IMPE Abstracts

Growth is promoted by direct actions of GH on the growth plate and via the actions of GH-stimulated IGF-I production. There are 6 IGF-binding proteins (IGFBPs) that are differentially expressed in tissues and that bind the IGFs. In the circulation, after binding to IGF, IGFBP-3, and -5 also bind with the IGF acid labile subunit (ALS) to form a ternary complex, which increases the half-life of IGF-I. IGF must be liberated from this complex as it is free IGF-I (fIGF-I) that bind...

Testicular adrenal rest tumors (TARTs) are one of the most frequent comorbidities in Congenital Adrenal Hyperplasia (CAH) males resulting in infertility and hypergonadotropic hypogonadism; however, different prevalence rates have been reported and the predisposing factors are not known. Objective: To assess the TARTs prevalence in a pediatric CAH cohort, followed in a same center since diagnosis, and to identify the predictor factors. Patients and methods: data of 29 CAH patie...

Background: The leptin-melanocortin pathway regulates satiety and energy metabolism. Prohormone-convertase-1 (PCSK1) cleavage of hypothalamic proopiomelanocortin is an essential step in central leptin signaling and effects. The heterozygous N221D variant in PCSK1 is considered to increase obesity risk in humans through the decrease in enzymatic activity and/or loss of resilience to stressors and could also influence its role in proinsulin processing.<p cla...

Background: Obesity onset at early ages influences skeletal maturation, growth and the onset of adrenarche and puberty. How this influence is exerted, the differences between sexes and the influence of obesity severity are insufficiently addressed.Objectives: To explore the patterns and pace of pubertal development, including the pre- and pubertal growth spurt in children and adolescents affected with obesity.<p clas...

Introduction: Hypogonadism has a negative impact on bone quality, increasing the risk of reduced bone mineral density (BMD) and osteoporosis. Childhood cancer survivors are at risk of hypogonadism and are commonly submitted to puberty induction (PI). BoneXpert software assesses bone age (BA) from scanned X-rays and calculates the Bone Health Index (BHI) which correlates with the BMD values measured by dual-energy x-ray absorptiometry. The aim of this study was...

Background: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder with variable phenotype, mainly characterized by bone fragility, multiple fractures, bone deformities, short stature and non-skeleton findings like blue/gray scleras. The pharmacological approach for OI is based on the use of bisphosphonates to improve bone health. Since growth failure is a predominant feature of OI, recombinant human growth hormone (rhGH) treatment has been sugge...

Dicer one mutation syndrome is a familial tumour predisposition entity caused by mutations on Dicer 1, an important component of the micro-RNA processing pathway. Clinical manifestations include pleuropulmonary blastoma, anaplastic renal sarcoma, Wilms tumour, Sertoli Leydig cell tumour, differentiated thyroid carcinoma, ciliary body medulloepitelioma, embryonal rhabdomyosarcoma and primary brain tumours. We describe a case of a nine-year-old boy seen in the endocrinology clin...

Mechanisms underlying long-term sustained weight loss and glycemic normalization after obesity surgery involves changes in gut hormone levels, including glucagon-like peptide 1 (GLP-1) and peptide YY (PYY). Designing dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments co...

Up to 45% of youth with type 1 diabetes (T1D) have cardiovascular (CV) risk factors and may develop subclinical cardiovascular disease in the first decade of diagnosis. Physical fitness in youth have been shown to be associated with cardiometabolic risks factors among youths with and without diabetes.Aim: To examine the association between handgrip strength and cardiorespiratory fitness and the compliance of the ADA/ISPAD clinical guidel...

Background: The central melanocortin system is involved in metabolic control, receiving, and integrating metabolic signals, such as leptin. Biallelic mutations in several genes of this pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of the melanocortin system contribute to the development of obesity is poorly explored.Objectives: To explore the...