ESPE Abstracts

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: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

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: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

Background: A virus initially considered benign in this age group, SARS-COV-2 has recently been associated with Pediatric Multisystemic Inflammatory Syndrome (PIMS), temporarily associated with COVID-19, a syndrome whose diagnostic determination has a vital relevance since it imposes unfavorable outcomes. This study aims to describe the sociodemographic characteristics of PIMS in Brazil and the factors associated with death by this syndrome.<p class="abste...

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...