hrp0086p1-p739 | Pituitary and Neuroendocrinology P1 | ESPE2016

Evaluation of Puberty in Children with Sickle Cell Anemia: A Case Control Study in Yaounde, Cameroon

Mbono Betoko Ritha Carole , Sap Ngo Um Suzanne , Alima Yanda Anastasie , Chelo David , Ngo Sack Francoise , Tony Nengom Jocelyn , Simon Dominique , Chevenne Didier , Carel Jean Claude , Koki Ndombo Paul Olivier

Background: Puberty is reported to be impaired in children with Sickle cell Anemia (SCA). Studies about this topic are rare in Sub-Saharan regionObjective and hypotheses: Assessment of pubertal development of children with SCA compared to healthy children in Mother and Child Center, CHANTAL BIYA Foundation.Method: We matched a group of 64 children with SCA (26 males, 38 females) with 94 healthy controls aged of 8–17 years old....

hrp0082fc6.2 | Gonads & DSD | ESPE2014

Next Generation Sequencing of the Androgen Receptor Gene in Patients With Androgen Insensitivity Syndrome and Controls

Hornig Nadine , Schweikert Hans-Udo , Ukat Martin , Kulle Alexandra , Welzel Maik , Wehner Gaby , Werner Ralf , Hiort Olaf , Drop Stenvert , Cools Martine , de Beaufort Carine , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...

hrp0082p1-d1-145 | Growth | ESPE2014

Genotype–Phenotype Relationship in Patients with SHOX Region Rearrangements Detected by MLPA in the French Population

Auger Julie , Baptiste Amandine , Thierry Gaelle , Costa Jean-Marc , Amouyal Melanie , Kottler Marie-Laure , Touraine Renaud , Lebrun Marine , Leheup Bruno , Schmitt Sebastien , Cormier-Daire Valerie , De Roux Nicolas , Elie Caroline , Bonnefont Jean-Paul

Background: SHOX and enhancer regions on PAR1 disorders have variable phenotypic consequences such as idiopathic short stature (ISS) and Leri-Weill Dyschondrosteosis (LWD).Objective and hypotheses: The aim of this observational multicentric study was to describe phenotypes and genotypes of a large population with mutation on SHOX and adjacent regions and to identify a possible phenotype–genotype correlation.M...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

hrp0094fc10.5 | Thyroid | ESPE2021

Adjuvant Rituximab – exploratory trial in young people with Graves’ disease

Cheetham Tim , Cole Michael , Abinun Mario , Alalhabadia Amit , Barratt Tim , Kirk Jeremy , Davies Justin , Dimitri Paul , Drake Amanda , Murray Robert , Steele Caroline , Zammitt Nicola , Carnell Sonya , Howell Denise , Prichard Jonathan , Watson Gillian , Matthews John , Pearce Simon ,

Objective: Remission rates in young people with Graves’ hyperthyroidism are 25% or less after a 2-yr course of thionamide antithyroid drug (ATD). Immunomodulatory agents could potentially improve outcome by facilitating immune tolerance. We wanted to explore whether rituximab, a B lymphocyte depleting agent, would increase remission rates when administered with a short course of ATD.Design: This was an investigator-...

hrp0094p1-150 | Sex Endocrinology and Gonads B | ESPE2021

Androgen insensitivity without an androgen receptor mutation: results from a large cohort study

Hornig Nadine , Kulle Alexandra , Dombrowsky Gregor , Ammerpohl Ole , Caliebe Almuth , Schweikert Hans-Udo , Audi Laura , Cools Martin , Hannema Sabine , Stuart Annemarie Verrijn , Werner Ralf , Hiort Olaf , Holterhus Paul-Martin ,

Introduction: Androgen insensitivity syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the X-chromosomal androgen receptor (AR) gene. Nevertheless, in over 50% of individuals with clinical AIS no AR coding gene mutation can be found. We previously established an assay (apolipoprotein D (APOD) assay) that measures androgen dependent AR-activity in genital skin fibroblasts (GFs). Using this assay we identified a gro...

hrp0097p1-400 | Adrenals and HPA Axis | ESPE2023

11-oxygenated androgens as biomarkers in congenital adrenal hyperplasia: reference intervals for children

P.H. Adriaansen Bas , oude-Alink Sandra , W. Swinkels Dorine , A.M. Schröder Mariska , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen - van der Grinten Hedi , E. van Herwaarden Antonius

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

hrp0097p1-283 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Developing a Collaborative Research Network to Accelerate the Understanding and Treatment of the Rare Disease Congenital Hyperinsulinism

Pasquini Pasquini Tai , Raskin Julie , De León-Crutchlow Diva , Banerjee Indi , Christesen Henrik , Conwell Louise , Dastamani Antonia , Flanagan Sarah , Gillis David , Kalish Jennifer , Lord Katherine , Stanley Charles , Zangen David , Thornton Paul

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

hrp0098fc8.5 | Adrenals and HPA Axis 2 | ESPE2024

Free cortisol and free 21-deoxycortisol in the clinical evaluation of adrenal insufficiency in congenital adrenal hyperplasia

P.H. Adriaansen Bas , Utari Agustini , J. Olthaar Andre , C.B.M. van der Steen Rob , J. Pijnenburg-Kleizen Karijn , Berkenbosch Lizanne , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen-van der Grinten Hedi , E. van Herwaarden Antonius

Background: Some patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) survive without glucocorticoid treatment, despite low total cortisol levels. This may be caused by accumulating precursor steroids such as 21-deoxycortisol (21DF), which could contribute to the glucocorticoid activity. In addition, these precursor steroids may decrease the cortisol-protein binding, thereby increasing the free (biologically activ...