IMPE Abstracts

Constitutional delay of puberty (CDP) and congenital central hypogonadism (CH) show great overlap in clinical features and in gonadotrophin and testosterone serum concentrations in boys. The gold standard to distinguish both entities relies on the assessment of pubertal stage beyond 18 years of age. The long lasting insufficient FSH activity in boys with congenital CH may result in lower AMH and inhibin B serum concentrations compared with boys with CDP....

In pediatrics, thyroid tumor stratification is difficult to assess. Epithelial-mesenchymal transition (EMT), plays a role in tumor development. In human carcinomas Brachyury (Brachy) has been identified as a regulator of EMT associated to malignancy. The Insulin Like Growth Factors (IGFs) are mitogens that play important roles in both normal and neoplastic growth. To date, no information about Brachy and IGF1R expression in pediatric thyroid nodular disease is available.<p...

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...

Context: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEA and DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been observed in girls with premature adrenarche. On the other hand, epigenetic control of some genes that code for enzymes that participate in the synthetic pathway to 11-oxyandrogens (e.g., CYP11B1) has been describ...

Introduction: Measuring peak plasma cortisol after pharmacological stimulation induced by insulin tolerance test (ITT) and glucagon (GST) is often necessary to confirm or rule out the diagnosis of Central Adrenal Insufficiency (CAI). However, cortisol concentration cutoffs are still controversial, and these tests may result in adverse effects.Objectives: In patients who underwent ITT and glucagon test, to evaluate: the c...

Background: Persistent hypoglycemia in pediatric patients is the clinical manifestation of different hormonal and metabolic disorders and expose them to a high risk of brain damage. Appropriate management should include staggered strategy to achieve the underlying etiology.Aim: To describe an infant with recurrent hypoglycemia due to Stage 4 Neuroblastoma (4SNB) behaving as an “IGF2-OMA”.<p class="abstext...

Introduction: Puberty is a complex biological phenomenon where secondary sexual characteristics develop, complete sexual maturation and adult size is reached. Central precocious puberty (CPP) in girls is defined as the progressive appearance of sexual characteristics before 8 years old, with advanced bone age and acceleration of growth velocity, due to pituitary gonadal axis activation. Multiple studies have shown an increased incidence of CPP and a faster rat...

Introduction: The IHH gene (Indian hedgehog) is predominantly expressed in the developing skeleton. It encodes a protein produced by chondrocytes and involved in the IHH signaling pathway of paracrine cartilage growth factors (1). This protein, together with the PTHrP (parathyroid hormone-related protein) system, coordinates the proliferation and hypertrophy of chondrocytes (1). Inactivation of the IHH in humans causes numerous skeletal chondrodysplasias, incl...

Introduction: GH peak after GH stimulatory tests (GHST) diagnoses GH deficiency (GHD).Aims: To identify GH peak cutoff best discriminating GHD and non-GHD short stature (SS) patients.Methods: 901 children (0-18 yrs) were submitted to 1348 GHST between 2001 and 2016. We selected 458 patients suspected to have isolated SS (ISS= isolated GHD, familial SS, idiopathic SS) or GHD+ hypopi...

Human growth is highly dependent on the GH-IGF-I axis. GH binding to GH receptor activates janus kinase 2 (JAK2)-signal transducer and activator of transcription 5b (STAT5b) pathway which stimulates transcription of IGF1, IGFBP3, and IGFALS. Although STAT5b deficiency was established as an autosomal recessive disorder, heterozygous dominant-negative STAT5B variants were reported in patients with less severe growth deficit and milder immune dysfunction. Our aim was to develop a...