Endocrine Abstracts

Background: In recent years, increasing cases of congenital hypothyroidism (CH) with in situ thyroid gland are identified. Outcome of children affected from CH with normally sited thyroid of normal size is still unknown. The objective of our study is to describe the natural history of this specific form of CH. Patients and methods: We retrospectively evaluated clinical, biochemical and instrumental data of 74 patients with diagnosis of CH with in situ thyroid...

Introduction: Congenital hypothyroidism (CH) with in situ thyroid gland (GIS) and non-autoimmune subclinical hypothyroidism (NASI) are functional defects of thyroid gland occurring at birth and after birth, respectively. In recent years, a higher incidence of these disorders has been documented. The etiology remains unclear, with only an almost 50% of cases attributable to mutations in known dyshormonogenesis-associated or TSH-receptor genes. Although replacement ther...

Background: In recent years, increasing cases of congenital hypothyroidism (CH) with in situ thyroid gland (GIS) are identified. Outcome of children affected from CH with normally sited thyroid of normal size is still unknown. The objective of our study is to describe the natural history of this specific form of CH.Methods: We retrospectively evaluated clinical, biochemical and instrumental data of 89 patients with diagnosis of CH and GIS, refer...

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...

TSH receptor (TSHR) is a G-protein-coupled seven-transmembrane domain receptor located in the basolateral membrane of thyroid follicular cells. The activated receptor couples to two major signal transductions pathways: the Gs/adenylate cyclase and the Gq/11/phospholipase C signalling. Many loss of function mutations have been identified in this gene leading to a wide spectrum of thyroid abnormalities, ranging from hyperthyrotropinemia and TSH resistance to severe hypothyroidis...

Introduction: Congenital hypothiroidism (CH) is the most common neonatal endocrine disorder, affecting up to one in 1500 to 2000 newborns, if mild forms of hypothyroidism with eutopic and normal-sized thyroid gland are included. It is caused by either dysgenesis or dyshormonogenesis. Recently a novel iodide transporter, SLC26A7 (a member of the SLC26 transporter family), whose dysfunction affects thyroid hormonogenesis in humans, has been identified. The main purpose of this s...

The insecticide DDT has been shown to inhibit both the basal and the TSH stimulated accumulation of cAMP in CHO stably transfected with the TSHr (CHO-TSHr). Aim of this study was to evaluate whether the DDT has a similar effect on cells transfected with TSHr mutants displaying a high level of constitutive activity. In addition we investigate the effect of DDT on cells transfected with wtFSHr and wtLHr which share a high degree of amino-acid homology sequence with wtTSHr. In co...

Background: The introduction of newborn screening for congenital hypothyroidism (CH) has led to prevent the most serious consequences of precocious deficit of thyroid hormone during child development, particularly neurological disability. However, little is known about long-term physical and psycho-social outcomes of CH after screening introduction.Objective: To evaluate physical and neuropsychological development and Quality of Life (QoL) in adult subje...