ESPE Abstracts

Introduction: Testicular regression syndrome (TRS) is a rare disease characterized by testicular dysfunction that causes varying degrees of virilization defect according to the emergence period in fetal life. The majority of cases present with normal male external genitalia. However, ambigious genitalia or, more rarely, female external genitalia can be found depending on the extent and timing of the intrauterine accident. Here, we present a case of TRS with no...

Background: Type 1 diabetes (T1D) is a risk factor for cardiovascular disease (CVD) and alterations may manifest as early as in adolescence. Increased physical activity and reduced sedentary behavior reduce the risk of CVD development in general adult populations, but knowledge is limited on their associations with early markers of CVD risk in pediatric T1D.Objective: Estimate associations of physical activity and sedent...

Background: Type 1 diabetes mellitus (DMI) is a chronic disease that requires frequent visits in outpatient pediatric endocrine clinics in order to rearrange their new lives.Objective and hypotheses: A retrospective study of patients with DMI was performed during 2008–2015, assessing epidemiological and clinical data, treatment and subsequent course.Method: We analyzed the incidence, age and gender of 75 patients at the diseas...

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: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest prem...

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

Background: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...