ESPE Abstracts

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 ...

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: GH treatment aims to normalise growth, increasing growth velocity, thus helping patients achieve an adult height in the normal range for the general population and for their familial genetic potential.Objectives: To evaluate the efficacy of early replacement therapy with recombinant GH (rGH) in Caucasian pre-pubertal children treated for GH deficiency.Methods: Our study included 64 boys and 49 girls, diagnosed with part...

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

Background: “SHORT syndrome” is a rare condition and mnemonic for Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay. The features most consistently observed in SHORT syndrome are mild intrauterine growth restriction; mild to moderate short stature; partial lipodystrophy; and a characteristic facial gestalt (small chin, triangular shaped face, prominent forehand, abnormal positioning large ears and thin wrinkled...

Background: Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, anterior pituitary hypoplasia and an interrupted pituitary stalk. In some cases, a variety of additional congenital defects may be present. A genetic cause is identified in only around 5% of all cases.Case presentation: A 13-year-old male presented to the pediatric endocrinology clinic because o...

Introduction: ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, hypothalamic and autonomic dysregulation) is a rare and complex disease with potential fatal outcome. To this day there have been 158 cases reported in the literature while whole exome sequencing has not yet revealed any responsible genes. It usually presents at the age of 2-4 years and the diagnosis is based on the following criteria: 1) rapidly progressive obesity that develops at the a...

Background: Obesity is associated with alterations in glucose metabolism, often present from childhood.Objective and hypotheses: To assess the prevalence of glucose metabolism alterations and insulin resistance in a group of obese, otherwise healthy children and adolescents from Greece.Method: It is a retrospective study of 130 obese children and adolescents, 79 girls (61%), aged 5.4 to 15.2 years (mean±S.D.: 10...

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

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...