Initial clinical manifestations in a young male with -variant-associated diabetes.

To date, heterozygous loss-of-function variants of have been identified in 13 families with diabetes. Here, we present initial clinical information regarding a young male with diabetes who carried a heterozygous nonsense variant of (p.Arg377Ter) previously reported in his family with diabetes.

A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy.

Patients with diffuse congenital hyperinsulinism (CHI) refractory to drug therapy require subtotal or near-total pancreatectomy. Although almost all patients develop diabetes postoperatively, the clinical course and timing of insulin therapy remain unclear. A 7-yr-old girl presented with recurrent hypoglycemia shortly after birth and a relatively elevated insulin level, which confirmed the diagnosis of CHI.

Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees.

Objectives: The role of serum fibroblast growth factor 23 (FGF23) level in early neonatal period on the diagnosis of X-linked hypophosphatemic rickets (XLH) remains unclear.

Case Presentation: Two female patients from the first pedigree had an affected mother, and the other female from the second pedigree had an affected father. In all three cases, FGF23 levels were high in cord blood and peripheral blood at day 4-5.

A novel C-terminal truncating mutation in dizygotic twins.

Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development.

Epidemiology of primary biliary cirrhosis among women with elevated gamma-glutamyl transpeptidase levels in Okinawa, Japan.

We investigated the conditions among women who had an asymptomatic increase in serum gamma-glutamyl transpeptidase (gamma-GTP) levels, and the prevalence of primary biliary cirrhosis (PBC), in the general population. Among 4048 women who received their annual health check-up, 241 showed an elevated gamma-GTP level and were invited to participate in this study. Of the 241 women, 122 participated and were examined thoroughly, including for antimitochondrial antibody (AMA) and by using liver biopsy to make a clinical diagnosis.