ESPE Abstracts

Introduction: The umbrella term disorders of sex development (DSD) encompass a conglomerate of different genetic conditions affecting gonadal and adrenal function. Access to specialized health care and dissatisfaction with medical and psychosocial care is an issue for many adult patients. However, it is not evident which type of health care meets the needs of care seekers with DSD.Patients and methods: The European multidisciplinary outcome study dsd-LIF...

dsd-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (dsd). The multidisciplinary dsd-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology and ethics. The fields of investigation of dsd-LIFE are H...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

Purpose: To assess the prevalence in 2017 and elucidate the well-being of youngsters with gender dysphoria.Background: Gender dysphoria is described as a strong and persistent feeling of being born in the wrong sex. Often the feeling is associated with impaired ability to function in everyday life, found in children, adolescents and adults. For adolescents with gender dysphoria, puberty is an additional mental strain that can lead to depression, anxiety ...

Background: Ullrich-Turner-Syndrome is usually characterized by typical morphological features. Short status, delayed bone age in childhood and gonadal dysgenesis with delayed or lacking pubertal development, amenorrhoea and infertility. Other symptoms like thyroid dysfunction, heart defects, diabetes, behavioural or learning problems vary. The genotype/phenotype correlation may be poor. Especially in UTS mosaicism, spontaneous puberty may occur.Objectiv...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

Background: Hypoglycemia is the most common and most feared complication of insulin treated diabetes. Though mostly asymptomatic, nocturnal hypoglycemia can be fatal in rare cases: sudden nocturnal death is more frequent in diabetic patients than in others. It is postulated that hypoglycemia related QTc prolongation contributes to cardiac arrhythmia and can lead to dead in bed.Objective: To evaluate influence of nocturna...

Background: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been summarized as disorders of sex development (DSD). Included in DSD are conditions with diverse genetic etiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. Studies addressing these issues...