hrp0097p1-374 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Metabolic health status and cortisol metabolism of adolescents with gender incongruence / gender dysphoria during process of diagnosis

Gawlik Aneta , Antosz Aleksandra , Chmiel-Aleksandrowicz Iga , Januszek-Trzciąkowska Aleksandra , Karbowska Dorota , Gawlik Jakub , Nowak Zuzanna , Jakubowski Tomasz

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth, and can lead to significant distress and gender dysphoria (GD). In various studies it has been associated with a predisposition to developing pathological eating behaviours, which in turn negatively influence the individual’s metabolic health. In our study we examine selected markers of metabolic condition and assess sur...

hrp0095p1-406 | Adrenals and HPA Axis | ESPE2022

Salt-wasting in newborns due to adrenal dysfunctions other than 21 OH Congenital adrenal hyperplasia (CAH) : a single center experience

Baronio Federico , Ferrari Vittorio , Maltoni Giulio , Alqaisi Randa , Cassio Alessandra

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

hrp0092p3-5 | Adrenals and HPA Axis | ESPE2019

Can Early Prenatal Prednisone Treatment Reduce Virilization of CAH Female Newborn?

Sauna Alessandra , Timpanaro Tiziana , Panebianco Valeria , Caruso-Nicoletti Manuela

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

hrp0086p1-p472 | Fat Metabolism and Obesity P1 | ESPE2016

Risk factors for Atherosclerosis after Anticancer Treatment in Childhood: The Assessment of Lipid Parameters and Indicators of Susceptibility to Atherosclerosis in a Group of Pediatric Patients after Anticancer Treatment

Połubok Joanna , Jasielska Olimpia , Gonera Aleksandra , Kozicka Marta , Sęga-Pondel Dorota , Kazanowska Bernarda , Barg Barg

Introduction: Lipid disorders are a common complication of anticancer therapy. These disorders may be included in both the metabolic syndrome or also may be associated with increased risk of cardiovascular disease. The aim of our study is to evaluate lipid profile in children after anticancer treatment.Materials and methods: Study group consisted of 44 patients (aged 3.25–16 years) with solid tumors, at least one year after cessation of anticancer t...

hrp0095fc4.6 | Fat, Metabolism and Obesity | ESPE2022

Influence of growth hormone status and glucose metabolism on hs-Troponin T and NT-proBNP levels in a cohort of healthy children (The LIFE child study)

Kiess Alexandra , Kiess Wieland , Vogel Mandy

Background and Objectives: N-terminal-pro hormone Brain Natriuretic Peptide (NT-proBNP) and hs-Troponin T (hs-TnT) are commonly used cardiac biomarkers despite lacking a deeper understanding about influencing parameters especially in the healthy pediatric population. We previously found associations between NT-proBNP and hs-TnT and a child´s age, sex, pubertal status, Body Mass Index (BMI) and serum lipid levels. Subsequently, we explored associations wi...

hrp0094p2-247 | Growth hormone and IGFs | ESPE2021

A girl with concurrent congenital adrenal hyperplasia, isolated growth hormone deficiency type II (IGHD II) and a new mutation in the GH 1 gene – an extremely unusual case

Genthner N , Blum W , Kamrath C , Wudy SA ,

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

hrp0089fc1.6 | Adrenals & HPA Axis | ESPE2018

A Novel Stem Cell Model for the Triple A Syndrome

Da Costa Alexandra Rodrigues , Qarin Shamma , Bradshaw Teisha Y. , Watson David , Prasad Rathi , Barnes Michael R. , Metherell Louise A. , Chapple J. Paul , Skarnes William C. , Storr Helen L.

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

hrp0082p2-d1-264 | Adrenals & HP Axis | ESPE2014

LC–MSMS Profiling of Plasma Steroids in Different Types of Congenital Adrenal Hyperplasia

Kulle Alexandra E. , Reinehr Thomas , Akkurt Halit Ilker , Commentz Christian , Heger Sabine , Simic-Schleicher Gunter , Welzel Maik , Hornig Nadine C. , Holterhus Paul-Martin

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...

hrp0086p1-p902 | Thyroid P1 | ESPE2016

Identification of Zinc Transporter ZnT8 in Thyroid Tissues from Children and Adolescents with Thyroid Nodular Hyperplasia

Bossowski Artur , Niklinska Wieslawa , Gasowska Marta , Goralczyk Aleksandra , Polnik Dariusz , Reszec Joanna

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It has been demonstrated that the ZnT family plays an important role in the synthesis and secretion of different hormones. Furthermore, ZnT8Ab (zinc transporter-8 autoantibodies) together with GADAb (glutamic acid decarboxylase antibodies), IAA (insulin autoantibodies) and IA-2Ab (islet antigen-2 antibodies) are markers of auto...

hrp0086p1-p905 | Thyroid P1 | ESPE2016

Association of CTLA4, PADI4 and FTO Polymorphisms with Autoimmune Thyroid Diseases in Male Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: The etiology of Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) is multifactorial and involves genetic and environmental factors. Family and population studies confirmed the strong genetic influence and inheritability in the development of AITD. Possible sex-related differences in overexpression of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, peptidyl arginine deiminase 4(PADI4) gene, the fat mass...