Endocrine Abstracts

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labelled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which is usually associa...

Turner syndrome (TS), one of the most frequent chromosomal aberrations in females, is characterized not only by structural abnormalities (somatic and congenital) but also by acquired comorbidities, such as metabolic disorders, cardiovascular alterations, autoimmune diseases, osteoporosis, and malignancies. The prevalence of structural abnormalities that usually complicate TS at diagnosis is well known. However, the prevalence of acquired complications, that may appear at any a...

Background: Premature ovarian insufficiency (POI) is an ovarian defect characterized from primary or secondaryamenorrhea, high levels of FSH (> 25 UI/l) and low levels of estrogen, which occurs before age 40.Objective: The aim of the study was to evaluate the clinical features and genetic causes of a group of 68 patients with POI.Methods: We performed anamnestic and clinical evaluation, hormonal and autoimmunity assessment, pel...

Background: RhGH treatment in adults with childhood onset growth hormone deficiency (COGHD) affect bone metabolism over time according to gender and age. A long-term study of bone mass density (BMD) in young-middle age hypopituitary patients with COGHD may better highlight possible benefits of therapy and improve clinical follow up.Methods: We enrolled 40 adults (age range during follow-up: 16.8–36 years, F: 38%) with COGHD with at least 20 years o...

Introduction: Recent studies report the presence of KLK3 in women serum, KLK3 is excreted by Skene glands, it is involved in the production of cervical-vaginal fluid (CVF). Activation of KLK3 is pH depending, it has been hypothesized to have antimicrobial, immuno-regulator activity and vaginal and cervical epithelial desquamation. We intend to verify if KLK3 is present in female serum, in which menstrual cycle phases KLK3 ...

Introduction: Recent studies report the presence of KLK3 in women serum, KLK3 is excreted by Skene glands, it is involved in the production of cervical-vaginal fluid (CVF). Activation of KLK3 is pH depending, it has been hypothesized to have antimicrobial, immuno-regulator activity and vaginal and cervical epithelial desquamation. We intend to verify if KLK3 is present in female serum, in which menstrual cycle phases KLK3 ...

Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, skeletal muscle and deep connective tissues. Initially HO occurs during infancy as osteoma cutis, then extends progressively into deep connective tissues during childhood. Most cases of POH are caused by paternally inherited mutations of GNAS gene. Maternal mutations as well as epigentic defec...

Objective: Adrenocortical carcinoma (ACC) is a rare malignancy, whose prognosis is mainly dependent on the stage at diagnosis. The identification of disease-associated markers representing solid biomarkers for early diagnosis and drug monitoring is mandatory to improve survival rate and life quality of patients. CTC are tumor cells originating from primary tumor or metastases. The tumor-induced angiogenesis and invasion allow aggressive tumors to release CTC into blood stream ...

Prostate cancer (PCa) is one of the leading causes of tumor death in Western countries. Modifications in expression and functional alterations that involve the androgen receptor (AR) have been implicated in the progression of PCa and in the development of androgen independence; however, the role of AR in these processes is still debated, as contrasting results have been reported in several studies evaluating the relation between AR expression and disease progression (Tamburrin...

Iron represents a micronutrient for cellular metabolism and aerobic respiration, and is essential for proper brain development in the fetal and early neonatal period. However, excess iron produces toxic build-up via free radical formation. In thalassaemic and juvenile hemochromatosis patients with pubertal failure, iron overload interferes with the correct function of the hypothalamic–pituitary axis, leading to hypogonadotrophic hypogonadism and growth failure, but the me...