ESPE Abstracts

Background: The assessment of childhood obesity involves rational use of diagnostic tests in individuals with physiological causes while not missing pathologies. We have developed obesity interpreter, a mobile application that provides individualized guidance regarding the workup of children and adolescents.Aim: To validate the diagnostic accuracy of mobile application in the evaluation of children and adolescents with o...

Background: Assessment of pubertal disorders is challenging for the pediatricians causing unnecessary evaluation on one hand while missing pathology on the other. The paucity of pediatric endocrine centers further adds to the problem in resource poor settings. We have developed puberty interpreter, a mobile application that provides instantaneous guidance regarding diagnosis and management of children and adolescents with concern for pubertal disorders based o...

Introduction: Robinow syndrome is a rare autosomal recessive and autosomal dominant disorder affecting the whole skeletal system. Autosomal recessive robinow syndrome is characterized by shortness of the long bones and vertebra anomalies. Less than 200 cases of autosomal recessive robinow syndrome have been reported in the literature.Case: The newborn was referred to pediatric endocrine clinic for disorder of penis devel...

Background: Hypothyroidism is frequently associated with muscular disorders and sometimes with moderately elevated levels of muscle enzymes. On the other hand, neuromuscular manifestations are rarely the only symptoms/signs present. Kocher–Debré–Semelaigne syndrome is a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy. Rhabdomyolysis due to hypothyroidism is very rare. A very high creatinine kinase level in the range seen with inflam...

Background: Boys with 21-hydroxylase deficiency (21-OHD) develop testicular adrenal rest tumors (TARTs) at a high percentage. TARTs may lead to testicular structure damage and infertility. Treatment consists of increasing the glucocorticoid dose to suppress ACTH or surgery when necessary.Objective and hypotheses: We present an adolescent with TART who was treated by testicular sparing surgery at the age of 11.Method: A 13 -year-old...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which ...

Background: Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. While the external genital structure is that of a normal virilized male, fallopian tubes and a uterus are observed in the internal genital structure. We present a case referred to our clinic because of female internal genital structure at laparoscopy during a surgical procedure performed due to undescended testes.Obje...

Aims: A decrease in health-related quality of life (HRQOL) measures among obese and overweight (OB/OW) children has been shown in several studies, but very little is known about the variables affecting HRQOL impairments. The aim of this study was to evaluate the relationship between HRQOL and sociodemographic characteristics, anthropometric measurements, metabolic parameters, mental symptoms and parental attitudes in the sample of OB/OWchildren.<p class="a...

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

Background: BMI to screen children for cardiometabolic risk has numerous drawbacks. Hypertriglyceridemic-waist (HW) phenotype is recognized as an effective screening tool to identify adults but role in children is not known.Objective and hypotheses: To evaluate HW-phenotype as an alternative for BMI in recognizing children (5–18 years) at risk for cardiometabolic risk factors.Method: Retrospective review of case records of chi...