ESPE Abstracts

Introduction: The low-dose synacthen test (LDT) is widely used to assess central adrenal insufficiency (CAI); however, the total serum cortisol (C) cut-off value is controversial. A correct diagnosis of CAI is required, but overdiagnosis may lead to unnecessary hormone replacement therapy. Salivary cortisol (SC) reflects the levels of free serum cortisol and is a noninvasive alternative.Objective: To define a new cut-off value of serum cortisol in pediat...

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

Background: Recent data describe that the gonads of patients with partial gonadal dysgenesis (PGD) and mutation in the NR5A1 gene can present with a different histological pattern.Objective and hypotheses: To evaluate histological aspects of PGD caused by NR5A1 mutations.Method: Five patients with PGD, a history of gonadal biopsy or gonadectomy and confirmed mutation on NR5A1 gene were selected from a Bra...

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...

Background: Increased prevalence of autoimmune thyroid disease (ATD) in patients with type 1 diabetes mellitus (T1DM) has been extensively described. Since 1996, screening for thyroid disease has been implemented in children and adolescents with T1DM and is performed at least annually.Objective and hypotheses: The aim of this study is to determine the natural history and incidence of ATD in T1DM pediatric patients and the relationship between positive an...

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in childhood and adolescence. Poor metabolic control is associated with numerous and onerous consequences. HbA1c levels are important in the assessment and monitoring of metabolic control in T1DM. Therefore, it is essential to know the causes of its variability.Objective and hypotheses: Determine the impact of age and time of disease in the value of HbA1c in children...

Background: Type 1 diabetes mellitus (T1DM) is the second most frequent chronic disease in childhood and adolescence. Chronic hyperglycemia is responsible for numerous long term complications, not only microvascular (retinopathy, nephropathy and neuropathy), but also macrovascular (ischemic cardiopathy, cerebrovascular disease and peripheral vascular disease). On the other hand, the T1DM immune modification is responsible for an increased incidence of other autoimmune diseases...

Introduction: Bilateral adrenal hemorrhage is a rare pathology, contrary to what happens with unilateral ones. It is more common in newborns and associated with situations of perinatal hypoxia, sepsis, traumatic births, or coagulation abnormalities. The classic triad includes jaundice, anemia, and a flank mass, which can lead to severe shock. Extensive bilateral hemorrhage is required to produce a situation of adrenal insufficiency. The diagnosis is made by im...