ESPE Abstracts

Background: Most individuals with neonatal hypothyroidism present clinically asymptomatic or with few symptoms. Early treatment with oral levothyroxine prevents complications related to this disorder. We report a case of a male infant with Short Bowel syndrome (SBS) and congenital hypothyroidism (CH) treated with rectal levothyroxine.Case and presentations: A male patient with previous gastroschisis underwent multiple surgical approaches for small bowel ...

Background: SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family, a group best known for its ability to methylate their substrate and, by that, regulate gene expression. Heterozygous pathogenic variants in SETD5 are known to cause neurodevelopmental delay. We present two children with pathogenic variants in SETD5 and vertebral fractures with low bone mass. Individual 1 This 15-year old male of Caucasian an...

Leydig cell tumors(LCTs) are rare testicular tumors, representing 1-3% of them. They are usually unilateral but can be bilateral up to 3%. Its incidence is bimodal, peaking at 5-10 years (20%) and 25-35 year (80%). Malignant transformation has not been clearly proven in children, whereas in adults they are malignant in 10% of cases. The main clinical manifestation is a palpable, painless testicular mass associated in a variable percentage with endocrinological manifestations t...

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

Introduction: Graves’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

Introduction: Mitotane is an adrenal-specific agent available for treatment of residual adrenocortical carcinoma (ACC) after surgery, due to a specific, direct effect on adrenal cell mitochondria impairing adrenal steroidogenesis being associated with increased SHBG and modulates their disposal for target cell. We report a rare case of uterine bleeding during mitotane treatment in a girl with recurrent ACC.Case report: A 2.6 year-old girl was diagnosed w...

Background: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder with variable phenotype, mainly characterized by bone fragility, short stature and non-skeleton findings. Since growth failure is a predominant feature of OI, recombinant human growth hormone (rhGH) has been suggested as a potential intervention. We describe two boys with OI type I treated with rhGH.Case Reports: Patient 1 had the first frac...

Background and Aims: MicroRNAs play important regulatory roles in cholesterol homeostasis and endothelial dysfunction. The aim of present study was to characterize the expression of miRNAs in overweight/obese adolescents and to identify the possible correlation with metabolic profile and inflammatory biomarkers.Methods: 79 overweight and obese adolescents aged 13.0±2.0 years and 28 normal weight adolescents aged 13....