ESPE Abstracts

Background: Ovotesticular disorder of sexual development (DSD is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side.Objective and hypotheses: To discuss rare cases of ovotesticular DSD and one of the novel findings of these cases.Methods and patients: Case 1 is the first child of unrelat...

Background: Previous studies have indicated that taller individuals have a higher risk of developing different types of cancer, including breast cancer and melanoma.Objective and hypotheses: Our goal was to study any association between height and the risk of cancer in general-, and breast cancer and melanoma specifically in a very large cohort composed of most Swedish women and men followed over a long period of time.Method: We ha...

Background: Recently, T3 receptor alpha (TRα) mutations have been identified in a number of patients with varying degrees of growth impairment, delayed development, constipation, increases in serum T3 and decreases in T4 and rT3.Objective: To determine the spectrum of clinical and functional consequences of novel TRα mutations.Method: Clinical assessment and biochemical, imaging...

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: Hypothalamic obesity caused by childhood–onset craniopharyngioma results in long–term cardiovascular morbidity. Knowledge about clinical markers and risk factors for cardiovascular morbidity is scarce.Patients and Methods: A cross–sectional study on transthoracic echocardiographic parameters was performed to determine the associations with clinical and anthropometric parameters in 36 craniopharyngioma patients....

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

Introduction: The prevalence of diabetes for all age-groups worldwide was estimated to be 28/1000 in 2000 and 44/1000 in 2030 (1). In the SEARCH study in a population of 3,458,974 US youth less than 20 yrs the prevalence of T1D was 1.93/1,000 and type 2 diabetes 0.24/1,000 (2).Methods: We reviewed data on already diagnosed patients with type 1 and type 2 diabetes from official statistical collection of Ministry of Health of Kazakhstan in 2016 (3).<p ...

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

Background: The well-documented increased cardiometabolic risk in haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors is under-recognised using standard (International Diabetes Federation (IDF)) metabolic syndrome (MetS) criteria. This is defined as the presence of central adiposity using increased waist circumference (WC) or BMI, (often not abnormal in HSCT/TBI survivors despite increased central adiposity), plus additional features includ...

Background: Childhood obesity associated with risk of developing metabolic syndrome (MetS) and paucity in Indian literature regarding correlation between clinical and biochemical parameters in obese and MetS.Objective and hypotheses: Comparing clinical and biochemical correlation of obese children, controls and MetS.Method: Eighty children (40 obese and 40 age and sex matched controls) 5–18 years recruited after approval by In...