ESPE Abstracts

Background and aim: Subjects with Turner Syndrome (TS) show low cortical bone mineral density (BMD), osteoporosis and risk of fractures. Previously, we demonstrated the enhanced spontaneous osteoclastogenesis in girls and young women with TS before and after pubertal induction with hormonal replacement therapy (HRT). The bone resorption observed in girls before puberty induction seems to be supported by the high FSH serum levels observed at prepubertal stage, while in young wo...

Background: Despite high survival rates in childhood craniopharyngioma, prognosis is frequently impaired due to sequelae. Radical surgery was the treatment of choice for several decades. However, even at experienced surgical facilities radical surgery can result in hypothalamic disorders such as severe obesity.Objective and hypotheses: We analyzed, whether treatment strategies for childhood craniopharyngioma patients recruited in German studies (KRANIOPH...

Background: Macroprolactinomas in children below 10 years of age are rare. Usually prolactinomas respond well to dopamine agonists so that neurosurgical resection is rarely necessary. For non-responders to dopamine agonist therapy other extended treatment options have to be considered.Clinical case: We report a 14-year-old boy who presented at the age of 11 years with headaches for 5 years and progressive bilateral vision problems. The diagnosis of a mac...

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...

Introduction: The prevalence of PCOS in adolescents and young women was established at 4.3%. Whether women with a history of ICPP are at increased risk for PCOS is still controversial. There is no clear evidence that ICPP girls treated with GnRH analogues (GnRHa) are more likely to develop PCOS than their age-matched peers.Objectives: To assess the prevalence of PCOS in adolescents with a history of ICPP and further comp...

The contiguous gene deletion syndrome, CAH-X, was reported in an 8.5% of Congenital Adrenal Hyperplasia (CAH) patients with a TNXA/TNXB chimera. This results in deletions of CYP21A2 gene, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). There are three TNXA/TNXB chimeras (CH1, CH2, CH3) that differ in the junction site, resulting in TNXB haploinsu...

Background: Heterozygous GHR gene variants were found in 5–8% of idiopathic short stature (ISS) children. Frequent polymorphisms within GHR coding regions, but not intronic SNPs, have been investigated in ISS.Objectives: To characterize GHR gene variants in ISS children, and to test their influence on height and the peripheral GH/IGF1/IGFBPs system.Methods: GHR gene (coding/intronic flanking...

Background: Humanin is a novel signaling peptide which has been showed, by in vitro and in vivo studies, to improve insulin sensitivity. As plasma humanin levels decrease during adulthood, particularly during aging, it has been proposed that the increment of insulin resistance in aging might be associated with lesser humanin plasma values.Objective and hypotheses: The physiological insulin resistance observed during puberty in normal ch...

Background: Hypogonadotropic hypogonadism (HH) in females is an uncommon and heterogeneous condition. There is little data regarding biochemical profile of gonadotropins to further substantiate the diagnosis.Objective: To evaluate the gonadotropaic secretion profile after GnRH infusion in a female cohort diagnosed with HH.Patients and methods: GnRH iv infusion test (0–120 min) were performed in 17 patients (17.5±2.3 years...