The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.

Background: The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene. Clinical presentation encompasses virilization of external genitalia in newborn females and pseudoprecocious puberty in both sexes, due to reactive androgen overproduction. The aim of this study was to present two sisters with an SV form of CAH and distinctive genotype, detected and treated since childhood with a poor compliance and poor metabolic control hindering the fertility.

Is there a difference in pregnancy and glycemic outcome in patients with type 1 diabetes on insulin pump with constant or intermittent glucose monitoring? A pilot study.

Background: The aim of the study is to describe glycemic and insulin outcomes by trimester and maternal and fetal outcome in patients with type 1 diabetes using an insulin pump with constant or intermittent continuous glucose monitoring (CGM).

Methods: Twenty-five women with type 1 diabetes with newly diagnosed pregnancy were treated with insulin pump therapy (Medtronic 722, Medtronic Minimed, Northridge, CA) for at least 1 year. Insulin pump and CGM (Medtronic Paradigm Real-Time) were implemented at least 3 months before conception.