ESPE Abstracts

Introduction: Primary hypoparathyroidism is a rare cause of hypocalcemia, complicating various disorders. Clinical presentation ranges from asymptomatic patients to paresthesia, cramps, seizures, stridor, laryngospasm, cardiac arrhythmias, basal ganglia calcification, subcapsular cataracts, and dental enamel hypoplasia. This study aims to present the cases of two patients with rare causes of primary hypoparathyroidism and highlight the need for standardization...

The recent advances in the areas of artificial intelligence, machine learning, computer vision, wearable sensors and smartphone technologies permitted the introduction of systems that allows the monitoring, analysis and assessment of food intake, in terms of energy and nutrient content. To empower diabetic patients the Diabetes Technology Research laboratory of the ARTORG Center at the University of Bern (Switzerland) has developed GoCARB, a smartphone App, capable to translat...

Background: Hashimoto’s thyroiditis (HT) is the most common thyroid disorder in the pediatric population.Objective and Hypotheses: The aim of the present study was to observe clinical manifestations, clinical course and long term outcomes of HT in children and adolescents.Method: A total of 110 children and adolescents who presented to our center from 2008–2015, were evaluated retrospectively. Age and gender of the patien...

Background: Thyroid stimulating hormone (TSH) and free thyroxine (fT4) levels in children with obesity vary from normal to elevated. Thyroid hormones influence body weight, heart rate, serum lipids as well as carbonhydrates metabolism.Objective and hypotheses: The aim of current study is to determine the relation between thyroid function in obese and overweight children and clinical-laboratory parameters which have been associated with i...

Background: Children and adolescents who have a gender identity that does not correlate with their assigned gender (based upon genital anatomy and chromosomes) are described as Gender-Dysphoric/Gender-Incongruent Persons (GD/gender incongruence) based on the ICD-11 classification of the World Health Organization.Objective: The case of a young teenager with Gender Dysphoria Disorder.Case presentation: A boy, aged 13 and 4/12 years, ...

Introduction: Klinefelter syndrome (KS) occurs in approximately 1 in 650 males, representing the most common sex chromosome disorder. However, it is estimated that only 25% of KS patients are ever diagnosed, and 90% of them are not identified until 15 years of age. The disease is caused by congenital aneuploidy of the sex chromosomes; the most usual karyotype being 47, XXY. Typical phenotype includes tall stature, hypergonadotropic hypogonadism, small ...

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...

Treatment with Recombinant Human GH (rhGH) has been of significant value in promoting quality of life in children with GH deficiency. However, it has been associated with several side-effects in the literature, including hypothyroidism, usually transient during the replacement therapy. The aim of this study was to evaluate the side effects of hGH replacement therapy, among children who were followed up at the Pediatric Endocrinology Outpatients Unit of our hospital during the ...

Background: Individuals with celiac disease are more likely to develop autoimmune thyroid disease compare to the general population and vice versa. Undiagnosed in childhood and adolescence, both diseases compromise final height. Clinical experience shows that near complete catch-up growth is possible in infants and young children, but not in children near or in puberty.Objectives: To report on the impressive acceleration of arrested growth in a 13 year o...

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...