ESPE Abstracts

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....

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 ...

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...

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...

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...

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-...

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...

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 ...

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...

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...