Endocrine Abstracts

Thyroid hormones stimulates bone turnover. Increased blood levels of thyroid hormones are associated with a negative balance at individual bone remodeling unit and bone loss. It is well know that hyperthyroidism is a common cause of secondary osteoporosis and increased risk of fragility fractures. Mild hyperthyroidism (suppressed TSH and normal free thyroid hormones), as observed in autonomous thyroid nodules or following administration of TSH-suppressive doses of thyroid horm...

Normocalcemic primary hyperparathyroidism (NC-PHPT) is a condition characterized by normal albumin-adjusted total serum calcium or ionized calcium and persistently elevated serum PTH. Therefore, to recognize this entity it is necessary to measure PTH in normocalcemic individuals. The question arises why would someone measure PTH in a normocalcemic subject? A pro-active approach to women evaluated in their early postmenopausal years for parameters of skeletal health as well as ...

Graves’ ophthalmopathy (GO) in the majority of cases is modest and self-limiting and no treatment is required beside local measures and prompt control of thyroid dysfunction. A minority of patients (3–5%) have severe GO which warrants aggressive treatment to arrest further progression and eventually achieve regression of existing ocular signs and symptoms. Treatment of severe GO is a complex therapeutic challenge and available treatments provide unsatisfactory result...

Pseudohypoparathyroidism type 1 A (PHP-1A) is a rare genetic disorder characterized by hypocalcemia, hyperphosfatemia, multi hormones resistance (PTH, TSH, Calcitonin, GH) associated with Albright hereditary osteodystrophy (AHO) features. The disease is caused by GNAS haploinsufficiency due to inherited inactivating mutation of GNAS-gene that codes for the stimulatory alfa subunit of G protein. A positive genotype-phenotype correlation was recently hypothesized. The purpose of...

Context: Vitamin D deficiency following malabsorptive bariatric surgery can lead to osteomalacia. We report a patient with severe vitamin D deficiency following malabsorptive bariatric surgery successfully treated with calcifediol but not cholecalciferol.Case description: A 40-year-old woman, submitted to biliopancreatic diversion 20 years before and chronically treated with 50 000 IU cholecalciferol weekly, was admitted to our Endocrine Unit because of ...

Pseudohypoparathyroidism (PHP) refers to a group of heterogeneous genetic diseases, characterized by resistance to PTH and frequently other hormones activating cAMP-dependent events down-stream of different G protein-coupled receptors. PHP-Ia and Ib, the most frequent forms, are caused by mutations within the GNAS locus that encodes Gαs and several splice variants thereof. We describe a 36-year-old man with sporadic PHP-Ib with renal PTH-resistance, yet severe hyperparath...

A 38-year-old woman with chronic autoimmune thyroiditis and hypothyroidism treated with levothyroxine (125 μg/day) was referred to our outpatient clinic with a history of sudden increase of goiter, weakness, dysphagia, dyspnea and suffocating sensation. Physical examination showed an enlarged, stony thyroid gland (three times of normal), without palpable cervical lymph nodes. Biochemical evaluation showed the following abnormalities: TSH 6.0 μU/ml (0.4–4.3), fre...

X-linked hypophosphatemia (XLH), representing about 80% of hypophosphatemic rickets, is an X-linked dominant disease due to inactivating mutations in the PHEX gene (located at Xp22.1) resulting in an excessive secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23). The effects are renal phosphate wasting and reduced active vitamin D synthesis leading to rickets, osteomalacia, bone deformities, odontomalacia, frequent dental abscesses and disproporti...

Hypoparathyroidism (HypoPT) is the only hormone deficiency syndrome whose standard treatment is not based on the replacement of the missing hormone. Although most cases of postsurgical HypoPT can be effectively managed with the conventional use of oral calcium and active vitamin D (SOC therapy), some patients require very high doses and develop complications such as hypercalciuria, renal stones, nephrocalcinosis and ectopic calcifications. In the last few years, recombinant hu...

Objectives: A sporadic association between thyroid and non-organ-specific autoimmunity has been reported, which could be relevant for Graves’ orbitopathy (GO), an autoimmune disease affecting orbital connective tissue. We investigated whether there is an association between GO and anti-nuclear antibodies (ANAs).Methods: We performed a cross-sectional investigation in 265 consecutive patients with Graves’ disease (GD) who came to our observation...