ESPE Abstracts

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Background: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis and increasing evidence suggests a genetic origin. Premature activation of the GnRH secretion in CPP may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: To identify loss-of-...

Aims: The TEENs study is an international, cross-sectional observational study aiming to assess type 1 diabetes (T1D) management and psychosocial parameters in children, adolescents, and young adults, to identify approaches to optimise glycaemic control and outcomes. Results from 11 European countries are presented.Methods: 111 centres providing diabetes care to young T1D patients collected data by participant interview, medical record review and partici...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype and streak gonad diagnosed late because of absent of pubertal development and primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Family case reports: Al...

Background: In humans, the GHN gene transcription is under the control of a Locus Control Region (LCR) enhancer, HSI, located 14.5 kb 5′ to the hGHN promoter. POU1F1, a pituitary-specific transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and the activation of GHN, PRL and TSH gene transcription. All POU1F1 mutations so far reported have been linke...

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...

Objective: Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation.Methods: Serum serotonin, markers of bone turnover (osteocalcin (OC), procollagen type 1 N-terminal propeptide (PINP), type 1-C telopeptide breakdown prod...

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromat...