ESPE Abstracts

Context: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone (GH) treatment are well established. Currently, when young adults with PWS have attained adult height (AH), they have to stop GH treatment. Several one year studies have shown that GH treatment is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects.Objective: To investi...

Background: Sex differences in disease susceptibility might be explained by a sexual dimorphism in hypothalamic-pituitary-adrenal axis activity, which has been postulated to emerge during puberty. The aim of this study is to assess the contribution of pubertal development to sexual dimorphism in cortisol production and metabolism.Methods: Participants, born between 1995 and 1996, were enrolled from the population-based N...

Introduction: According to EAU's guidelines, hypospadias (HS) repair is best performed between 6 and 18 months of age. Little is known about the long-term patient satisfaction or urological outcome following HS surgery.Aims: To examine the psychosexual and urological outcome of young adult men (16-21 years old) born with all forms of non-syndromic HS as compared to healthy controls, as well as patient and parental sa...

Summary Answer: The majority of the expert panel states that ovarian tissue cryopreservation (OTC)should be offered to young females with Turner syndrome (TS)Background: OTC is a valid option to preserve the fertility of young females at risk of iatrogenic premature ovarian insufficiency (POI). Offering OTC to females with a genetic cause of POI seems a logical next step. One of the most common genetic disorders related ...

Introduction: Mutations in the thyroid hormone (TH) transporter MCT8 result in MCT8 deficiency, which is characterized by severe intellectual and motor disability and high serum T3 concentrations inducing thyrotoxicity in peripheral tissues. At present, no effective treatment is available, although preclinical studies suggest that the T3 analog Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling in t...

Introduction: Congenital adrenal hyperplasia (CAH) is most often caused by 21-hydroxylase deficiency (21OHD: 95%) or by 11-hydroxylase deficiency (11OHD). Classic CAH results in impaired cortisol production and consequently elevated ACTH concentrations leading to chronic adrenal stimulation with strongly elevated adrenal steroid precursors before the enzymatic defect. In contrast to other forms of adrenal insufficiency, some untreated classic CAH patients seem to have less cli...

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

Background: Congenital adrenal hyperplasia (CAH) patients are clinically often less severely affected by cortisol deficiency than anticipated from their enzymatic defect.Objective and hypotheses: We hypothesize that adrenal steroid hormone precursors that accumulate in untreated or poorly controlled CAH have glucocorticoid activity and partially compensate for cortisol deficiency. We aimed to determine the in vitro binding, translocation and tra...

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...