ESPE Abstracts

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...

Aim: To evaluate the metabolic status in children with Turner syndrome (TS) depending on the Tanner stage (Pre-puberty and puberty).Methods: The total studied group consisted of 85 children with TS from 8 to 17 years, who were regularly followed-up in the University hospital (Minsk) and age matched 72 healthy controls. TS was diagnosed in patients with characteristic phenotypic signs according to the results of karyotypi...

Objective: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients.Study Design: Descriptive study. Place and Duration of Study: Department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 20...

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...

Background: The association between Turner syndrome and Type1/ Type 2 diabetes is well known. Growth hormone is also utilized in Turner syndrome to improve height outcomes, but association of Turner patients with growth hormone deficiency is rare. To my knowledge, there are no cases of concurring Turner syndrome, Type 1 diabetes, and growth hormone deficiency.Objectives: To describe a rare case where a child diagnosed wi...

Introduction: Turner Syndrom (TS) is one of the most common chromosomic abnormalities. It associates almost constantly an ovarian dysgenesis and a growth delay (GD). The GD is often secondary to a peripheral resistance to the growth hormone (GH). The GH deficiency (GHD) is a rare cause of growth delay, the association between these two condition is even rarer.Patients and methods: We describe here the cases of 4 patients...

Prior to the clinical and commercial introduction of noninvasive prenatal testing (NIPT) by sequencing of maternal plasma cell-free DNA in 2011, most fetuses with Turner syndrome were detected by sonographic findings related to lymphedema or incidentally. NIPT, however, has transformed prenatal genetic screening, and an estimated 4–6 million tests have been performed worldwide. In the maternal plasma sample there is both maternal and placental cell-free DNA. Following a s...