Endocrine Abstracts

Background: The H-syndrome is a recently described very rare monogenic systemic autoinflammatory autosomal-recessive genodermatosis with young onset of diabetes without evidence of autoimmunity. It is caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.Objectives: To study the clinical features and confirm the genetic diagnosis in a subject with young onset of diabetes.Subject and m...

Background: Familial partial lipodystrophy type 2 (FPLD2) is an autosomal dominant inherited form of lipodystrophy due to mutation in the LMNA gene on chromosome 1q22. It is characterized by selective loss of subcutaneous adipose tissue from the limbs and trunk, with accumulation of fat in the neck and face, insulin resistance, diabetes mellitus and dyslipidemia.Objective: To study the clinical features and establish the molecular diagnosis of two subjec...

Aims: To study changes in bone mineral density (BMD), bone mineral parameters, metabolic profile, body composition and quality of life at base line and 6 months following parathyroidectomy, in subjects with primary hyperparathyroidism (PHPT).Material and methods: This prospective study was conducted over 18 months with first 12 months of recruitment and next 6 months for follow-up. Sixty-eight patients with PHPT who underwent surgery were compared with 1...