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.

The effectiveness of external beam radiotherapy for acromegaly is not affected by previous pituitary ablative treatments.

Thirty-three acromegalic patients were treated with radiotherapy and followed up for at least 3 years (mean 6 years, range 3 to 12). Seventeen had not had previous pituitary ablative therapy and 16 had. The mean GH level for these two groups before radiotherapy was comparable at 98 and 119 mIU/l.

Immediate and long-term effects on hormone levels following bites by the Burmese Russell's viper.

Studies of anterior pituitary function were made in victims of a bite by the Burmese Russell's viper, who had required admission to a renal unit. Twenty patients at the stage of the acute illness were studied using a single blood sample for several hormone assays. None showed normal levels of all hormones measured.

Serum testosterone levels in women with Cushing's disease.

Serum testosterone was measured pre- and post-operatively in 31 women who obtained remission of Cushing's disease following treatment by interstitial irradiation of the pituitary gland. The mean serum testosterone was initially elevated at 3.35 nmol/l, with values ranging from 0.

Use of adrenal arterial embolization in severe ACTH-dependent Cushing's syndrome.

The management of a patient with severe Cushing's syndrome due to ectopic ACTH produced by a medullary carcinoma of the thyroid is described. Initial treatment with maximal adrenolytic medical therapy and two attempts at bilateral adrenal venous infarction had failed to control the disease, and she was at that time unfit for surgery. Subsequent use of bilateral adrenal arterial embolization enabled medical therapy to produce sufficient control of the Cushing's syndrome to allow bilateral adrenalectomy to be performed successfully, with resultant cure of the excessive cortisol production.

Burmese Russell's viper venom causes hormone release from rat pituitary cells in vitro.

Acute and chronic hypopituitarism is associated with severe envenoming by the Burmese Russell's viper. We have demonstrated that in vitro, Burmese Russell's viper venom (0.1-10 micrograms/ml) causes a dose-dependent release of GH, TSH and ACTH from dispersed rat anterior pituitary cells in culture.

Assessment of computed tomographic artefact in the pituitary fossa following needle implantation of radioactive rods.

Computed tomographic scans of the pituitary fossa following treatment of pituitary tumours by interstitial irradiation were reviewed for the degree of metallic artefact created by the rods. Among 50 patients treated with 90Y rods alone, none showed artefact to a degree that caused technically unsatisfactory images in coronal or axial cuts. Among the seven patients who had been treated with 198Au, either alone (two patients) or with both 198Au and 90Y rods (five patients), six had severe artefact and in five of these the images were technically unsatisfactory in both coronal and axial slices.

Retinal pigment epithelial change and partial lipodystrophy.

Cuticular drusen and retinal pigment epithelial changes were found incidentally in a 27 year old Lebanese woman during assessment of partial lipodystrophy. Her vision was normal despite involvement of both maculae. The patient had hypocomplementaemia, but serum C3 nephritic factor was absent and renal function was normal.

The role of a highly sensitive amplified enzyme immunoassay for thyrotrophin in the evaluation of thyrotroph function in hypopituitary patients.

Using a highly sensitive amplified enzyme-linked immunoassay (AEIA) for thyrotrophin (TSH), we have assessed the ability of a single basal measurement of TSH to predict the subsequent response of TSH to TRH in a group of 11 patients with known pituitary pathology and some evidence of hypopituitarism. All patients were clinically euthyroid. Basal levels of AEIA-TSH ranged from less than 0.

Inappropriate ACTH concentrations in two patients with functioning adrenocortical carcinoma.

Two female patients with functioning adrenocortical carcinomas had plasma ACTH detectable by RIA at presentation. In both patients there was evidence for biological activity of ACTH. There was no evidence for an ectopic source of ACTH, nor for a pituitary tumour.

Incidentally found small pituitary adenomas may have no effect on fertility.

Histological examination of the pituitary glands from 486 unselected autopsies revealed 97 clinically unsuspected adenomas in 78 glands (16%). Prolactinomas numbered 48; no hormone was found in 30, LH in 8, ACTH in 7, growth hormone (GH) and prolactin in 3, and GH alone in 1. Eleven of 194 female subjects and 37 out of 292 males had one or more prolactinoma.

Effect of nivazol in Nelson's syndrome.

We report the use of nivazol in a patient with Nelson's syndrome. Nivazol was highly effective in reducing ACTH secretion but, contrary to reports of its use in other primates, in our patient nivazol did have systemic glucocorticoid effects.

Long term follow-up of patients with Cushing's disease treated by interstitial irradiation.

The first 86 patients with Cushing's disease treated with interstitial irradiation (by needle implantation) as the sole therapy were reviewed. In the 82 patients who were reassessed 1 yr after treatment 63 (77%) achieved remission. This study comprises the outcome and complications in the 54 patients who had a remission and whom we were able to follow.

Long-term effect of 90Y pituitary implantation in acromegaly.

This report examines the long-term trends in GH levels and pituitary function in a group of 38 acromegalic patients who were selected insofar as we were able to follow them up for more than 10 years after a single dose of 90Y interstitial pituitary irradiation as the sole treatment. Mean serum GH had fallen from 106 to 24 mIU/l within 3-6 months and then slowly declined to 4 mIU/l after 10 years. GH levels of less than or equal to 5 mIU/l during a 50 g oral glucose tolerance test were obtained in 8% of patients at 3-6 months and in 18% at 1 year, the cumulative percentage increasing to 53% at 10, and 76% at 14 years.

Long-term follow-up of patients who underwent yttrium-90 pituitary implantation for treatment of proliferative diabetic retinopathy.

Between 1960 and 1976 117 patients underwent pituitary implantation with yttrium-90 (90Y) for treatment of proliferative retinopathy at the Hammersmith Hospital, London. Mean age at operation was 35 +/- 11 years (mean +/- SD), and mean duration of diabetes 18.6 +/- 10.

Direct assay for testosterone in saliva: relationship with a direct serum free testosterone assay.

A direct non-extraction radioimmunoassay for salivary testosterone is described using a modified commercial kit procedure that is in use for total serum testosterone (T). Serum free testosterone was also measured by direct radioimmunoassay. A significant correlation (r = 0.