hrp0089rfc1.4 | Adrenals & HPA Axis | ESPE2018

Mass Spectrometry-Based Assessment of Childhood Androgen Excess in 487 Consecutive Patients Over 5 Years

Idkowiak Jan , Elhassan Yasir S , Mannion Pascoe , Smith Karen , Webster Rachel , Saraff Vrinda , Barrett Timothy G , Shaw Nick J , Krone Nils , Dias Renuka P , Kershaw Melanie , Kirk Jeremy , Krone Ruth E , O'Reilly Michael W , Arlt Wiebke

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

hrp0084p1-148 | Miscelleaneous | ESPE2015

The Analysis of Occurrence the Zinc Transporter Antibodies ZnT8 in Children with Graves’ Disease and Hashimoto’s Thyroiditis

Bossowski Artur , Borysewicz-Sanczyk Hanna , Bossowska Anna , Szalecki Mieczyslaw , Kucharska Anna , Pyrzak Beata , Walczak Mieczyslaw , Petriczko Elzbieta , Ziora Katarzyna , Del Pilar Larosa Maria , Chen Shu , Powell Michael , Furmaniak Jadwiga , Smith Bernard Rees

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that the ZnT family plays an important role in the synthesis and secretion of many hormones like insulin. We studied the prevalence of ZnT8 Ab in patients with autoimmune thyroid diseases (AITD).Material and methods: The study was performed in the group consisting of 20 Grav...

hrp0097fc14.3 | Late Breaking | ESPE2023

Deconvolution Analysis: GH secretagogue (LUM-201) enhances growth in individuals with moderate idiopathic Pediatric Growth Hormone Deficiency (iPGHD) by enhancing endogenous GH secretion and increasing IGF-1

Cassorla MD Fernando , Román MD Rossana , Linn Johnson PhD Michael , Avila RN Alejandra , Iñiguez MD German , Baier MD Ingrid , Said RN Daniela , Bruchey PhD Aleksandra , Smith MS Christopher , L. Brinks PhD Erik , C. McKew PhD John , B. Karpf MD David , O. Thorner MD Michael , DSc MBBS

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

hrp0097rfc5.3 | Diabetes and insulin 1 | ESPE2023

3 Screen ICA ELISA–A new tool to identify pre-clinical diabetes in first-degree relatives of patients with type 1 diabetes (pre-d1abetes study)

Bossowski Artur , Noiszewska Klaudyna , Polkowska Agnieszka , Zasim Aneta , Jamiolkowska Milena , Mysliwiec Malgorzata , Szadkowska Agnieszka , Mazur Artur , Jarosz-Chobot Przemyslawa , Szypowska Agnieszka , Chobot Agata , Nazim Joanna , Zubkiewicz Agnieszka , Ben-Skowronek Iwona , Niechcial Elzbieta , Walczak Mieczyslaw , Jozwa Anita , Mincewicz-Wysocka Marta , Robak-Kotna Katarzyna , Chen Shu , Furmaniak Jadwiga , Smith Bernard

Introduction: Overt clinical symptoms of type 1 diabetes (T1D) are often preceded by a pre-clinical stage of varying duration. Diagnosis of the pre-clinical stage is difficult and is based on the presence of specific islet autoantibodies in the subject's blood. Objectives: Apparently healthy first-degree relatives of patients with T1D were tested using the 3 Screen ICAELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarbox...

hrp0092p2-245 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Etiological Structure Disorders of Sex Development 46,XY By One Center

Sannikova Ekate , Samsonova Lubov , Latyshev Oleg , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira , Dondup Olga , Okulov Alexey , Tulpakov Anatoliy

Objective: To study structure disorders of sex development (DSD) 46,XY by one center.Subjects and Methods: It was included 60 patients with diagnosis DSD 46,XY at birth to 18 years. For all patients was conducted structural evaluation of the external (by External Masculinization Score, EMS, 0-12) and internal genitalia (by pelvic ultrasound, n=60, laparoscopy, n=20), hormonal research (testoster...

hrp0092p3-243 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Etiologic Classification of 46, XY Disorders of Sexual Differentiation According to Chicago Consensus: Single Center Results

Güven Ayla

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

hrp0089p1-p011 | Adrenals and HPA Axis P1 | ESPE2018

Characterizing the Steroidome in Ammniotic Fluid of Mid-gestation by LC-MS/MS

Wang Rong , Tiosano Dov , Hartmann Michaela F , Wudy Stefan A

The amniotic fluid (AF) milieu is complex and essential to fetal well-being. Here we present a new LC-MS/MS method for the targeted metabolomics analysis of 20 unconjugated and conjugated steroids in 65 AF samples during mid-gestation. Sample preparation included protein precipitation, centrifugation, solid phase extraction and derivatization. We measured progesterone (Prog), 17α-hydroxyprogesterone (17OHProg), testosterone (T), estrone (E1), estradiol (E2), estriol (E3),...

hrp0086p1-p113 | Bone & Mineral Metabolism P1 | ESPE2016

Extension of The Bone Health Index to Adults, and Reference Curves of Four Indices of Cortical Bone for Healthy Europeans

Martin David , Thodberg Hans Henrik

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...

hrp0082s5.1 | Novel Insights into Hypoadrenalism | ESPE2014

Aetiology of Congenital Hypoadrenalism

Achermann John

Congenital adrenal insufficiency is a potentially life-threatening condition that can present soon after birth in many different ways. The classic presentation is a salt-losing crisis due to mineralocorticoid insufficiency, often between a week and two of life, but babies with predominant glucocorticoid insufficiency can present with other features such as prolonged jaundice, hypoglycaemia and hyperpigmentation. Most children with congenital adrenal insufficiency present to em...

hrp0095p1-241 | Diabetes and Insulin | ESPE2022

3 Screen ICA TM Elisa - A New Tool for Identify Pre-Clinical Diabetes in First-Degree Relatives of Patients with Type 1 Diabetes (Pre-D1Abetes Study)

Noiszewska Klaudyna , Bossowski Artur , Zasim Aneta , Jamiołkowska-Sztabkowska Milena , Polkowska Agnieszka , Mazur Artur , Brzuszek Marta , Fichna Piotr , Niechciał Elżbieta , Szalecki Mieczysław , Wysocka-Mincewicz Marta , Myśliwiec Małgorzata , Żalińska Magdalena , Szmigierko-Kawko Małgorzata , Noczyńska Anna , Zubkiewicz-Kucharska Agnieszka , Chobot Agata , Górska-Flak Karolina , Ochab Agnieszka , Szadkowska Agnieszka , Wyka Krystyna , Pietrzak Iwona , Pilecki Olgierd , Jarosz-Chobot Przemysława , Rusak Ewa , Beń-Skowronek Iwona , Sieniawska Joanna , Szypowska Agnieszka , Nazim Joanna , Walczak Mieczysław , Jóźwa Anita , Marcinkiewicz Katarzyna , Powell Michael , Amoroso Marie , Rees Smith Bernard , Furmaniak Jadwiga

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...