hrp0092fc1.5 | Diabetes and Insulin Session 1 | ESPE2019

FADES: A Birth Cohort to Understand the Mechanisms Underlying Accelerated Onset of Autoimmunity in Children with Down's Syndrome

Williams Georgina , Mortimer Georgina L. , Leary Sam D. , Williams Alistair J.K. , Gillespie Kathleen M. , Hamilton - Shield Julian P.

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

hrp0094p1-50 | Sex Endocrinology and Gonads A | ESPE2021

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

McGlacken-Byrne Sinead M , Torres Ignacio Del Valle , Stabej Polona Le Quesne , Belutti Laura , Ocaka Louise , Ishida Miho , Suntharalingham Jenifer P , Genomics UCL , Discovery GOSgene , Resource Human Developmental Biology , Dattani Mehul T , Kelberman Dan , Lagos Carlos F , Livera Gabriel , Conway Gerard S , Achermann John C ,

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

hrp0094p2-442 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia

Vlachopapadopoulou Elpis-Athina , Fotiadou Anatoli , Picard Jean-Yves , Achilleos Orthodoxos , Lamprinou Zoe , Tzortzopoulou Adelais , Passalidis Alexandros , Michalacos Stephanos

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

hrp0084p3-938 | GH &amp; IGF | ESPE2015

An Open-Label Phase 2 Dose-Finding Study Comparing Three Different Doses of Weekly TV-1106 and Daily Recombinant Human GH (Genotropin®) in Treatment-Naive, Pre-Pubertal, GH-Deficient Children

Rosenfeld Ron G , Wit Jan M , Malievsky Oleg , Bolshova Elena , Brown Kurt , Sakov Anat , Anscheutz Gaya , Bassan Merav , Butler Kathleen

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...

hrp0094p1-119 | Fat, Metabolism and Obesity B | ESPE2021

Diagnostic precision of the Tri-Ponderal Mass Index (kg/m3) to identify the metabolic risk phenotype in obese children and adolescents.

Arciniegas Larry , Tomasini Rosangela , Vega Elizabeth , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

hrp0094p1-45 | Sex Endocrinology and Gonads A | ESPE2021

Bilateral testicular regression: genetic etiology and outcome in a large Belgian series

Tack Lloyd , Brachet Cecile , Heinrichs Claudine , Boros Emese , De Waele Kathleen , Straaten Saskia vander , Aken Sara Van , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , De Baere Elfride , Verdin Hannah , Cools Martine ,

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...

hrp0086fc2.2 | Bone &amp; Mineral Metabolism | ESPE2016

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Bordogna Paola , Elli Francesca M , Freson Kathleen , Garin Intza , Grybek Virginie , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , de Sanctis Luisa , Silve Caroline , Turan Serap , Usardi Alessia , Saraff Vrinda , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...

hrp0092p1-171 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Evaluation of Bone Health in Adolescents and Young Adults After Allogeneic Human Stem Cell Transplantation in Childhood: A Single Center Cross-Sectional Study

De Waele Kathleen , Tack Lloyd , Bordon Victoria , Van Lancker Sophie , Dhooge Catharina , Cools Martine

Introduction: Hormonal deficits are well known complications after allogeneic human stem cell transplantation (alloHSCT) in childhood and treated according to existing guidelines. It is assumed that bone mass and strength accrual during puberty is also often impaired, due to toxic therapy and prolonged inactivity, but data on bone geometry and strength are scare in this particular group.Objective/Patients and Methods: Cr...

hrp0084p2-415 | GH &amp; IGF | ESPE2015

The Pharmacokinetics and Pharmacodynamics of TV-1106, a Once Weekly GH Supplement: Results from a Phase 2 Study of TV-1106 in Adults with GH Deficiency

Cohen-Barak Orit , Christiansen Jens Sendahl , Bidlingmaier Martin , Brown Kurt , Sakov Anat , Anscheutz Gaya , Butler Kathleen

Background: TV-1106 (Teva Pharmaceuticals Ltd) is a genetically fused recombinant GH (rhGH) and human serum albumin in development as a once weekly treatment of GH deficiency (GHD) in children and adults. TV-1106 has an extended duration of action compared to daily rhGH treatment, reducing the frequency of injections.Objective and hypotheses: The pharmacokinetics and pharmacodynamics of TV-1106 were evaluated in phase 2 study using non-compartmental anal...

hrp0089rfc11.1 | Bone, Growth Plate &amp; 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...