Searchable abstracts of presentations at key conferences in endocrinology

ea0016p602 | Paediatric endocrinology | ECE2008

Molecular genetic analysis of a patient with hyperinsulinism and deafness

Brusgaard Klaus , Albalwi Mohammed , Svargo Lone , Christesen Henrik

Congenital hypoglycemic hyperinsulinemia (CHI) is a clinical and genetic heterogeneous entity. Clinical manifestations can vary from serious life threatening to milder difficultly identifiable cases. Children who do not react adequate to medical treatment are subject to pancreatic recession. The molecular ethiology are from recessive mutations of the ABCC8 (SUR1) and KCNJ11 (Kir6.2) to dominant mutations of the GCK or GDH genes. Focal dysplasia char...

ea0014oc12.2 | Diabetes | ECE2007

Uncoupling protein 2 mutations – a new explanation for congenital hyperinsulinism?

Thybo Christesen Henrik , Hussain Khalid , Svargo Lone , Brock Jacobsen Bendt , Brusgaard Klaus

Background: Congenital Hyperinsulinism (CHI) is genetically unexplained today in up to 50% of the patients with persistent or recurrent disease. The uncoupling protein 2 (UCP2) gene is a candidate gene for medical-responsive CHI, since knock out studies have shown that UCP2 deficiency leads to increased glucose-stimulated insulin secretion.Patients and methods: In a large series of 142 patients with transient, persistent or recurrent CHI, we examined for...

ea0014p69 | (1) | ECE2007

KCNJ11 and ABCC8 promotor variants in congenital hyperinsulinism

Brusgaard Klaus , Hussain Khalid , Svargo Lone , Brock-Jacobsen Bendt , Christesen Henrik

Congenital hypoglycemic hyperinsulinemia (CHI) is a clinical and genetic heterogeneous entity. Clinical manifestations can vary from serious life threatening to milder difficultly identifiable cases. Children who don’t react adequate to medical treatment are subject to pancreatic recession. The molecular ethiology are from recessive mutations of the ABCC8 (SUR1) and KCNJ11 (Kir6.2) to dominant mutations of the GCK or GDH genes. Focal dysplasia ...

ea0099p361 | Reproductive and Developmental Endocrinology | ECE2024

Prenatal testosterone exposure and offspring body composition at 7 years-of-age. odense child cohort

Palm Camilla , Glintborg Dorte , Grontved Anders , Jensen Dorte , Hansen Freja , Jorgensen Jan , Christesen Henrik , Jensen Tina , Andersen Marianne

Background: Maternal free testosterone (FT) increases during 3rd trimester pregnancy and FT levels are higher in women with polycystic ovary syndrome (PCOS) compared to controls. Fetal exposure to maternal FT during 3rd trimester was associated with lower weight, length and shorter abdominal circumference at birth, in boys. Furthermore, lower birth weight has been related to higher abdominal fat mass in young children.Aim: To examine associations between...

ea0090rc9.5 | Rapid Communications 9: Adrenal and Cardiovascular Endocrinology 2 | ECE2023

Higher maternal cortisol associated with lower blood pressure in offspring from 3 months to 5 years of age in the odense child cohort

Al-Jorani Hajir , Christian Jensen Richard , Jonasson Mikaela , Birukov Anna , Schmedes Anne Vibeke , Christesen Henrik Thybo , Dreyer Anja Fenger , Jensen Tina Kold , Glintborg Dorte , Jensen Boye Lagerbon , Andersen Marianne

Background: Synthetic glucocorticoid exposure in late pregnancy may be associated with higher blood pressure in offspring. We hypothesized that endogenous cortisol in pregnancy relates to offspring blood pressure (OBP).Objective: To investigate associations between maternal cortisol status in 3rd trimester pregnancy and OBP.Methods: We included 1,317 mother-child pairs from Odense Child Cohort (OCC), an observational prospective co...