A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD.

Context: Primary generalized glucocorticoid resistance is a rare genetic condition characterized by partial end-organ insensitivity to glucocorticoids. Most affected subjects present with clinical manifestations of mineralocorticoid and androgen excess. The condition has been associated with inactivating mutations in the human glucocorticoid receptor (hGR) gene, which impair the molecular mechanisms of hGRα action, thereby reducing tissue sensitivity to glucocorticoids.

Family management of insulin-dependent diabetes mellitus: a practical problem-solving approach.

Insulin-dependent diabetes mellitus (IDDM) as a chronic and potentially life-threatening condition, may have a devastating acute and long-term effect on the patient and his or her family. IDMM's management should include the following components: (a) establishment of a co-operative relationship amongst the patient, his or her family and the members of the diabetes team, (b) emphasis on the promotion of problem-solving strategies, (c) sufficient emotional and psychological support and proper education and training concerning diabetic control, provided not only to the patient but to all the family members involved in his or her care. The treatment regimen, as well as the above mentioned components of IDMM management should be tailored to the individual's specific needs, developmental stage and a level of adjustment.

Neonatal screening for hypothyroidism in Greece.

One year's experience in screening for congenital hypothyroidism in Greece is reported. Thyroid stimulating hormone (TSH) determination by a radioimmunoassay on dried blood spots was selected as the screening method. During the first year of screening 75,879 newborn infants were tested from Guthrie blood spots taken on the 5th day of life.