Endocrine Abstracts

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...

Context: Premature ovarian insufficiency (POI) affects approximately 1-3% of women. Clinical presentations are heterogeneous and the underlying etiologies remain unknown in the majority of cases.Objective/aim: To characterize presentations of POI and to evaluate the distribution of underlying etiologies in women with newly diagnosed POI of unknown cause.Design: Prospective study of 100 women with newly diagnosed POI. Autoimmunity w...

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...

Background: Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) present with a range of clinical features due to copy number aberrations of the X chromosome. The underlying genetics of these syndromes have revealed karyotype-dependent transcription and methylation patterns, and implicated genes that escape X chromosome inactivation (XCI). Alterations in the expression pattern of non-coding RNAs has previously been reported in TS and KS, yet the landscape of circul...

Introduction: Luteinizing hormone (LH) and human choriogonadotropin (hCG) regulate reproduction through binding the same receptor (LHCGR). They act via activation of G protein- and β-arrestin-dependent signals, resulting in ligand-specific pattern of signaling cascades and LHCGR internalization into endosomal vesicles. Previous studies differentiated the action of these two hormones in LH-related proliferative signals and hCG-related steroidogenic signals.Aim. We compared...

Introduction: According to the DSM-5, gender dysphoria (GD) is defined as a distress that results from an incongruence between one’s sex assigned at birth and one’s gender identity. This condition may require gender-affirming hormone therapy (GAHT), in order to reduce distress. GAHT, however, is not free from side effects and it could increase the risk of onset of new pathological conditions.Aim of the study: To evaluate cardiovascular comorbid...