ESPE Abstracts

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.<...

Objectives: The aim of this study was to report on the frequency and describe the clinical characteristics of the ones diagnosed as thyroid cancer among all suspicious nodules diagnosed in the pediatric endocrinology department and to compare the findings with recent published literature.Methods: Retrospective study during the last 5 years. Patients aged <18 years, with suspected thyroid nodule malignancy, according t...

Introduction: Increased frequency of Grave’s disease (GD) has been reported both in adults and youth during the COVID-19 pandemic. Aim: To compare the frequency of GD prior and during the COVID-19 pandemic.Methods: Retrospective analysis of children diagnosed with GD over the last 13 years in our Department.Results: A total of 22 children (31.8% boys) with a mean age of 10.55...

Background: Premature adrenarche (PA) is characterized by the appearance of pubic and axillary hair associated with an increase in adrenal androgen production, in the absence of central puberty, steroidogenic enzyme defects, or virilizing tumors, before the age of 8 years in girls and 9 years in boys. Studies have shown increased likelihood of PA for children with obesity and those born small for gestational age (SGA).Aim:</stron...

Background: Allogeneic hematopoietic stem cell transplantation (HSCT) has emerged as an increasingly successful option to cure a variety of malignant disorders in children. Children benefit from improved survival; however, HSCT is associated with numerous acute and long-term toxicities. Osteoporosis is a well described, late effect of allogeneic HSCT, associated with corticosteroid treatment and patients exposed to cumulative doses >9000 mg/m2 of prednisone...

Background: Patients who present with clinical and laboratory findings of pituitary dysfunction and whose MRI findings reveal increased pituitary size or thickening of pituitary stalk, pose a diagnostic challenge. The differential diagnosis mainly includes dysgerminoma, histiocytosis, and hypophysitis. A non-invasive approach is often non-diagnostic.Objective and hypotheses: To present two patients with similar clinical picture and positive MRI findings,...

Objectives: Assess thyroid volume in relation to TSH and FT4 at diagnosis of AHT and 2.9 years of follow up in children with SH or OH.Methods: wo hundred one children (155 girls) with AHT were divided according to TSH and FT4 levels [SH-FT4 >1.0 ng/dl: Group 1: TSH: 5-7.5 mU/l, Group 2: TSH: >7.5 mU/l, OH: Group 3: TSH>7.5 mU/l and FT4 ≤1.0ng/dl]. Mean L-T4 dose is reported in µg/Kg/day. Thyroid...

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...

Objectives: Assess the dose of levothyroxine in relation to TSH and FT4 levels at diagnosis of AHT in children with SH and OH.Methods: Eighty eight children (69 girls) with AHT were devised in regard with TSH and FT4 at diagnosis [SH-FT4 >0.9 ng/dl: Group 1: TSH: 4.5-7 mU/l, Group 2: TSH: 7-10 mU/l, Group 3: TSH: >10 mU/l and OH: Group 4: TSH>10 mU/l and FT4 ≤0.9 ng/dl]. Mean L-T4 dose was reported in μgr/Kg per day at diagnosis an...