hrp0082fc6.5 | Gonads & DSD | ESPE2014

Serum Levels of AMH Reflect Ovarian Morphology by MRI in 109 Healthy Peripubertal Girls

Hagen Casper P , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Fallentin Eva , Anderson Richard A , Main Katharina M , Juul Anders

Background: In adult women, serum levels of AMH reflect both the number of small growing follicles and remaining primordial follicles. AMH levels range 15 fold between healthy girls. Interpretation of AMH is contentious due to minor intra-individual changes around time of pubertal onset despite continuous loss of primordial follicles.Objective and Hypotheses: To describe ovarian morphology (volume, follicles) in healthy girls and adolescents in relation ...

hrp0084p2-330 | Fat | ESPE2015

Abdominal fat Distribution Measured by Magnetic Resonance Imaging in 197 Children Aged 10–15 Years – Correlation to Anthropometry and Dual X-Ray Absorptiometry

Tinggaard Jeanette , Hagen Casper P , Mouritsen Annette , Mieritz Mikkel G , Wohlfahrt-Veje Christine , Fallentin Eva , Larsen Rasmus , Christensen Anders N , Jensen Rikke B , Juul Anders , Main Katharina

Background: Obesity in childhood is defined by age- and sex-specific BMI cut-off values. However, BMI does not disclose the distribution of fat mass. Increased abdominal adipose tissue is associated with a higher risk of cardio-metabolic disease in adulthood. Thus, precise measurements of abdominal adipose tissue in children may enable early prevention of disease.Objective and hypotheses: To validate measurements of abdominal adipose tissue by anthropome...

hrp0082fc11.2 | Pituitary | ESPE2014

Novel SOX2 Mutation: Identification of New Molecular Mechanisms of SOX2 Action and Interactions

Alatzoglou Kyriaki S. , Andoniadou Cynthia L. , Kelberman Daniel , Kim Hyoong-Goo , Botse-Baidoo Edward , Pedersen-White Jennifer , Layman Lawrence , Martinez-Barbera Juan Pedro , Dattani Mehul T.

Background: SOX2 is an early developmental transcription factor implicated in pituitary development; heterozygous SOX2 mutations have been reported in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. SOX2 physically interacts with β-catenin, a member of the Wnt-signalling pathway, via its carboxyl-terminus and it represses in vitroβ-catenin mediated activation.<p class="abstex...

hrp0095p1-273 | Fat, Metabolism and Obesity | ESPE2022

An adult-based genetic risk score for hepatic fat associates with liver and lipid traits in Danish children

Huang Yun , E. Stinson Sara , Bæk Juel Helene , A.V. Lund Morten , Aas Holm Louise , E. Fonvig Cilius , Grarup Niels , Pedersen Oluf , Christiansen Michael , Krag Aleksander , Stender Stefan , Holm Jens-Christian , Hansen Torben

Background and Aim: Several genetic variants associating with hepatic fat content in adults have been identified in genome-wide association studies. Their effects in children remain unclear. This study aimed to test the effect of genetic variants known to associate with hepatic fat in adults, individually and combined as a genetic risk score (GRS), on cardiometabolic traits, and to investigate the predictive ability of the GRS for hepatic steatosis in children...

hrp0095s10.2 | Microbiome and Metabolic Disorders | ESPE2022

Type 1 Diabetes and The Microbiome

Knip Mikael

The conspicuous increase in the incidence of type 1 diabetes (T1D) in the Western world after World War II cannot be explained solely by genetic factors but suggests that this rise must be due to crucial interactions between predisposing genes and environmental changes. Three parallel phenomena in early childhood – the dynamic development of the immune system, the maturation of the gut microbiome and the appearance of the first T1D-associated autoantibodies – imply...

hrp0086s2.3 | Genetics and epigenetics of thyroid dysgenesis | ESPE2016

New Insights in Thyroid Development

Nilsson Mikael

The mammalian thyroid gland stands out in comparison to other organs as it develops from no less than three independent anlagen that originate in anterior endoderm. The median or central anlage present in the pharyngeal floor gives rise to the thyroid bud or diverticulum that provides progenitors to the thyroxin-producing follicular cells. Bilaterally, the ultimobranchial bodies bud off from the inferior-most pharyngeal pouch. Until recently those structures were considered me...

hrp0092fc14.2 | GH and IGF2 | ESPE2019

Pubertal Onset in 1572 Girls with Short, Normal and Tall Stature: Associations to Height, Serum IGF-I and PAPP-A2 Genotypes

Upners Emmie N , Busch Alexander S. , Almstrup Kristian , Petersen Jørgen Holm , Main Katharina , Jensen Rikke Beck , Juul Anders

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

hrp0089p3-p172 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Forty patients with persistent, non-focal congenital hyperinsulinism: Urgent need for new treatment modalities

Rasmussen Amalie Greve , Melikian Maria , Globa Evgenia , Detlefsen Sonke , Rasmussen Lars , Petersen Henrik , Brusgaard Klaus , Rasmussen Annett Helleskov , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a focal, diffuse, or atypical histological form and a high risk of cerebral injury due to severe hypoglycemia.Methods: We retrospectively evaluated the treatment and outcome of a cohort of patients with non-focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark from January 2000 to May 2017. Data were extracted from hospital files.<p class=...

hrp0086p1-p347 | Gonads &amp; DSD P1 | ESPE2016

The International AGD Consortium: A Multi-center Study of 3939 Infants and Children with Anogenital Distance Measurements

Lindhardt Johansen Marie , Thankamony Ajay , Acerini Carlo , Kold Jensen Tina , Main Katharina M. , Holm Petersen Jorgen , Swan Shanna , Juul Anders

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...

hrp0082p2-d2-471 | Growth (1) | ESPE2014

When and Why Should We Investigate the SRCAP Gene in Cases of Short Stature?

Lucas Luiza Silveira , Boycott Kym M , Nikkel Sarah M , Lucas Elizabeth Lemos Silveira

Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named Floating–Harbor syndrome (FHS). The clinical diagnosis of FHS is characterized by a triad of short stature with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with prominent nose and deep-set eyes.Objective: To investigate the presence of SRC...