Endocrine Abstracts

Purpose: Osteopathy/osteoporosis in Gaucher disease type 1 (GD1) shows variable responses to enzyme replacement therapy (ERT); the pathogenesis is incompletely understood. We aimed to investigate the effect of several gene variants on bone mineral density (BMD) and serum markers of bone metabolism in GD1.Patients/methods: 50 adult Caucasian patients with GD1/117 controls were genotyped for gene variants in the osteoprotegerin (TNFRSF11B; OPG), estrogen r...

Background: Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. We aimed to characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis.Design: Cross-sectional comparative.Patients and methods: Of 27 Caucasian patients with classic 21HD (4–31 years); 27 sex-, age- and BMI-matched controls. Cli...

Autoimmune Polyglandular Syndrome Type I (APS 1) is a rare monogenic disease, in which simultaneous or sequential dysfunctions of endocrine or nonendocrine glands appear. A 19-year-old woman was admitted for inappetence, nausea, vomiting, abdominal pain, chronic constipation, generalized paresthesia and vertigo. She was known with primary hypoparathyroidism (from the age of 5), chronic autoimmune thyroiditis, mucocutaneous candidiasis, under treatment with calcitriol, calcium,...