A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.

Context: Mutations of the FSHbeta gene, causing in women isolated FSH deficiency and hypogonadism, are very rare and only a few have been described.

Objective: To describe the phenotype and response to recombinant human (rh) FSH of a female patient with a novel homozygous loss-of-function mutation of FSHbeta, and to characterize in vitro the molecular mechanisms responsible for the FSH inactivation.

Patient: A 29-year-old woman with primary amenorrhea and impaired pubertal development associated with isolated FSH deficiency.

Impairment of the antioxidant properties of serum albumin in patients with diabetes: protective effects of metformin.

Free radical production is increased during diabetes. Serum albumin is a major antioxidant agent, and structural modification of albumin induced by glucose or free radicals impairs its antioxidant properties. Therefore the aim of the present study was to compare the antioxidant capacities and structural changes in albumin in patients with T2DM (Type 2 diabetes mellitus) treated with MET (metformin) or SU (sulfonylureas) and in healthy control subjects.