hyperabsorption and decreased biliary excretion of dietary plant sterol, due to mutations in adenosine-triphosphate (ATP)-binding-cassette (ABC) transporter family (ABCG8 and ABCG5).Case report: A 7.86 years old boy was referred to the Childhood Lipid Clinic due to incidental finding of hypercholesterolemia: total cholesterol 524 mg/dl (13.54 mmol/l), LDL-choles...

Background: With improvements in assays and an increasing need for non-invasive out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (uGn) for assessing pubertal progress.Objective and hypotheses: This study aims to establish the correlation between serum and urinary LH and FSH in patients with pubertal concerns.Method: 36 boys and girls aged 14.9 years (range 7.8–17.3) and 9.5 yea...