Endocrine Abstracts

Background: Gender-affirming hormone treatment (GAHT) is the cornerstone in the therapeutic management of transgender and gender diverse (TGD) people, which are currently classified as transgender assigned-female-at birth (t-AFAB) and assigned-male-at birth (t-AMAB) subjects. Due to its hormonal nature, GAHT is commonly handled by the endocrinologist and available guidelines on this topic mimic the recommendations for cis-gender hypogonadal populations. However, the GAHT long ...

Heterozygotes carrying CYP21A2 gene mutations are found in 5-10% of the general population in Mediterranean countries. Accumulating data suggest a survival advantage of this population, despite the fact that carriers of two mutations suffer from either classical or non-classical congenital adrenal hyperplasia (NC-CAH), an entity with increased mortality. In an attempt to elaborate on this issue we evaluated females of reproductive age with CYP21A2 heterozygocity (HET). We have...

Purpose: Diagnosis of adrenal lesions requires hormonal investigation and morphological characterization; when CT and MRI imaging are equivocal, 18F-FDG-PET/CT could be a useful tool, although sensitivity and specificity varied among cohorts. The use of tumour-to-liver maximum standardized uptake values (SUVratio) was found to be accurate, but the best threshold value has not been identified yet. A SUVratio > 1.5 was associated with malignancy with a good performance. The ...

Background: Patients with adrenal insufficiency (AI) require long-term glucocorticoid (GC) replacement therapy and generally show an increased prevalence of bone metabolism alterations. Only few data are available on bone safety of dual-release Hydrocortisone (DR-HC) therapy.Objective: To evaluate bone metabolism in both primary AI (PAI) and secondary AI (SAI) during long-term therapy with DR-HC.Methods: We studied patients with AI...

Background: Patients with Cushing’s syndrome (CS) typically show an alteration in the intrinsic coagulation pathway, leading to an increased risk of venous thromboembolism. Cortisol autonomy has been variably associated with higher risk of cardiovascular events and mortality compared to patients with non-functioning adrenal adenomas (NFA), particularly in women younger than 65 years. However, dedicated studies describing coagulation status in patients with adrenal inciden...

Background: Hyperandrogenism in postmenopausal women is extremely rare and requires exclusion of malignancy.Case reports: 1. A 65-year-old woman was referred to our Department of Endocrinology for appearance of hirsutism and alopecia for about 2 years. Abdomen-pelvis CT scan showed a 2-cm lesion (45 HU) at the left adrenal gland, confirmed by MRI scan, without loss of signal intensity in opposed-phase sequences. In addition, in the right ovary, a 3-cm le...

Background: The initiation of puberty is heralded by increasing gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. During embryonic life the GnRH neuroendocrine network develops thanks to a coordinated migration of neurons from the nasal placode to the forebrain. Our group has previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the population and is associated with adverse h...

Adrenocortical cancer (ACC) is a rare aggressive malignancy, with poor prognosis when metastaic at diagnosis. Recent ACC pan-genomics analysis contributed to redefine the risk groups on molecular bases, including tumor micro RNA (miR), which can be detectable not only in the primary lesion but also in the bloodstream.We develop a quantitative real-time assay for the measurement of absolute levels in plasma samples of miR483 and its mature miR483-5p form....

Introduction: Estrogen has positive effects on bone mineral density (BMD), in particular in trabecular bone through inhibition of bone resorption. Testosterone increases bone size, but the effect on BMD is less clear. Cross-sex hormonal treatment (CSHT) in transgender individuals can affect BMD. Therefore, the aim of this study is to investigate effects of CSHT on BMD during the first year of treatment in male-to-female (MtFs) and female-to-male (FtMs) transgender persons....

The potential therapeutic applications of targeting brown adipose tissue open new clinical avenues in fighting against metabolic pathologies. However, due to the limited brown depots in adult humans, dramatically reduced after birth, solid cell models to study human brown adipogenesis and its pathophysiological regulation are urgently needed.In our study, we characterized a novel human model of brown adipose stem cells, hfB-ASC, derived from fetal inters...