Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep336 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Studying the care and social pathway of young adults with endocrine and metabolic diseases during transition: The ‘Transend’ cohort

Le Roux Enora , Menesguen Florence , Tejedor Isabelle , Halbron Marine , Popelier Marc , Faucher Pauline , Poitou Christine , Polak Michel , Touraine Philippe

Context: The transition period between pediatric and adult medicine is associated with poor patient outcomes and an important number of patients lost to follow up. Intervention exist but the few published randomized trials do not allow to study long-term patient outcomes nor intervention sustainability in time. Objective. Describe the cohort of patients in adult care who benefit from a new transition program based on case management approach, its activity and follow-up outcome...

ea0015oc34 | Thyroid | SFEBES2008

Maternal isodisomy for a novel human FOXE1 gene mutation in syndromic congenital hypothyroidsim

Castanet Mireille , Mallya Uma , Agostini Maura , Mitchell Catherine , Polak Michel , Demuth Stephanie , Raymond Lucy , Gurnell Mark , Chatterjee Krishna

Congenital hypothyroidism (CH), occurs with a frequency of one in 3–4000 and is most commonly due (85%) to complete or partial failure of thyroid gland development (dysgenesis). Several transcription factors (TTF-1/Nkx2.1, TTF-2/FOXE1, PAX-8), are highly expressed in the developing rodent thyroid. We first showed that the FKHL15 gene is the human homologue of TTF-2, identifying a homozygous, loss-of-function, mutation in two siblings with CH, thyroid agenesis, clef...

ea0073aep493 | Pituitary and Neuroendocrinology | ECE2021

Growth hormone treatment for adults with Prader-Willi syndrome: A meta-analysis

Rosenberg Anna , Passone Caroline , Pellikaan Karlijn , Damiani Durval , Aart Jan Van der Lely , Polak Michel , Bernardo Wanderley , Graaff Laura De

BackgroundFeatures of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, short stature, increased body fat and low muscle mass and strength. In children with PWS, GH treatment improves physical health, cognition and quality of life (QoL). GH treatment is standard of care in PWS children, but in adults this is not the case. A systematic review and meta-analysis was conducted to provide a concise...

ea0084op-08-41 | Oral Session 8: Basic 2 | ETA2022

BOREALIN/CDCA8 is necessary for an adequate thyroid morphogenesis and aging

Dider-Mathon Hortense , Stoupa Athanasia , Kariyawasam Dulanjalee , Ydes Sonny , Cagnard Nicolas , Nitschke Patrick , Scharfmann Raphael , Luton Dominique , Polak Michel , Aurore Carre

Background: Previously, we identified a novel gene, BOREALIN/CDCA8 in congenital hypothyroidism. Patients with BOREALIN mutations had thyroid dysgenesis, from asymmetric lobes to athyreosis (Carré et al. Hum Mol Genet 2017). Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis. We demonstrated a new feature of BOREALIN: involvement in the adhesion and the migration of the thyrocytes.<...

ea0016p18 | Adrenal | ECE2008

Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency

Zeina Chakhtoura , Anne Bachelot , Dinane Samara-Boustani , Jean-Charles Ruiz , Bruno Donadille , Jerome Dulon , Sophie Christin-Maitre , Claire Bouvattier , Marie-Charles Raux-Demay , Philippe Bouchard , Jean-Claude Carel , Juliane Leger , Frederique Kuttenn , Michel Polak , Philippe Touraine

Introduction: There are contradictory results concerning bone mineral density status in adult patients with congenital adrenal hyperplasia. To resolve this issue, we hypothesized that there could be a correlation between BMD and a total cumulative glucocorticoid dose from the diagnosis in early infancy to adulthood. We then conducted a retrospective in a referral centers for CAH. Thirty-eight adult patients (28 women, 10 men, aged 16–39 years) suffering from CAH and treat...

ea0093oc4 | Oral communication 1: Adrenal Diseases | EYES2023

Constitutional duplication of PRKACA gene is a cause of isolated primary pigmented nodular adrenocortical disease (PPNAD): Results of its systematic search in bilateral nodular adrenal disease

Vaduva Patricia , Violon Florian , Raverot Gerald , Espiard Stephanie , Attia Amina , Bouys Lucas , Perlemoine Karine , Chasavang Albin , Hieronimus Sylvie , Vantyghem Marie Christine , Polak Michel , Bruno Ragazzon , Jouinot Anne , Pasmant Eric , Bertherat Jerome

Background: Constitutional duplications of the PRKACA gene locus have been described as responsible for adrenal Cushing’s disease.The objective here was to evaluate the results of its systematic screening in bilateral adrenal nodular disease and to specify the associated phenotype.Methods: Between 2020 and 2023, 440 consecutive index cases with macronodular or micronodular adrenal hyperplasia or Carney Complex (CNC) w...

ea0035oc9.1 | Reproduction | ECE2014

High frequency of FGFR1 mutations in patients with congenital hypogonadotropic hypogonadism and split hand/foot malformation

Villanueva Carine , Jacobson-Dickman Elka , Xu Cheng , Dwyer Andrew , Sykiotis Gerasimos , Tommiska Johanna , Hu Youli , Leger Juliane , Carel Jean-Claude , Gerard Marion , Polak Michel , Tiosano Dov , Drouin-Garraud Valerie , Raivio Taneli , Bouloux Pierre , Sidis Yisrael , Mohammadi Moosa , Manouvrier Sylvie , De Roux Nicolas , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...