IMPE Abstracts

Introduction: Klippel-Trenaunay syndrome is a rare disease, characterized by capillary malformations, vascular anomalies and hypertrophy of bony and soft tissues. In this disease adrenal pseudocyst and rarely Cushing syndrome due to bilateral adrenal gland adenomas had been described.Objective: To report findings in adrenal gland in a patient with Klippel-Trenaunay syndromeCase Report:</str...

To describe the BMD at FH of well-controlled PKU patients we retrieved retrospectively, data from 18 compliant moderate/severe patients (7 female), under conventional treatment since diagnosis. Eleven had received sapropterin dihydrochloride (BH4) since puberty, increasing their phenylalanine intake. FH, mid-parental height (MPH), genotype, fractures, and tolerance to phenylalanine intake (tol) before and after BH4 were considered. Total Body (TB) and Lum...

Introduction: Graves’ disease (GD) is an immune-mediated thyrotoxicosis characterized by hypertrophy and hyperplasia of the thyroid follicles and accounts for 50-80% of all cases of pediatric hyperthyroidism. Thyroid nodularity is a common feature of GD, with an estimated prevalence of 25% – 53%. Thyroid nodules are less common among children than adults, being 20% malignant. The presence of GD and toxic nodular goiter is a rare finding, known as M...

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

Introduction: Thyroid Hormone Resistance (THR) is an uncommon genetic condition caused by decreased tissue sensitivity to thyroid hormones (THs). The main finding is the presence of elevated THs levels with unsuppressed TSH. In THR clinical signs of hormonal deficiency, sufficiency and excess can coexist.Aim: To report the clinical and biochemical findings in patients withTHR, highlighting common characteristics that cou...

Recalled newborns in the screening for Congenital Adrenal Hyperplasia (CAH) could be due to analytical steroid interferences. Ultra-high pressure liquid chromatography coupled to tandem mass spectrometry (UHPLC-MS/MS) constitutes the gold standard for serum steroid quantification.Objective: To describe the serum profile of a panel of 8 adrenal steroids by UHPLC-MS/MS in recalled infants for CAH.Methods:</st...

Introduction: Pediatric hypercalcemia is a rare condition. It occurs due to an imbalance between the endocrine system (PTH, calcitriol) and its target organs (bone, kidney and intestine). It is produced by multiple causes. Although it is usually asymptomatic, sometimes it could become an emergency, with increased morbidity and/or mortality.Objective: To describe etiologies, biochemical profiles, clinical characteristics ...

Introduction: Phaeochromocytomas and paragangliomas (PPGLs)are rare neuroendocrine tumors. The number of genetically determined PPGLs with specific variants rises to approximately 70%. The genetic status of patients with PPGLs is key for precision diagnosis, treatment and surveillance of affected patients and their families. Pathogenic gain-of-function variants in EPAS1gene, mainly as germline mosaicism or somatic mutations, cause its activation and l...

Testicular adrenal rest tumors (TARTs) are one of the most frequent comorbidities in Congenital Adrenal Hyperplasia (CAH) males resulting in infertility and hypergonadotropic hypogonadism; however, different prevalence rates have been reported and the predisposing factors are not known. Objective: To assess the TARTs prevalence in a pediatric CAH cohort, followed in a same center since diagnosis, and to identify the predictor factors. Patients and methods: data of 29 CAH patie...

Background: Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder commonly caused by MAFB gene mutation. It is characterized by aggressive carpo tarsal osteolysis frequently associated with progressive nephropathy. MAFB negative regulates receptor activator of nuclear factor κB ligand - (RANKL) mediated osteoclast differentiation.Problem: The diagnosis and treatment of MCTO represents a ch...