Endocrine Abstracts

Context: Childhood gender dysphoria, when not attenuating after the onset of puberty, is very likely to persist. The aim of puberty suppressing therapy in gender dysphoric adolescents is increasingly shifting from ‘buying time to reflect on the diagnosis’ towards ‘avoiding the development of secondary sexual characteristics while awaiting eligibility for cross-sex hormones’. Various treatment regimens are available to suppress or decrease the effects of end...

Men and women who have AIS face a number of challenges. Based on research insights from the past two decades, management of this pleiotropic condition during childhood has totally changed. In this presentation, we will update endocrinologists who provide care for adults living with AIS about these changes, as they will, after transition, need to further counsel their patients and coordinate multidisciplinary care and surveillance of retained gonads in adulthood. Girls with com...

Background and aims: Little is known about the long-term psychosocial effect of tallness and its treatment in male adolescents.1 Therefore, psychosocial outcome, including adult coping with tall stature were investigated in young adult men, who had consulted for tall stature during adolescence.Methods: All adult men (age >18 years) who had been referred for tall stature or rapid growth during adolescence (ages 11 to 16 years) between 2010 ...

Background: Sex steroids are critical for skeletal development and maturation during puberty as well as skeletal maintenance during adult life. However, the exact time during puberty when sex steroids have the highest impact as well as the ability of bone to recover from transient sex steroid deficiency is unclear. The latter is highly relevant in the clinical context of delayed puberty, since the impact of a delayed pubertal onset on adult bone health remains elusive. Surgica...

Background: Only few cases of patients with adrenal disorders affected by coronavirus disease 2019 (COVID-19) have been reported so far. In this study, clinical outcome data of patients with adrenal disorders and COVID-19 infection has been collected by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project.Methods: This questionnaire included 32 questions on collecting quantitative and qua...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2019 and December 2021.<p class...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hydroxylase CAH and to assess the pre...

Background: EuRRECa (eurreca.net) is a web-based project that supports professional networks such as European Reference Networks (ERNs) in capturing standardised clinical information. The project includes an e-reporting registry (e-REC), which can be used to perform regular surveillance of specific events. Since 2018, e-REC has been used by the ERN for rare endocrine conditions (Endo-ERN) to understand the number of new clinical encounters at centres within this network.<p...

Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...