hrp0086fc5.2 | Management of Disorders of Insulin Secretion | ESPE2016

Diabetes and Insulin Injection Modalities: Effects on Hepatic Expression and Activity of 11β-Hydroxysteroid Dehydrogenase Type 1 in Juvenile Diabetic Rats

Rougeon Veronica , Moisan Marie-Pierre , Barthe Nicole , Beauvieux Marie-Christine , Marissal-Arvy Nathalie , Barat Pascal

Background and hypotheses: Recent results showing elevated tetrahydrocortisol/tetrahydrocorticosterone ratio (THFs/THE) in morning urines of diabetic children compared to controls suggest an increased nocturnal activity of 11 β-hydroxysteroid dehydrogenase type 1 (11β-HSD1). We made the hypothesis that a reduced inhibition of hepatic 11β-HSD1 activity by exogenous insulin, due to its subcutaneous (SC) administration and absence of first hepatic passage, could ex...

hrp0086wg7.4 | ESPE Paediatric Endocrine Nurse Specialists and Allied Health Professionals Working Group (PENS) | ESPE2016

Poster Review

Kirouac Nicole

Background: Pediatric Endocrine Nurses are experts in caring for children with Endocrine conditions. Many nurses do not have the confidence, knowledge and technical skill set to produce poster presentations that allow them to share this expertise.Objective and hypotheses: This session will give Pediatric Endocrine Nurses an opportunity to hear how a poster presentation can be developed, from an idea to the final product. Nurses will feel empowered to tak...

hrp0084wg7.5 | Nurse Specialits and Allied Health Professionals | ESPE2015

Pan-Canadian Experience of Pediatric Endocrine Nurses Assisting Youth Through Gender Transition

Kirouac Nicole

Background: Increasing referrals for transgender youth demonstrated a lack of local interprofessional comprehensive programs for transgender youth. Pediatric endocrine clinics across Canada have collaborated with other disciplines to provide increasingly comprehensive assessment and treatment programs for transgender youth.Objective and hypotheses: Share a case study of a Canadian youth’s experience with the Gender Dysphoria Assessment and Action fo...

hrp0086p2-p793 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Nursing Perspective: Best Practices for Pubertal Suppression for Individuals with Central Precocious Puberty and Transgender

Pyra Eileen , Kirouac Nicole

Background: Through nursing collaboration within the Canadian Pediatric Endocrine Nurses (CPEN) network it has become evident that there are differences in practices across the country in the suppression of puberty.Objective and hypotheses: Exploration of these differences for pubertal suppression in Central Precocious Puberty (CPP) and Transgender (TG) youth coupled with a thorough search of current literature can inform future best pra...

hrp0092fc13.1 | Adrenals and HP Axis | ESPE2019

Peptide MC2R Antagonists as a New Potential Therapeutic Approach for Congenital Adrenal Hyperplasia

Schubert Tina , Nicke Lennart , Schanze André , Reisch Nicole , Geyer Armin , Koehler Katrin , Huebner Angela

Current hormone substitution therapy of patients with congenital adrenal hyperplasia (CAH) is suboptimal and cannot mimic physiological daily rhythms of hormone secretion. As supra-physiological corticoid doses are necessary to avoid adrenal androgen excess, patients show substantially increased comorbidities such as hyperglycemia, arterial hypertension, reduced growth and osteoporosis. Moreover plasma ACTH is often inadequately suppressed, resulting in undesired excess adrena...

hrp0089p1-p072 | Diabetes & Insulin P1 | ESPE2018

Increasing Use of Continuous Glucose Monitoring (CGM) Among Youth with Type 1 Diabetes (T1D): Icomparison of Youth from the T1D Exchange (T1DX) and the DPV Initiative

Miller Kellee , Hermann Julia , Maahs David , Hofer Sabine , Foster Nicole , Holl Reinhard

Objectives: To assess change in rates of pediatric CGM use over the past 5 years across demographic and clinical characteristics and association with hemoglobin A1c (HbA1c), data from 2 registries were compared: the US-based T1DX and the German/Austrian DPV.Methods: Registry participants in DPV and T1DX aged <18yrs with T1D duration ≥ 1yr with available data in any of the following years were included in the analysis (N for each year by registr...

hrp0084p2-308 | DSD | ESPE2015

MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis

Kohler Birgit , Gehrmann Nicole , Gruters-Kieslich Annette , Bignon-Topalovic Joelle , McElreavey Kenneth , Bashamboo Anu

Background: 49,XY gonadal dysgenesis (GD) is a very rare disorder of testes development with an incidence of 1:50–100 000. MAP3K1 is a MAPK that mainly regulates the MAPK pathways. High Map3k1 expression was found in female and male mice gonads at 13.5 dpc. In 2010, MAP3K1 mutations were identified in two families with complete and partial XY GD and in two unrelated sporadic cases with complete XY GD (Pearlman 2010 AJMG). Recently, four additional mutations (four out of 4...

hrp0094p2-411 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Rationale for a reduced dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling

Neumann Uta , Stachanow Viktoria , Blankenstein Oliver , Fuhr Uwe , Huisinga Wilhelm , Reisch Nicole , Kloft Charlotte

Context: Prenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg/d has been used for decades in prenatal CAH. Despite the risks for the treated mother and potentially for the unborn child, no clinical study or evaluation had been conducted in order to determine a Dex dose with a scientific rat...

hrp0092t8 | Top 20 Poster | ESPE2019

Bone Mineral Density (BMD) in Women with Turner Syndrome (TS) from the DSD-LIFE Cohort, an Epidemiological Study

Pienkowski Catherine , El Allali Yasmine , Cartault Audrey , Ernoult Perrine , Grunenwald Solange , Reish Nicole , Claahsen-Van Hedi , Salles Jean-Pierre

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

hrp0086lbp7 | (1) | ESPE2016

Loss of Functional Osteoprotegerin: More than a Skeletal Problem

Grasemann Corinna , Unger Nicole , Hovel Matthias , Arweiler-Harbeck Diana , Lausch Ekkehart , Meissner Thomas , Hauffa Berthold P. , Shaw Nick

Background: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.Objective and hypotheses: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carrie...