ESPE Abstracts

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

Background: Pubertal tempo of breast development on natural sex-steroid replacement therapy in girls with multiple pituitary hormone deficiencies (MPHD) and pubertal growth spurts on adequate GH-treatment regimens were unknown in 1989 and are still not known.Objective and Hypotheses: A hypothesis driven prototype trial1,2 was initiated in the late 80ies aiming to mimic normal puberty regarding both pubertal ma...

Background: Mauriac Syndrome (MS) is currently an extremely rare complication in type 1 diabetes mellitus (DM1). It is characterized by the triad: poor metabolic control, dwarfism and hepatomegaly. Other findings are elevated transaminases, dyslipidemia, cushingoid features and delayed puberty.Case: Male patient with DM1 since 5 years age. Coinciding with a family breakdown, from the age of 7 his metabolic control deteriorated significan...

Background: Erythrocytosis is characterized by increased number of red blood cells. Primary form is also known as polycythemia vera, while secondary forms can be due to several causes, among which hyperandrogenism. Although the association of severe hyperandrogenism and polyglobulia is known, literature data concerning this comorbidity are overall scanty, and completely lacking in pediatric age.Case report: We report the history of a 14 years-old girl ad...

Background: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...

Background: in general population Hurthle cell cancer (HCC) accounts for 3-7% of all differentiated thyroid cancers (TC) with a more aggressive course, while its relative prevalence and behavior in childhood is uncertain due to the lack of specific literature reviews.Objective: to describe the largest pediatric HCC cohort to date reported and to estimate its relative prevalence among TC variants in childhood.<p c...

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...