hrp0084p3-820 | Endocrine Oncology | ESPE2015

AIP Polymorphism in Familiar Isolated Pituitary Adenomas: Case Report

Viale Maria Lorena , Hernandez Claudia L , Rampi Maria Gabriela , Serra Maria Pia , Figueroa Veronica , Day Patricia Fainstein , Brunetto Oscar H

Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.Objective and hypotheses: Evaluate the presence of AIP gene m...

hrp0094p1-110 | Adrenal B | ESPE2021

Current Management Of Acute Adrenal Insufficiency Related Adverse Events In Children- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , Krone Nils P. , Grinten eHedi L. Claahsen-van der , Ahmed S. Faisal ,

Background: >There is a wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Three groups of ...

hrp0094p1-179 | Growth Hormone and IGFs B | ESPE2021

Novel dominant negative GH receptor variants provide important insights into GH receptor physiology

Andrews Afiya , Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Williams Jack , Metherell Louise A , McCormick Peter J , Storr Helen L ,

Background: Growth hormone insensitivity (GHI) encompasses normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is an emerging entity which is poorly characterised, and, in many subjects, the underlying cause is unclear. Heterozygous dominant negative (DN) variants located in the intracellular/transmembrane domain of the GH receptor (GHR) cause a ‘non-classical’ GHI phenotype.<p class="abst...

hrp0095p1-454 | Diabetes and Insulin | ESPE2022

Clinical and genetic evaluation of patients with maturity onset diabetes of the young (MODY) : Single center experience

Hande Turan , Bayramoglu Elvan , Gunes Kaya Didem , tarcin Gürkan , Bingöl Aydın Dilek , Ercan Oya , Evliyaoglu Olcay

Purpose: MODY is a monogenic diabetes with autosomal dominant inheritance that usually occurs in adolescence or young adulthood. It constitutes 1% of diabetes cases in childhood. The diagnosis of MODY is very difficult due to genetic heterogeneity, rarity, and clinical overlap with other diabetes types. In recent years, the diagnosis of MODY has become easier with genetic developments. On the other hand, misinterpretation of results can cause confusion. In thi...

hrp0095p2-208 | Multisystem Endocrine Disorders | ESPE2022

Precocious puberty before and after the COVID-19 pandemic

Gök Ebru , Sarıkaya Emre , Kara Leyla , Berber Uğur , Gül Şiraz Ülkü , Hatipoğlu Nihal

Introduction: A novel coronavirus defined as coronavirus disease 2019 (COVID-19) was first detected in China at the end of 2019 and spread rapidly all over the world. As the covid 19 pandemic has led to changes in life all over the world, the prognosis of diseases have also been affected. This study presents how early puberty has been affected during the pandemic period.Method: A total of 210 subjects; 113 individuals (9...

hrp0095p1-113 | Growth and Syndromes | ESPE2022

Development and testing of a novel ‘GrowthMonitor’ Smartphone App for growth monitoring and the detection of growth disorders

Thaventhiran Thilipan , Orr Joanna , K. Morris Joan , Harding Vincent , Hsu Ann , Dunkel Leo , Chapple Paul , L. Storr Helen

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at h...

hrp0095p1-332 | Growth and Syndromes | ESPE2022

Growth Hormone Therapy Experience in a Patient with Hypotonia Cystinuria Syndrome

Sarıkaya Emre , Berber Uğur , Gök Ebru , Kara Leyla , Gül Şiraz Ülkü , Hatipoğlu Nihal

Background: Hypotonia-Cystinuria Syndrome (HCS) is a rare autosomal recessive disease characterized by generalized hypotonia, nephrolithiasis, short stature, minor facial dysmorphism, hyperphagia, and rapid weight gain in late childhood. Microdeletion can be detected in part of the SLC3A1 and PREPL genes in these cases. Growth hormone deficiency is rarely seen in these patients and adequate growth can be achieved with growth hormone therapy.<p class="abste...

hrp0095p1-457 | Diabetes and Insulin | ESPE2022

Rabson Mendenhall Syndrome: A Rare Insulin Resistance Syndrome

Bingöl Aydın Dilek , Tin Oğuzhan , Bayramoğlu Elvan , Turan Hande , Evliyaoğlu Olcay , Ercan Oya

Introduction: Rabson-Mendenhall Syndrome (RMS) is an autosomal recessive, extremely rare, serious insulin resistance syndrome that occurs as a result of mutation in the insulin receptor (INSR) gene. Pathogenic variants in the INSR gene cause a broad spectrum of inherited insulin resistance syndromes. Here, a male case who presented with the complaint of diffuse acanthosis nigricans and was diagnosed with RMS is shared. Case Repor...

hrp0094p2-92 | Bone, growth plate and mineral metabolism | ESPE2021

Pseudohypoparathyroidism with hypokalemia and hypomagnesemia: association or separate entity?

Amin Arliena , Cheng Hooi Peng , Hua Hong Janet Yeow , Selveindran Nalini M , Lyn Wong Jeanne Sze ,

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogenous disorders characterized by end organ resistance to parathyroid hormone (PTH) action. In 1942, Fuller Albright first described the phenotype of Albright Hereditary Osteodystrophy (AHO) associated with end organ hormone resistance (brachydactyly, rounded face, short stature, central obesity, subcutaneous ossifications, and variable degrees of mental retardation). Recently EuroPHP network pro...

hrp0094p1-120 | Fat, Metabolism and Obesity B | ESPE2021

Monogenic obesity in children: focusing on SH2B1 deletion

Giannopoulou Eleni Z , Zorn Stefanie , Schirmer Melanie , Herrmann Gloria , Heger Sabine , Reinehr Thomas , Denzer Christian , Rabenstein Hannah , Schnurbein Julia von , Wabitsch Martin ,

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...