Endocrine Abstracts

While nonskeletal benefits of vitamin D remain a matter o debate, its importance in bone health is known for decades. Secondary hyperparathyroidism is considered to play a significant role in the pathogenesis of age-related bone loss. In the present study we investigate the association between serum PTH, 25-hydroxyvitamin (25(OH)D) and other clinically related variables in a cross sectional sample of patients followed in an Endocrine consultation during the year 2016. Patients...

Background: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a autosomal recessive disorder with only up to 500 reported cases. It is characterized by generalized absence of fat since birth and severe metabolic derangements such as insulin resistance, hyperglycemia and dyslipidemia. Diabetes mellitus generally develops during the second or third decade of life. This is a rare clinical condition, with worldwide prevalence of 1 in 10 million people and incidence of 1:500.000...

Background: Germline heterozygous mutations in the MEN1 gene located on chromosome 11q13, predisposes to the development of tumors in multiple endocrine tissues. The MEN1 gene encodes a protein of 610 amino acid residues, known as menin which is involved in genome stabilization as well as in several steps of cellular division, conferring tumor suppression activity in MEN1-associated target tissues. The three main endocrine tissues affected by tumors in MEN1 are parathyroid (95...