ESPE Abstracts

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

Introduction: Salivary androgens represent a non-invasive marker of puberty that may have utility in population studies as well as in the clinical arena.Objectives: To establish normal reference values of salivary androgens using LC-MS/MS and demonstrate the correlations between salivary androgens and pubertal development in boys.Methods: School-based adolescent cohort study with t...

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most common preventable causes of mental retardation. Thyroid hormones (TH) are essential for normal development of auditory system. Deficiency of TH during fetal and early postnatal sensitive periods of ear development, results in various degree of congenital hearing impairments or even in deafness if TH substitution is not instituted within a critical ...

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

Background: Androgens play a pivotal role in non-reproductive tissues, such as the kidney, heart, and liver, as well as the pancreas. Since the androgen receptor is expressed in pancreas and liver cells, this raises the possibility that excess testosterone results in insulin hypersecretion, and in fetuin-A, a protein produced in the liver. However, whether fetuin-A and insulin levels are affected by androgens in classic congenital adrenal hyperplasia (CAH) due...

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...

Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.Case report: A 15-year-old ado...