Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.

Classical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia caused by mutations in the type II 3 beta-HSD (HSD3B2) gene. The sequence of the type II 3 beta-HSD gene was determined by direct sequencing of asymmetric PCR products in three male infants suffering from a severe salt-losing form of 3 beta-HSD deficiency and belonging to three families originating from Afghanistan and Pakistan. The three patients were homozygous for the frameshift mutation 273 delta AA resulting from deletion of two adenosines at codon 273, thus leading to a premature termination codon at position 279.

Effects of treatments by calcium and sex hormones on vertebral fracturing in osteoporosis.

Lateral radiographs of the thoracic and lumbar spine were taken periodically in 49 patients with osteoporosis. Thirty patients were postmenopausal, and 19 nonmenopausal with osteoporosis due to steroids, male hypogonadism, alcoholism, thyrotoxicosis or unknown cause. Patients were studied before, during and after treatment with high calcium alone, or with combined calcium and sex steroids.

Langerhans cell histiocytosis of hypothalamus and optic chiasm: CT and MR studies.

The clinical, CT, and magnetic resonance features of two cases of hypothalamic/optic chiasm involvement with Langerhans cell histiocytosis are presented. In both cases, the mass was iso- to hyperdense on noncontrast CT with uniform postcontrast enhancement, whereas with magnetic resonance (one case) the mass remained isointense to brain on both long and short repetition time sequences. The pathophysiology of hypothalamic pituitary dysfunction is briefly reviewed.

Heel pad thickness is an insensitive index of biochemical remission in acromegaly.

The value of serial measurements of heel pad thickness as a clinical predictor of biochemical remission in acromegaly was assessed in 25 patients followed for up to 20 years after treatment by interstitial irradiation using yttrium-90 implantation. Growth hormone (GH) levels fell to 50% of baseline values within 12 months of therapy (P less than 0.001) and to 21% at 5 years, reaching normal levels after 10 years, constituting a biochemical cure maintained to the end of the study period.

An evaluation of the distinction of ectopic and pituitary ACTH dependent Cushing's syndrome by clinical features, biochemical tests and radiological findings.

The efficiency of various laboratory and radiological investigations in the differentiation of ectopic from pituitary dependent Cushing's syndrome was studied, based on findings in 23 patients with verified Cushing's disease and seven patients with the ectopic ACTH syndrome. Clinical features strongly favouring the ectopic type were male sex and history for less than 18 months. Basal biochemical features strongly indicating the ectopic syndrome included plasma K+ less than 3.