hrp0089rfc9.2 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Novel Variant in GNRHR Gene Regulatory Region in a Pedigree with Maternally Inherited Precocious Puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: Gonadotropin-releasing hormone (GNRH) and its receptor (GNRHR) are central regulators of puberty. Loss-of-function mutations of the GNRH-GNRHR signaling pathway are associated with congenital hypogonadotropic hypogonadism, but no mutations were reported so far in patients with central precocious puberty (CPP). Animal data demonstrate the importance of microRNAs in pubertal timing regulation. Among others, miR200b regulates Gnrh1 gene expression in GnRH neu...

hrp0086p1-p9 | Adrenal P1 | ESPE2016

Long-term Anthropometric Outcome of Girls with Non-classical Congenital Adrenal Hyperplasia Diagnosed in Childhood

Bello Rachel , Lebenthal Yael , Salitin Shlomit , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.Objective: To investigate long-term effects of NCCAH on height and weight.Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at d...

hrp0084p1-44 | Diabetes | ESPE2015

Is Metabolic Control Affected by Military Service in Young Adults with Type 1 Diabetes?

Brener Avivit , Mel Eran , Shalitin Shlomit , Lazar Liora , de Vries Liat , Tenebaum Ariel , Oron Tal , Philip Moshe , Lebenthal Yael

Background: Young adults with type 1 diabetes (T1D) are exempt from conscript military service due to risk of severe hypoglycaemia and metabolic compromise. Nevertheless, there are patients who volunteer to military service.Aims and objectives: To evaluate the effect of military service on metabolic control and incidence of acute diabetes complications.Methods: Study design: retrospective, comparative analysis. Data of 145 T1D pati...

hrp0092p1-109 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A NCOA5 Gene Variant in A Pedigree With Maternally Inherited Precocious Puberty

Stefanija Magdalena Avbelj , Kovac Jernej , Gat-Yablonski Galia , Bratina Nataša , Omladič Jasna Šuput , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: The major genetic causes of CPP are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Exceedingly rare patients with CPP carry variants in kisspeptin system. The CPP genes are also associated with the age at menarche in the population as demonstrated by genome-wide association studies (GWAS). Nuclear Receptor Coactivator 5 (NCOA5) is a coregulator for the alpha and beta estrogen receptors a...

hrp0086p2-p704 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Autoimmune Diseases and Metabolic Outcome in Turner Syndrome – Comparison between 45,X0 and other X Chromosome Abnormalities

Lebenthal Yael , Sofrin-Drucker Efrat , Yackobovitch-Gavan Michal , Nagelberg Nessia , de Vries Liat , Shalitin Shlomit , Tenenbaum Ariel , Phillip Moshe , Lazar Liora

Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.Metho...

hrp0094p2-386 | Pituitary, neuroendocrinology and puberty | ESPE2021

Blood Pressure in Girls with Central Precocious Puberty and GnRH Analog Therapy

Fisch Shvalb Naama , Harani Hadas Alfandary , Davidovits Miriam , Shvalb Nir , Demol Eliaz Sharon , Yackobovitch Gavan Michal , Phillip Moshe , de Vries Liat ,

Objectives: Several case reports describe hypertension (HTN) in children treated with GnRH analogs for central precocious puberty (CPP). However, relevant data on blood pressure (BP) under GnRH analog treatment are scarce. We evaluated BP among girls with idiopathic CPP and early puberty (EP) before, during and after GnRH analog therapy, and examined associations of BP with clinical parameters.Design: A retrospective longitudinal cohort ...

hrp0092t17 | Top 20 Poster | ESPE2019

Factors Associated with Dyslipidemia in Patients with Type 1 Diabetes: A Single-Center Experience

Volsky Sari Krepel , Shalitin Shlomit , Yackobovitch-Gavan Michal , Lazar Liora , Bello Rachel , Oron Tal , Tenenbaum Ariel , de Vries Liat , Phillip Moshe , Lebenthal Yael

Background: Type 1 diabetes (T1D) contributes to altered lipid profiles and increased cardiovascular disease (CVD) risk. Youth with T1D may have subclinical CVD within the first decade of diagnosis.Objective: To assess risk factors associated with dyslipidemia in young subjects with T1D.Study Design and Methods: A longitudinal and cross-sectional retrospective cohort study was cond...

hrp0092p1-157 | Adrenals and HPA Axis (1) | ESPE2019

Influence of Salt Supplementation on Drug Therapy in Children with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency Aged 0-3 Years: Update on a Retrospective Multicentre Analysis Using the I-CAH Registry

Neumann Uta , van der Linde Annelieke , Krone Ruth , Guven Ayla , Güran Tülay , Elsedfy Heba , Darendeliler Feyza , Bachega Tania , Balsamo Antonio , Hannema Sabine , Birkebaek Niels , Vieites Ana , Acerini Carlo , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Costa Eduardo , Atapattu Navoda , de Vries Liat , Filho Guilherme , Korbonits Marta , Mohnike Klaus , Bryce Jillian , Ahmed Faisal , Voet Bernard , Blankenstein Oliver , van der Grinten Hedi Claahsen

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

hrp0089p2-p309 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

MKRN3 Gene Mutations in a Cohort of Patients with Central Precocious Puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Jančevska Aleksandra , Zdravković Vera , Jesić Maja , Vuković Rade , Stanković Sandra , Todorović Sladana , Hovnik Tinka , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...

hrp0094yi1.1 | Young Investigators | ESPE2021

Identification of novel genetic causes of familial central precocious puberty

Avbelj Stefanija Magdalena , Kovač Jernej , Gat-Yablonski Galia , Novak Eva , Hovnik Tinka , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Vuković Rade , Todorović Slađana , Jančevska Aleksandra , Zdravković Vera , Jesič Maja , Stanković Sandra , Phillip Moshe , Battelino Tadej , de Vries Liat

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...