ESPE Abstracts

Background: The pathogenesis of hyperthyroidism varies greatly, with familial non-autoimmune autosomal dominant hyperthyroidism being a rare cause. In patients who are genetically related, thyrotoxicosis develops without the clinical features of autoimmunity. In this study, we present five family members with familial hyperthyroidism who have a confirmed mutation of p.Ser237Asn in the TSHR receptor.Case Report: Our patient, a 13,5- year-...

Background: Recently, mutations in the highly conserved transactivation domain of MAFB gene have been identified as a cause of multicentric carpo-tarsal osteolysis (MCTO), rare skeletal disorder characterised by extensive bone resorption predominantly of the carpal and tarsal bones and frequently accompanied by progressive renal impairment. The MAFB is a basic leucine zipper transcription factor that is involved in the regulation of osteoclastogenesis and renal develo...

Introduction: In pediatric years, the most common cause of primary adrenal insufficiency is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Current Endocrine Society guidelines advocate for the use of perioperative supraphysiologic (often referred to as ‘stress dose’) glucocorticoids for children with primary adrenal insufficiency undergoing general anesthesia or surgery. We perceived a difference in practice patterns amongst pediatric subspeci...

Congenital hypothyroidism (CH) occurs in approximately 1:2000–1:3000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital ‘G. Di Cristina’, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH...

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...

Introduction: The new technologies in diabetology improved not only HbA1c, but also ‘Time in range’, ‘Glycemic variability Index ‘/GVI/, and ‘Patient’s Glycemic Status’ /PGS/. Parents of children and patients with diabetes demonstrated impatience for artificial pancreas systems /APS/. They initially created ‘Nightscout’ platform for remote monitoring of the glucose sensors and then – Do It Youself Open Source Artificial Pancrea...

Background: Growth response in growth hormone deficient children during growth hormone (GH) replacement therapy rarely fulfil our projections and patient’s expectations. We here report 3 cases with outstanding growth response.Case reports: First patient was diagnosed as gluten enteropathy in early childhood, but the diet did not improve his growth. At age of 7 years the diagnosis of isolated growth hormone deficiency (GHD) was established and GH sub...