ESPE Abstracts

Background: HSD17B3 deficiency is diagnosed when a testosterone/androstenedione (T/A-dione) ratio after hCG stimulation is below 0.8, and this cut-off value is primarily based on hormonal data measured by conventional immunoassay (IA) in patients with feminized or ambiguous genitalia suggesting severely compromised T production. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has been regarded as the gold standard for steroid measurement, and it is n...

Introduction: Androgens are essential for the development of male sex characteristics. Testosterone (T) production from androstenedione (A) by the Hydroxysteroid 17-Beta Dehydrogenase 3 (HSD17B3) in gonadal Leydig cells triggers the differentiation of the Wolffian ducts into epididymis, vas deferens, seminal vesicles and the prostate. Shortly after, the virilisation of the external male genitalia starts through the conversion of T into dihydrotestosterone (DHT...

Background: Congenital hypothyroidism (CH) can be categorized into two types: transient CH (group T) and permanent CH (group P). Several studies have recently demonstrated that the levothyroxine (LT4) dosage is useful for predicting LT4 requirement; however, none of the studies followed up their patients to puberty.Objective: To determine the cutoff value for the LT4 dosage as a predictor of LT4 requirement after puberty...

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...

Introduction: The prevalence of diabetes in Trinidad and Tobago (T&T) exceeds 12%. Monitoring of HbA1c is standard of care to assess diabetes control but assay reliability requires high precision and standardization to either DCCT or IFCC values and results should be monitored through proficiency testing (PT). In T&T a developing country there is no existing data on HbA1c precision and accuracy. Johns Hopkins Medicine International and the Diabetes Diagnostic Laborator...

Background: DMD is an X-linked recessive disorder, due to mutations of the DMD gene on Xp21, encoding dystrophin, characterized by high cytokines and progressive muscle degeneration, with loss of ambulation, increasing immobility and complicated by late cardio-respiratory failure. Use of high dose corticosteroid aims to prolong mobility, delay/reduce complications and to increase lifespan but adverse effects on bone health include bone loss and increased vertebral and long bon...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...