ESPE Abstracts

Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS and associate QOL with socioeconomic status, prevalence of somatic disease and mental illness, testosterone supplementation and age of diagnosis.<p class=...

Background: Puberty suppression using gonadotropin releasing hormone analogues (GnRHa) is recommended by current guidelines. Although GnRHa have long been used to treat children with precocious puberty there are few data on the outcome of this treatment in gender dysphoric adolescents.Objective and hypotheses: We aimed to evaluate the efficacy and safety of triptorelin to suppress puberty in a cohort of gender dysphoric adolescents.<p class="abstext"...

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

Background: Current guidelines recommend that gender dysphoric adolescents be treated with puberty suppression using gonadotropin releasing hormone analogues (GnRHa) followed by cross sex hormones. However limited data are available on the safety and side effects of this treatment. In adults changes in adrenal steroids have been observed during cross sex hormone treatment.Objective and hypotheses: We aimed to investigate the effect of GnRHa and cross sex...

Introduction: Generation of neutralizing antibodies (Nab) is a complication in enzyme replacement therapies and can lead to loss of treatment efficacy. Asfotase alfa (AA) was recently approved as the first replacement therapy in severe hypophosphatasia (congenital deficiency of alkaline phosphatase [TNSALP]). We report a case of neutralizing antibody mediated loss of efficacy of AA treatment in hypophosphatasia and the successful result of immune tolerance ind...

Background: Obesity is a major feature in several syndromes. In patients with early-onset severe obesity, 7% harbour a single locus mutation.Objective and hypotheses: We report a 3.11 year old male patient with early onset obesity (BMI 29.9 kg/m2 >>P97), ongoing excessive weight gain, autoaggressive behaviour, and delayed speech development. No growth retardation or further dysmorphic signs. Early postnatal feeding difficulties require...

Background: Long-acting somatostatin analogues have been reported to be an effective treatment option to prevent severe hypoglycaemia in children with severe diffuse congenital hyperinsulinism (CHI). Possible side effects include gallstones, growth retardation and necrotizing enterocolitis (NEC), the latter occurring in particular cases of newborns treated with octreotide. So far only short-acting octreotide is being used in early infancy, requiring multiple injections daily o...

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. Subsequently cross sex hormones can be given to induce pubertal development of the experienced gender. Only few data are available on the safety of this treatment. Lipid levels are known to increase during puberty and pubertal suppression may alter this increase. In gender dysphoric male-to female (MtF) adults oestrogens has been shown to result in a more fa...

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. The metabolic implications of the pubertal suppression have not yet been explored. Insulin sensitivity is known to be influenced by pubertal changes. During puberty a decrease in insulin sensitivity is normally observed.Objective and hypotheses: The effects of GnRH agonists on insulin sensitivity during 2 years of treatment in adolesce...

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...