Endocrine Abstracts

Despite recent enormous advances in the understanding of the molecular mechanisms of sex development, the medical decisions made in patients with disorders of sex development (DSD) are mostly lacking evidence-based principles and are carried on case by case evaluations. Very critical discussions have focused on approaches on gender assignment and treatment of DSD. Any decision should be based on a correct diagnosis and possible prediction of development during puberty and adul...

EuroDSD is an acronym for a collaborative project of clinical and basic scientists working in the field of disorders of sex development (DSD). Research in DSD is desperately needed to provide a basis for diagnostic pathways, medical decision making, and distinct treatment advice. EuroDSD is currently supported by the European Commission under the 7th European Framework Programme (FP7) and receives funding from May 2008 until April 2011 within the topic of the natural course an...

Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation, formerly termed ‘intersexuality’. This includes chromosomal as well as monogenic disorders, which inhibit or change primarily genetic or endocrine pathways of normal sex development. However, in most patients affected, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represen...

The European Reference Network on Rare Endocrine Conditions (Endo-ERN) was founded to improve access to high-quality health care across Europe for patients with rare hormonal disorders. It is meant to encompass all rare endocrine conditions with an equal distribution of paediatric and adult care. The Main Thematic Group (MTG) ‘Sex Development and Maturation’ is dedicated to the medical conditions involving the reproductive system in both sexes, including the broad ra...

Objective: Self-reported volume of patients and specific interventions is a specific network criterion that needs to be fulfilled by reference centres that are eligible for inclusion within Endo-ERN. The aim of the present study is to evaluate how self-reported volume data in the original applications were obtained, which data are retrievable, and which set is best suitable to use for future centre evaluations. This overview is provided for two Main Thematic Groups (MTGs) of E...

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: 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: Disorders caused by impairments in the parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro as...

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...