hrp0082p1-d1-136 | Growth | ESPE2014

A Homozygous Point Mutation in the GH1 Promoter (−161T>C) Leads to Reduced GH Expression in Siblings with Isolated GH Deficiency

Madeira Joao , Martin Regina , Montenegro Luciana , Franca Marcela , Costalonga Everlayny , Correa Fernanda , Otto Aline , Arnhold Ivo , Freitas Helayne , Machado Ubiratan , Mendonca Berenice , Jorge Alexander , Carvalho Luciani

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

hrp0084p1-22 | Bone | ESPE2015

Evaluation of Bone Mineral Density and Microarchitectural Parameters by DXA and HR-PQCT in 36 X-linked Hypophosphatemic Rickets Patients from a Single-Centre Study

Neto Guido de Paula Colares , Pereira Rosa Maria Rodrigues , Alvarenga Jackeline Couto , Takayama Liliam , Funari Mariana Ferreira de Assis , Martin Regina Matsunaga

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

hrp0095p1-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Usefulness of Next Generation Sequencing in the Molecular Diagnosis of McCune-Albright Syndrome in Peripheral Blood

Guimarães Faria Aline , Augusto Lima Jorge Alexander , Montenegro Luciana , Pinheiro Machado Canto Ana , Eduardo Seraphim Carlos , Rezende Tinano Flavia , Soares Jallad Raquel , Matsunaga Martin Regina , Candida Villares Fragoso Maria , Christina Souza Pinto Nadja , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...

hrp0089rfc11.1 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement

Mantovani Giovanna , Bastepe Murat , Monk David , de Sanctis Luisa , Thiele Susanne , Usardi Alessia , Ahmed Faisal , Bufo Roberto , Choplin Timothee , DeFillipo Gianpaolo , Devernois Guillemette , Eggermann Thomas , Elli Francesca M , Freson Kathleen , Ramirez Aurora Garcia , Germain-Lee Emily , Groussin Lionel , Hamdy Neveen , Hanna Patrick , Hiort Olaf , Juppner Harald , Kamenicky Peter , Knight Nina , Kottler Marie-Laure , Le Norcy Elvire , Lecumberri Beatriz , Levine Michael A , Makiti Outi , Martin Regina , Martos-Moreno Gabriel Angel , Minagawa Masanori , Muray Philip , Pereda Arrate , Pignolo Roberto , Rejnmark Lars , Rodado Rebecca , Rothenbuhler Anya , Saraff Vrinda , Shoemaker Ashley , Shore Eileen M. , Silve Caroline , Turan Serap , Woods Philip , Zillikens M. Carola , de Nanclares Guiomar Perez , Linglart Agnes

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...