ESPE Abstracts

We present a monocentric cross-sectional study of 55 children referred between 2000 and 2020 for pituitary lesions, who underwent a complete pituitary function assessment. These data were compared to results obtained in a group of 295 adults carrying pituitary lesions undergoing a complete pituitary screening. Follow-up data was available for 50 children and 248 adults. The mean age at diagnosis in children was 12.2±3.7 years (range 2.1-17.9), while in adults was 48.7&#17...

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

Objective: To diagnose a 2-month old boy with micrognathia and proptosis.Method: We summarized the clinical manifestations of the patient. Blood tests and imaging examinations were performed. DNA was isolated from peripheral blood cells. Whole exosome sequencing (WES) was conducted. Copy number variation (CNV) and loss of heterozygosity (LOH) was analyzed by Affymetrix CytoScan.Result</stro...

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. In 2016, nusinersen (Spinraza) was approved by the FDA. The first AAV9-based gene therapy (Zolgensma), was approved by the FDA (2019) for the treatment of infants with SMA. We report an SMA case with recurrent hypoglycemic events after gene therapy.Case Report: A 22 months old boy, with SMA type 1 was born at term by CS for fetal bradycardia....

Introduction: Beta-thalassaemia major is an inherited anemia which requires chronic transfusions and is frequently associated with endocrine dysfunctions secondary to iron overload. The aim of this study was to identify the prevalence of various endocrine complications in beta-thalassaemia major children over a period of 14 years and the factors associated with them.Materials and methods: 61 children with BTM (mean age 12.23 years) registered at the Endo...

Background: Arteriovenous malformations (AVMs) are rare in kids, estimated to represent 3% of all AVMs. They tend to rupture more frequently than in adults and, usually, are brought to attention after rupture, as the most common non-traumatic intracerebral hemorrhage. AVMs could also present with recurrent seizures or headaches. Their optimal management remains controversial.Case report: We present the case of a 4.5 y old boy, presented in our department...

Background: Adenotonsillectomy is one of the most common surgical procedure performed in children in Romania. Child obesity also, seems to follow the same trend of increasing prevalence as worldwide.Objective and hypotheses: To determine if there is a relationship between adenotonsillectomy and postoperative weight gain in children.Method: The retrospective four year study included 235 children. After applying the exclusion criteri...

Background: Several studies suggested that hypothyroidism, especially subclinical hypothyroidism (SH), is rather a consequence than one of the causes of excessive weight.Objective and Hypotheses: We analyzed if there is a correlation between serum TSH, free thyroxine (FT4) and anthropometric measures in a group of overweight and obese children.Method: The study included 92 children (46 girls and 46 boys), mean age: 11.79...