ESPE Abstracts

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...

We introduce the ReTRIACt Trial (NCT05579327) of tiratricol (Triac) for MCT8-deficiency, a rare X-linked disease resulting from disordered thyroid hormone transport and characterized by profound neurodevelopmental delay and features of chronic peripheral thyrotoxicosis. The ReTRIACt Trial aims to verify the effects of tiratricol observed in previous studies. It is a double-blind, randomized, multicenter, placebo-controlled study to evaluate the effects of tiratricol discontinu...

Introduction: The ESPE e-Learning web portal is a free, globally accessible online tool to enhance learning in Paediatric Endocrinology and Diabetes. Since August 2022, the e-learning content includes 30 accredited hours of ESPE/ISPAD e-learning Continuing Medical Education (CME) courses with ten core modules each in Paediatric Endocrinology, Paediatric Endocrinology in Resource Limited Setting (RLS) and Paediatric Diabetes. The CME modules were created by wor...

In Belgium, neonatal TSH screening for congenital hypothyroidism has been performed between day 3 and 5 of life since the late seventies. In January 2015, a policy of early discharge of healthy neonates was implemented so that the neonatal screening strategy had to be adapted. Between January 2015 and September 2019, dried blood spot sampling was mostly collected at home AFTER discharge at 72 h of life (Newborn Screening Strategy 1 (NBS1)). After October 2019, sampling was mos...

Background: Pubertal growth and adult height are important to many transgender adolescents undergoing medical transition. However, few studies are available on the impact of puberty suppression (PS) with GnRH analogues (GnRHa) and hormonal therapy (HT) with testosterone on growth. In this longitudinal cohort study, we investigated the effect of PS and HT on growth and adult height in transgender boys.Methods: A total of ...

Background: Being born small for gestational age (SGA) has been associated with a reduction in health-related quality of life (HRQoL) and more problem behaviour. Growth hormone (GH) treatment, which leads to a significant improvement in adult height (AH), improves HRQoL and decreases problem behavior in SGA children. However, such results are very limited in SGA adults who were treated with GH during childhood.Objective:...

Introduction: Following the onset of the COVID-19 pandemic in spring 2020, the European Registries For Rare Endocrine Conditions (EuRRECa), which is a collaboration between Endo-ERN, ESPE and ESE provided the possibility for registration of cases. Obesity is a risk factor for severe COVID-19 disease course in adults. In children and adolescents, COVID-19 disease course is much milder, but has also been identified as risk factor. As rare genetic obesity disorde...

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...