hrp0084fc6.3 | Gonads & DSD | ESPE2015

Establishing the Role of the Steroid Backdoor Pathway for Androgen Biosynthesis in the Human Ovary

Marti Nesa , Sauter Kay S , Mullis Primus E , Fluck Christa E

Background: Recent work revealed two pathways in androgen biosynthesis, namely the classic and an alternative, the backdoor pathway. In this alternative pathway dihydrotestosterone is produced from 17-hydroxyprogesterone without the intermediacy of testosterone using mostly enzymes that are specific to the backdoor path. In the human ovary, regulation of androgen production plays a crucial role in normal physiology and in pathologies such as the polycystic ovary syndrome (PCOS...

hrp0084p1-76 | Fat | ESPE2015

Endothelial Progenitor Cells in Obese Non-Diabetic Children and Adolescents: Relations to Some Metabolic Parameters, Echocardiographic Parameters and Tissue Doppler Imaging

Ahmed Alaa , Youssef Omneya , Thabet Botheina

Background: Endothelial progenitor cells (EPCs) are involved in the regeneration of the endothelial lining following blood vessel injury. The reduction in the number of EPCs was postulated to be associated with the initiation and progression of cardiovascular disease.Objective and hypotheses: This study aimed at exploration of the number of EPCs in obese non-diabetic children and adolescents and their relation to the fasting lipid levels, fasting glucose...

hrp0084p2-211 | Bone | ESPE2015

Fibrous Cortical Defects and Non-Ossifying Fibromas in Patients with Precocious Puberty

Lee Bang Won , Shin Kyung-Sue

Background: Fibrous cortical defects (FCDs) and non-ossifying fibromas (NOFs) are the most common benign lesions of the skeletal system, with an estimated incidence of up to 30% in children and adolescents.Objective and hypotheses: Although their aetiologies are unknown, FCDs and NOFs develop mostly in regions of intense bone growth. We hypothesized that patients with precocious puberty (PP) would have a higher prevalence of FCDs and NOFs than age-matche...

hrp0084p2-466 | Growth | ESPE2015

Whole Exome Sequencing Identifies De Novo HRAS Mutation Underlying Primary IGF1 Deficiency (PIGFD)

Grosse Greta , Hilger Alina , Draaken Markus , Ludwig Michael , Reutter Heiko , Lorenzen Franziska , Woelfle Joachim

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...

hrp0084p2-564 | Thyroid | ESPE2015

Are Children with Congenital Primary Hypothyroidism Overtreated?

Sechter Claire , Vasseur Francis , Cartigny-Maciejewski Maryse , Gueorguieva Iva , Stuckens Chantal , Weill Jacques

Background: Treatment of congenital primary hypothyroidism (CPHT) fluctuates between two opposite risks for the neuro-cognitive development in a critical window during the neonatal period, under- and over-treatment.Objective: To investigate the relevance of current international recommendations of 10–15 μg/kg per day for L-thyroxine (lT4) doses in CPHT.Method: fT4 and TSH were measured...

hrp0084p3-1235 | Turner | ESPE2015

Turner Syndrome in Iceland 1968–2012: Congenital Anomalies and Clinical Outcomes

Sigmarsdottir Arndis A , Johannsson Johann H , Sigurjonsdottir Helga A , Thorsson Arni V

Background: In 1968 a cytogenetics laboratory was established at the University Hospital, Reykjavik and has since then served as the only chromosomal laboratory for all hospitals and physicians in Iceland. Our current aim was to study the physical features, congenital anomalies and various clinical outcomes in Icelandic females, diagnosed with Turner syndrome (TS) for the period of 1968–2012.Method: Data was obtained from hospital records, from all ...

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...

hrp0097ha2 | Effect of omega-3 fatty acids supplementation on renal glomerular and tubular integrity and subclinical atherosclerosis in children and adolescents with type 1 diabetes: A randomized controlled trial | ESPE2023

Effect of omega-3 fatty acids supplementation on renal glomerular and tubular integrity and subclinical atherosclerosis in children and adolescents with type 1 diabetes: A randomized controlled trial

Elbarbary Nancy , Abdel Rahman Ismail Eman , Abdelaal Mohamed Sarah

Background: Numerous studies have evaluated the beneficial effects of omega-3 fatty acids on inflammatory, autoimmune and renal diseases. However, data about the effects of omega-3 fatty acids on diabetic kidney disease in type 1 diabetes mellitus (T1DM) are lacking.Objectives: This randomized-controlled trial assessed the effect of oral omega-3 supplementation on glycemic control, lipid profile, albuminuria level, kidne...

hrp0098p1-89 | Sex Endocrinology and Gonads 1 | ESPE2024

Organokines and liver enzymes in adolescent girls with polycystic ovary syndrome during randomized treatments

Garcia-Beltran Cristina , Peyrou Marion , Navarro-Gascon Artur , López-Bermejo Abel , de Zegher Francis , Villarroya Francesc , Ibáñez Lourdes

Introduction: Polycystic ovary syndrome (PCOS) is often related to metabolic associated fatty liver disease (MAFLD). MAFLD has been associated with altered hepatic function and systemic dysmetabolism and with abnormal circulating levels of signaling molecules, so-called organokines. Here, we assessed the effects of two randomized treatments on a set of organokines in adolescent girls with PCOS and without obesity, and report the associations with circulating b...

hrp0095fc9.3 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Therapeutic outcomes in gonadotropin-replaced males with congenital hypogonadotropic hypogonadism (CHH) with identified genetic variants

Rohayem Julia

Background: To delineate testicular responses to gonadotropin replacement in young males with genetically proven CHH.Patients and Methods: In n=72 young males with CHH and at least one variant detected within twenty-four investigated known CHH genes, gonadotropin replacement with hCG and rFSH s.c. was performed over a mean of 2±1 years. Bi-testicular volumes and serum Inhibin B served as baseline parameters, ...