hrp0095p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Predictors of surgical outcomes in boys with hypospadias

Scougall Kathryn , Bryce Jillian , Baronio Federico , L Boal Rachel , Castera Roberto , Castro Sebastián , Cheetham Tim , Correa Costa Eduardo , Darendeliler Feyza , Davies Justin , Dirlewanger Mirjam , Gazdagh Gabriella , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Herrmann Gloria , Holterhus Paul-Martin , Karagözlü Akgül Ahsen , Markosyan Renata , Nordenstrom Anna , McElreavey Kenneth , Lopes Miranda Marcio , Poyrazoglu Sukran , Russo Gianni , Schwitzgebel Valerie , Steigert Michael , Faisal Ahmed S. , K Lucas-Herald Angela

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

hrp0092rfc10.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Contemporary Surgical Approach in CAH 46XX – Results from the I-DSD/I-CAH Registries

Hebenstreit Doris , Ahmed Faisal , contributing centres within the I-DSD registry and I-CAH registry on behalf of the , Springer Alexander , Krall Christoph , Krone Nils , Birkebaek Niels , Milenkovic Tatjana , Koehler Birgit , Flueck Christa , Krone Ruth , Balsamo Antonio , Rey Rodolfo , Acerini Carlo , Guven Alya , Guran Tulay , Darendeliler Feyza , Alvi Sabah , Korbonits Marta , Bonfig Walter , Correa Costa Eduardo , Ross Richard , Iotova Violeta , Konrad Daniel , Bryce Jillian , van der Grinten Hedi Claahsen , de Vries Liat

Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...

hrp0094fc1.2 | Adrenal | ESPE2021

Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia – longitudinal analysis of real world data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , van den Akker Erica LT , Aparecida Sartori Tania , Bachega Sanchez , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guvan Ayla , Hannema Sabine , Iotova Violeta , van der Kamp Hetty J , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Anna , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

hrp0094p1-6 | Adrenal A | ESPE2021

International practice of therapy monitoring in congenital adrenal hyperplasia – Real World data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , Akker Erica van den , Bachega Tania Aparecida Sartori Sanchez , Baronio Federico , Birkebaek Niels Holtum , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guven Ayla , Hannema Sabine , Iotova Violeta , Kamp Hetty J van der , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Ana , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

hrp0095p2-140 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

POU1F1 gene mutation as a cause of central hypothyroidism and growth hormone deficiency: a case report

Sawicka Beata , Borysewicz-Sańczyk Hanna , Sztatyłowicz Aleksandra , Michalak Justyna , Stożek Karolina , Bossowski Artur

Background: Thyroid hormones are necessary for normal child development. Hypothyroidism, associated with insufficient amounts of free triiodothyronine and thyroxine, may not only cause poor growth rate, but also results in impaired central nervous system development. In Poland, newborn screening for congenital primary hypothyroidism, the incidence of which is reported to be 1:2500- 1:4000 births, has been performed for many years. Secondary hypothyroidism, cau...

hrp0095p2-150 | GH and IGFs | ESPE2022

Alterations in stem cell populations during rIgF-1 (Increlex) therapy in patients with SPIGF1D

Bossowski Artur , Grubczak Kamil , Stożek Karolina , Starosz Aleksandra , Bossowski Filip , Moniuszko Marcin

Pathway involving insulin-like growth factor 1 (IGF-1) plays significant role in growth and development. Crucial role of IGF-1 was discovered inter alia through studies involving deficient patients with short stature, including SPIGFD individuals. Noteworthy, despite disturbances in proper growth, elevated values for selected stem cell populations were found in IGF-1 deficient patients. Therefore, here we focused on investigating role of these cells - very small embryonic-like...

hrp0095p2-279 | Thyroid | ESPE2022

Evaluating the role of circulating dendritic cells in methimazole-treated pediatric Graves’ disease patients

Bossowski Artur , Grubczak Kamil , Starosz Aleksandra , Stozek Karolina , Bossowski Filip , Moniuszko Marcin

Graves’ disease (GD) is hyperthyroidism associated with organ-specific autoimmune inflammation. GD occurs more frequently in adults than in children, however, pediatric patients are a therapeutic challenge due to cycles of remissions and relapses requiring constant monitoring at every stage of treatment administered. Dendritic cells (DCs) are considered a link between innate and adaptive immunity. DCs as antigen-presenting cells (APCs) are involved in antigen presentatio...

hrp0095p2-281 | Thyroid | ESPE2022

Effects of therapy on Th1, Th17, Th22 and Bregs in pediatric patients with Graves' disease

Stożek Karolina , Grubczak Kamil , Starosz Aleksandra , Bossowski Filip , Moniuszko Marcin , Bossowski Artur

Introduction: The precise pathogenesis of Graves’ disease (GD) still remains unclear, especially in the field of immunological aspects. Thyroid infiltration by reactive T and B lymphocytes plays a crucial role in the course of autoimmune thyroid diseases (ATD). Previous pattern of inflammation process was characterized by the presence of two antagonistic groups of T effector or also called- helper cells: Th1 and Th2. Recently, more attention is paid to T...

hrp0092fc5.2 | Thyroid | ESPE2019

Lower Proportion of CD19+IL-10+ and CD19+CD24hiCD27+ IL-10+, but not CD1d+CD5+CD19+CD24+CD27+ IL-10+ B Cells in Children with Autoimmune Thyroid Diseases

Stozek Karolina , Grubczak Kamil , Marolda Viviana , Eljaszewicz Andrzej , Moniuszko Marcin , Bossowski Artur

Introduction: Hashimoto's thyroiditis (HT) and Graves' disease (GD) become increasingly common in children's population. Pathogenesis of autoimmune thyroid diseases (AITD) bases on coexistence of genetic predisposition and environmental triggers which finally drive to breakdown of immune tolerance. Many mechanisms in human body moderate process of inflammation. While some of them answer for up-regulation, some agents like B regulatory lymphocytes (...

hrp0086p2-p54 | Adrenal P2 | ESPE2016

Hyperandrogenism in a 12-year Old Girl with a Congenital Porto-Systemic Shunt and Congenital Hepatic Fibrosis

Danko Mikolaj , Kot Karolina , Szalecki Mieczysław , Moszczynska Elzbieta , Malinowska Anna

Background: Hyperandrogenism in children is associated with excessive adrenal or gonadal androgens secretion. The most common causes of androgens hypersecretion are PCOS, adrenal tumors, Cushing’s syndrome, CAH, and gonadal virilizing tumors. Within the last 15 years single case-reports of hyperandrogenism in female patients with congenital porto-systemic shunts were described in literature. The mechanism of such coincidence is unknown but the role of hyperinsulinism, imp...