hrp0094p1-44 | Sex Endocrinology and Gonads A | ESPE2021

Adolescents and young adult men with non-syndromic hypospadias: testicular function and in-depth genetic screening

Tack Lloyd , Spinoit Anne-Francoise , Riedl Stefan , Springer Alexander , Tonnhofer Ursula , Hiess Manuela , Weninger Julia , Mahmoud Ahmed , Tilleman Kelly , Laecke Erik Van , Hoebeke Piet , Juul Anders , Albrethsen Jakob , De Baere Elfride , Verdin Hannah , Cools Martine ,

Background: Hypospadias affects approximately 1/200 newborn males. Based on the testicular dysgenesis syndrome hypothesis, some may be suspected of having persistent testicular dysfunction later in life. Few clinical data currently support this hypothesis.Methods: Cross-sectional assessment of hypospadias cases (n = 193) and controls (n = 50), aged 16-21 years, recruited at Ghent University Hospital and...

hrp0094s11.1 | Calcium and Phosphate Beyond Bone | ESPE2021

Phosphate toxicity: focus on medial vascular calcification

Voelkl Jakob ,

Inorganic phosphate is essential for bone stability and various cellular metabolic pathways. Serum phosphate levels are regulated by an endocrine triangle of calcitriol, parathyroid hormone and fibroblast growth factor 23. In addition, a mineral buffering system is required to prevent mineral stress and ectopic calcification by spontaneous precipitation of calcium and phosphate. Current research indicates a complex interplay of phosphate homeostasis and inflammatory processes,...

hrp0089p2-p340 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Awareness is The Key: Heavy Delay in Diagnosis of 17-β-Hydroxysteroid-Dehydrogenase III Deficiency (17bHSD3D) and Other Insights and Conclusions from a Cohort of Ten 17bHSD3D Patients in Germany

Meinel Jakob , Grossmuller Nadine , Richter-Unruh Annette

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological well...

hrp0092rfc10.4 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

qPCR Screening for Xp21.2 Copy Number Variations in Patients with Elusive Aetiology of 46,XY DSD

Meinel Jakob , Dwivedi Gaurav , Holterhus Paul-Martin , Hiort Olaf , Werner Ralf

Duplications of the dosage sensitive sex locus Xp21.2 have been associated with 46,XY gonadal dysgenesis (GD) for nearly 25 years. In the past, duplications have always included the NR0B1 (nuclear receptor subfamily 0 group B, member 1, also known as DAX1) gene, a known antagonist of SF1 (Steroidogenic Factor 1) dependent SOX9 (SRY Box 9) activation and the GD was attributed to its "double gene dose". However, recent findings have questioned the neces...

hrp0086fc4.6 | Pathophysiology of Obesity | ESPE2016

The Rise and Fall of the Swedish Childhood Obesity Epidemic – The BEST Cohort

Bygdell Maria , Ohlsson Claes , Celind Jimmy , Saternus Jakob , Sonden Arvid , Kindblom Jenny

Background: Childhood obesity increases the risk for adult obesity and cardio metabolic disease.Objective and hypotheses: The aim with the present study was to investigate longitudinal changes of childhood body mass index (BMI), overweight, and obesity in boys born 1946 until present time, using the population-based BMI Epidemiology STudy (BEST) cohort in Gothenburg, Sweden.Method: We collected detailed growth data (height and weig...

hrp0086p1-p13 | Adrenal P1 | ESPE2016

Establishment of Clinical and Lab Algorithms for the Identification Carriers of Mutations in CYP21A2 – A Study of 768 Children and Adolescents

Meinel Jakob , Finckh Ulrich , Schuster Andreas , Haverkamp Thomas , Richter-Unruh Annette

Background: Bi-allelic mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH). Non-classical CAH (NCCAH) or even just hyperandrogenism may be caused by mild or mono-allelic (single) heterozygous mutations of CYP21A2. These mutations are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood.Objective and hypotheses: The objective of this study wa...

hrp0084p3-882 | Fat | ESPE2015

Adipocyte Fatty Acid Binding Protein is Related to Weight Status and Metabolic Risk Markers in Childhood Obesity

Kaepplinger Jakob , Petroff David , Herget Sabine , Reichardt Sandra , Grimm Andrea , Kratzsch Jurgen , Bluher Susann

Background: Adipocyte fatty acid binding protein (aFABP) regulates intracellular transport of fatty acids and seems to be involved in the pathogenesis of the Metabolic Syndrome. aFABP overproduction leads to increased cholesterol and triglyceride accumulation and to higher expression of pro-inflammatory genes. In adults aFABP seems to promote insulin resistance and atherosclerosis, and aFABP levels are significantly higher in obese compared to lean subjects. Fat mass, lipid ma...