IMPE Abstracts

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...

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...

We describe a female patient with a contiguous gene deletion and duplication syndrome encompassing 223 genes, only manifesting features of BLM (Bloom Syndrome), AGLB1 (Fuchs' dystrophy) and ACAN (Aggreccan Gene Mutation). Our study was started with the observation and follow-up of a 8-year-old pre-term child with short stature (-2.8SD), a peculiar phenotype, microcephaly, ogival palate, short neck, wide nasal bridge, bushy eyebrows and eyelashes, scoliosis, umbilical hern...

Introduction: Insulin sensitivity is a marker of cardiovascular health. Young women in reproductive age with type 1 diabetes (T1D) have an increased risk of cardiovascular disease. The metabolic effects of combined oral hormonal contraception (OC) and progestin implant (implant) on insulin sensitivity in young women with T1D are unknown.Objective: To determine the effect on insulin sensitivity in young women with T1D of ...

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...

During transition phase, pituitary hormones, particularly GH, play a relevant role on body composition and bone maturation. Aim: to evaluate the effect of rhGH discontinuation during this period, particularly regarding time without treatment, IGF1 levels and the presence of hydrocortisone concomitant therapy on body composition and bone mass. Fourteen transition GHD patients (females:7) were evaluated by dual X-ray absorptiometry (DXA) after a period of discontinuation. Multip...

Fetal goiter is an extremely rare complication of pregnancy, presenting with a fetus with hypo or hyperthyroidism. A 24-year-old woman with a history of subclinical hypothyroidism at 6 weeks gestation and treated with levothyroxine was referred to our hospital at 22.5 weeks gestation with a report of an anterior cervical mass of 3.4 cm x 1.3 cm found on her structural ultrasound. Her last TSH was 4.38 uUI/mL, free T4 1.15 ng/dL. An MRI was performed at 26 weeks gestation, repo...

Background: Current safety of Recombinant human growth hormone (rhGH) treatment arises mainly from postmarketing surveillance. Headache is a relatively frequent symptom in children under rhGH. Secondary intracranial hypertension (SIH), is an adverse effect (AE), usually occurring within the first 12 weeks of treatment associated to headaches. Permanent visual defects are the most feared complication. Scarce information exists regarding incidence and natural hi...

The objective of this study was to determine the knowledge of pregnant women about the benefits of breastfeeding for the baby's health in the short and long term and also to compare the degree of knowledge with sociodemographic and clinical variables. This research is a cross-sectional, descriptive study, through questionnaires applied to pregnant women. Statistical analysis was performed with the SPSS 26.0 program, with a significance level of 5%. The questionnaire addre...