Endocrine Abstracts

Congenital adrenal hyperplasia(CAH) and other disorders of adrenal steroid synthesis compromise synthesis of cortisol and aldosterone. Deficiency of 7-dehydrocholesterol-7-ene-reductase (DHCR7) in the Smith Lemli Opitz syndrome (SLOS) also affects cholesterol synthesis. New-born infants have dysmorphic facial features, microcephaly, second and third toe syndactyly and genital malformations. Later there is mental retardation and problems with cardiac and intestinal function thr...

A girl with family history of a disorder of sex development (DSD) was referred for biochemical investigations and genetic analysis. Parents were consanguineous and a sibling was thought to have partial androgen insensitivity although androgen receptor gene analysis does not fully explain the phenotype. A maternal uncle with perineal hypospadias and a maternal aunt also had the mutation. One sister was normal, one brother had dextrocardia and another brother had mental retardat...

The outcome of parathyroid surgery is often not clear for at least 24 hours after an operation. Frozen section is not always helpful in distinguishing between adenoma and hyperplasia. Minimally invasive surgical techniques are being refined so the need for perioperative assurance about the effects of surgery has increased. PTH assays have been adapted to give results in less than 20 minutes. We have tested the value of intraoperative PTH measurements in 10 surgical cases under...