ESPE Abstracts

Aim: To highlight the role of in-vivo magnetic resonance spectroscopy (MRS), as a non-invasive tool that can clarify the specific etiology of a sellar tumour in a boy with precocious puberty.Case presentation: A 4-year-old boy was admitted due to repeated episodes of focal seizures with fixed gaze, head turn to the right, and postictal drowsiness. Parents reported episodes of inappropriate laughter ("gelastic seizures") in the pr...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

Introduction: Ghrelin is a growth hormone-releasing acylated peptide stimulating the appetite, mainly produced in the stomach, and with an important role in pubertal development (1). Two ghrelin forms have been described, acylated (AG) and desacylated (DAG), but it is debated whether DAG is an active hormone or a degradation product of AG (2). Our aim was to evaluate the effects of adding the protease inhibitor 4-(2-aminoethyl) benzenesufonyl fluoride hydrochl...

Background: A secular trend for the timing of menarche has been described in women, but for men, studies of pubertal timing are scarce. Both negative and positive associations between childhood obesity and pubertal timing in men have been reported. In Sweden, Child Health Care (CHC) centers follow all children regarding growth and general health. We have collected detailed CHC growth data (height and weight) from centrally archived records for all children born 1946 or later i...

Bacterial infection of the thyroid gland (acute suppurative thyroiditis, AST) is a very rare condition, particularly in children, as the thyroid gland is extremely resistant to infection. AST presents with painful tender mass in the anterior neck and is usually associated with fever, sore throat, dysphagia and limitation of the neck movements. In the most cases the left globe is affected. Common laboratory findings are leukocytosis, elevated erythrocyte sedimentation rate (ESR...