hrp0082p2-d1-518 | Pituitary | ESPE2014

Goliath, a Variant of DAVID Syndrome?

Hasselmann Caroline , Samuels Mark E , Van Vliet Guy

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

hrp0084p2-448 | Growth | ESPE2015

Determination of the Pathogenicity of SHOX P2 Promoter Variants, Identified in Patients with Léri-Weill Dyschondrosteosis or Idiopathic Short Stature

Belinchon Alberta , Benito-Sanz Sara , Heath Karen E

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...

hrp0084p2-472 | Growth | ESPE2015

Characterisation of Partial SHOX Deletions/Duplications Reveals Intron 3 to be a Hotspot Region

Benito-Sanz Sara , Belinchon Alberta , Heath Karen E

Background: SHOX, located on the pseudoautosomal region 1 (PAR1), encodes a transcriptional factor implicated in human skeletal growth. Alterations in SHOX or its regulatory elements are observed in ~70% of patients with Leri–Weill dyschondrosteosis (LWD), in ~90% with Langer mesomelic dysplasia (LMD) and ~2.5% of patients with idiopathic short stature (ISS). SHOX deletions/duplications are a frequent alteration, with the majority encompassing the entire gene.<p class...

hrp0094p2-234 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Continuous Glucose Monitoring (CGM) Reveals Undertreated Hypoglycemia in Patients with Congenital Hyperinsulinism

Hood Davelyn E. , Roberts Brian K. , Neale Ann , Raskin Julie ,

Introduction: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Despite current treatments, patients/caregivers report continued hypoglycemia according to the HI Global Registry 2020 Annual Report. Published literature characterizing hypoglycemia in CHI patients on standard of care (SOC) therapies is lacking.Objective: To quantify the extent of hypoglycemia in CHI...

hrp0095p1-333 | Multisystem Endocrine Disorders | ESPE2022

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

P. Suntharalingham Jenifer , Ishida Miho , E. Stalman Susanne , Solanky Nita , E. Moore Gudrun , C. Achermann John , Buonocore Federica

Background: Heterozygous de novo variants in SAMD9 cause the complex multisystem growth disorder, MIRAGE syndrome. Core features are myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital/gonadal phenotypes, and enteropathy. However, the range of additional associations is expanding and includes disrupted placental development, poor post-natal growth, and other endocrine features. Milder phenotypes are also described, such ...

hrp0082fc6.3 | Gonads &amp; DSD | ESPE2014

LRH1 Rescues SF1 Deficiency for Steroidogenesis in vitro but Cannot Explain the Broad Phenotype of SF1 Deficiency in men

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Andaluz Pilar , Mullis Primus E , Carrascosa Antonio , Fluck Christa E

Introduction: Steroidogenic factor1 (SF1/NR5A1) regulates adrenal and sex development and function. SF1 mutations manifest with a broad phenotype; generally in 46,XY individuals with disorders of sex development (DSD) and in women with ovarian insufficiency. So far, no genotype–phenotype correlation has been found. We hypothesized that the broad phenotype of SF1 mutations may be due to a second hit in a gene with similar function. Liver receptor homolog-1 (LRH1/<...

hrp0095p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

X-Linked Central Precocious Puberty Associated with MECP2 defects

Canton Ana , Tinano Flavia , Guasti Leonardo , Montenegro Luciana , Ryan Fiona , Shears Deborah , Edna Melo Maria , Gomes Larissa , Piana Mariana , Brauner Raja , Espino Rafael , Escribano-Muñoz Arancha , Paganoni Alyssa , Korbonits Marta , Eduardo Seraphim Carlos , Faria Aline , Costa Silvia , Cristina Krepischi Ana , Jorge Alexander , David Alessia , Argente Jesús , Mendonca Berenice , Brito Vinicius , Howard Sasha , Claudia Latronico Ana

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...

hrp0098fc6.5 | Fat, Metabolism and Obesity 1 | ESPE2024

First cross sectional analysis of the eclip registry

von Schnurbein Julia , Nagel Gabriele , Akinci Baris , Broekma Marjoleine , Csajbok Eva , Rosaria D'Apice Maria , Gambineri Alessandra , Heldt Kathrin , Kleinendorst Lotte , Lattanzi Giovanna , Miehle Konstanze , Prodami Flavia , Santini Ferruccio , Santos Silva Ermelinda , B Savage David , Scherer Thomas , Sbraccia Paolo , Sorkina Ekaterina , Štotl Iztok , Vantyghem Marie-Christine , Vigouroux Corinne , Vorona Elena , Araújo-Vilar David , Wabitsch Martin , Vatier Camille , Ceccarini Giovanni

Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy sub-form, research in this area requires international co-operation. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients affected by lipodystrophy....

hrp0098rfc5.3 | Growth and Syndromes | ESPE2024

Neuroradiological Findings in Noonan Syndrome: a multicentric Italian study

Patti Giuseppa , Gabriella Maiorano Nadia , Piccoli Francesca , Grazia Calevo Maria , Tamburrino Federica , Scarano Emanuela , Schiavarello Concetta , Orlandini Eleonora , Pozzobon Gabriella , Baldoli Cristina , Finamore Martina , Grandone Anna , Aiello Francesca , Cirillo Mario , Corica Domenico , Wasniewska Margherita , Cattoni Alessandro , Remida Paolo , Capalbo Donatella , Tortora Fabio , Azzolini Sara , Mansour Mariam , Felicia Faienza Maria , Palladino Stefano , Napoli Flavia , Angelelli Alessia , Di Iorgi Natascia , Rossi Andrea , Maghnie Mohamad , Severino Mariasavina

Background: Data on the neuroradiological findings in Noonan syndrome (NS) are limited.Study Design and participants: Multicentric retrospective observational study conducted in 9 Italian centers of Pediatric Endocrinology. Population includes 112 patients (62 males, 50 females; 73 PTPN11, 8 KRAS, 8 SOS1, 4 LZTR1, 4 RIT1, 4 SHOC2, 3 BRAF, 2 RAF1, 1 ERF, 1 HRAS, 1 MAP2K1, 1 MEK1, 1 PPP1CB, 1 RASA1) with diagnosis of NS ge...

hrp0089rfc1.1 | Adrenals &amp; HPA Axis | ESPE2018

The Relative Contributions of Genetic and Environmental Factors on Cortisol Metabolism at Pre-, Mid- and Post-Pubertal Ages

van Keulen Britt , Dolan Conor , Andrew Ruth , Walker Brian , Boomsma Dorret , Rotteveel Joost , Finken Martijn

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....