IMPE Abstracts

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...

Objectives: Vosoritide is a potent stimulator of endochondral bone growth and is in development for the treatment of achondroplasia, the most common form of disproportionate short stature. We previously reported on a 52-week, phase 3, pivotal study that demonstrated a significant improvement in annualized growth velocity (AGV) when vosoritide was compared to placebo in children with achondroplasia aged 5-18 years (Savarirayan et al, Lancet, 2020). Thi...

Introduction: Sphingosine-1-phosphate lyase 1 (SGPL1) deficiency is a recently discovered syndrome that associates primary adrenal insufficiency, hypothyroidism, nephrotic syndrome and neurological disease. We report two siblings with this condition and different clinical course.Case 1: A 5-year-old boy with a history of three episodes of gastroenteritis with dehydration was evaluated (Table 1). Glucocorticoid adrenal de...

Introduction: Cushing's disease (CD) in the context of chronic kidney disease (CKD) is very rare. CKD causes physiological hypercortisolism making the diagnosis of CD extremely difficult.Aim: To report 3 female patients with CKD and CD and to outline the principles that may guide the diagnosis of CD in this context.Case report: P1. A 12.3-year-old patient with CKD secondary to...

Objective: Identify the factors association with the serum level of RIAO (real IAPP amyloid oligomers) <3.02 μg/ml at the diagnosis of the DM2 as a predictor of development of chronic complications in children and adolescents.Type of study: Historical cohort, observational, longitudinal, futurology, comparative,Materials and methods: The DM2 patients with determinations of RI...

Introduction: Thyroid nodules (TN) in childhood are infrequent, however, malignancy is reported in around 25%. Thyroid cancer is the most common endocrine malignancy in this age and has clinical, histopathological and molecular differences compared to adults. Fine needle aspiration biopsy (FNAB) is a sensitive test in the pediatric population to exclude malignancy, however, the implied malignancy risk in each reported category is extrapolated to adult populati...