Endocrine Abstracts

Recently updated international guidelines recommend specialist surveillance of adults with Turner Syndrome (TS). In 2005, we established a dedicated TS clinic, attracting referrals from our general endocrine service and other specialities including primary care.Twenty-three patients currently attend of whom 9 were previously under endocrinology review. Karyotypes include 45XO (8/23), 45XO/46XrX (4/23), and 45XO/46XiXq (3/23). Mean (±S.D.</sma...

No guidelines exist for the management of Congenital Adrenal Hyperplasia (CAH) in adults. With no ideal glucocorticoid regimen to replicate normal physiology, best practice remains unclear. Concerns have been raised regarding overtreatment, particularly with longer acting steroids, and potential adverse effects on body composition and bone mineral density (BMD).We examined the case records of all 35 patients currently under review in our unit. Mean±...

In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency a genotype-phenotype correlation exists for paediatric cohorts, helping to predict the severity of disease expression. Data on the correlation in adults is lacking. Here we report the genetic analysis of the UK CaHASE cohort, comprising CAH adults seen at 17 endocrine tertiary care centres. CYP21A2 mutation analysis was performed in 153 patients (median age 35 (range 18–69) yrs; 103 f, 50 m) by multi...