hrp0092rfc11.3 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Polycystic Ovarian Syndrome in Adolescents: Utilising Discovery Proteomics and the Search for to Identify Novel Non-Invasive Biomarkers

Gunn Harriet , Forysth Vhari , Hällqvist Jenny , Viner Russell , Mills Kevin , Steinbeck Katharine

Background: Polycystic ovarian syndrome (PCOS) is common, affecting up to one-fifth of females. PCOS is associated with significant comorbidity including metabolic dysfunction, pro-inflammation and mood disorders. Despite this, it is poorly understood, and diagnosis and management remain challenging in adolescents. Proteomics enables the better understanding of disease mechanisms and facilitates the identification of novel biomarkers.<st...

hrp0089p1-p244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Polycystic Ovarian Syndrome in Adolescents: Characterising the Clinical Phenotype and the Role of Precision Medicine

Gunn Harriet , Agarwalla Vathsala , Skinner Rachel , Milne Bronwyn , Mills Kevin , Steinbeck Katharine

Background: Polycystic ovarian syndrome (PCOS) is the most common hormone disorder in adolescent and young adult females, affecting 4–20% of the population. PCOS is associated with metabolic dysfunction, pro-inflammatory processes and mood disorders. Despite this, it is poorly understood in younger adolescents, and diagnosis and management remain challenging.Objectives: To better understand the clinical phenotype of PCOS in adolescents. Subsequently...

hrp0089p2-p303 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Foot Length Growth is a Novel Marker of Early Puberty

Balzer Ben , Lun Cheng Hoi , Garden Frances , Luscombe Georgina , Paxton Karen , Hawke Catherine , Handelsman David , Steinbeck Katharine

Introduction: Pubertal growth is hormone dependent. The anthropometric (height, weight) and sexual (Tanner stage (TS)) changes are accompanied by growth in foot length. However, the relationship between changes in foot length and other anthropometry remains unclear. Our aim was to determine how changes in foot length relate to growth parameters (height and weight), self-rated TS and serum sex steroids.Methods: We used data from the Adolescent Rural Cohor...

hrp0095p2-207 | Multisystem Endocrine Disorders | ESPE2022

Bisphenol A (BPA): A Hidden Enemy

Grau Gema , Andrade Fernando , Vela Amaya , López Oceja Raquel , Rica Itxaso

Introduction: Endocrino disruptors (EDs) are substances that interfere with hormonal function. The long list of EDs includes multiple natural compounds and numerous synthetic chemicals such as bisphenol A (BPA). BPA is present in plastics used in common products (Packaging, bottles, toys, digital media, etc). Several studies have shown its ability to alter the regulation of developmentally relevant genes, inhibit the synthesis of sex hormones and induce the pr...

hrp0092p1-377 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

International Consensus: Ovarian Tissue Cryopreservation in Young Turner Syndrome Patients. Outcomes of an Ethical Delphi Study Including 55 Experts from 16 Different Countries.

Schleedoorn Myra , Mulder Bjarne , Braat Didi , Beerendonk Catharina , Peek Ron , Nelen Willianne , van Leeuwen Evert , van der Velden Janielle , Fleischer Kathrin

Summary Answer: The majority of the expert panel states that ovarian tissue cryopreservation (OTC)should be offered to young females with Turner syndrome (TS)Background: OTC is a valid option to preserve the fertility of young females at risk of iatrogenic premature ovarian insufficiency (POI). Offering OTC to females with a genetic cause of POI seems a logical next step. One of the most common genetic disorders related ...

hrp0094p2-186 | Fat, metabolism and obesity | ESPE2021

Diagnostic accuracy of Tri-Ponderal mass index (kg/m3) for identifying glucose intolerance in obese children and adolescents.

Arciniegas Larry , Mogas Eduard , Tomasini Rosangela , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

hrp0089rfc8.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Male Fertility Genes Located in Y-Chromosomal Regions Display Differential mRNA Profiles in Response to GnRH Treatment of Cryptorchidism-Dependent Infertility

Hadziselimovic Faruk , Gegenschatz-Schmid Katharina , Verkauskas Gilvidas , Stadler Michael

Background: Undescended testes in patients with defective mini-puberty contain germ cells that fail to differentiate normally into Ad spermatogonia and ultimately leads to infertility. Six months treatment with the gonadotropin-releasing hormone GnRH increases luteinizing hormone and testosterone secretion and rescues fertility in the majority of pathological cryptorchid testes. Several Y chromosomal genes in the male-specific Y region (MSY) are essential for spermatogenesis, ...

hrp0089p2-p076 | Diabetes &amp; Insulin P2 | ESPE2018

Novel Gata6-Mutation in a Boy with Neonatal Diabetes and Diaphragmatic Hernia

Gaisl Odile Christin , Konrad Daniel , Steindl Katharina , Lang-Muritano Mariarosaria

Background: Onset of diabetes in the neonatal period with additional malformations e.g. congenital heart defects should always be suspicious for an underlying genetic disorder. For example, GATA6-mutations were identified in children with congenital heart defects and neonatal diabetes. The latter may be due to pancreas agenesis. Herein we present a novel GATA6-mutation in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early onset scol...

hrp0094p1-82 | Pituitary A | ESPE2021

Cardiac remodeling in patients with childhood-onset craniopharyngioma – Results of HIT-Endo and KRANIOPHARYNGEOM 2000/2007

Sowithayasakul Panjarat , Buschmann Leona Katharin , Boekhoff Svenja , Muller Hermann L. ,

Background: Hypothalamic obesity caused by childhood–onset craniopharyngioma results in long–term cardiovascular morbidity. Knowledge about clinical markers and risk factors for cardiovascular morbidity is scarce.Patients and Methods: A cross–sectional study on transthoracic echocardiographic parameters was performed to determine the associations with clinical and anthropometric parameters in 36 craniopharyngioma patients....

hrp0089rfc4.4 | GH &amp; IGFs | ESPE2018

A Longitudinal Study on miRNAs Circulating Levels in a Cohort of SGA and AGA Subjects, Evaluated During Childhood and Young Adulthood

Inzaghi Elena , Kistner Anna , Deodati Annalisa , Germani Daniela , Legnevall Lena , Vanpee Mireille , Berinder Katarina , Cianfarani Stefano

Background: Low birth weight is associated with increased cardio-metabolic diseases in adulthood. Specific circulating miRNA seem to be predictive of cardio-metabolic risk.Objective: Our aim was to investigate the circulating levels of mir-122, mir-16, mir-126, and mir-486 in a cohort of SGA and AGA subjects, evaluated longitudinally in childhood and early adulthood.Method: Anthropometric and biochemical-metabolic evaluations were ...