Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population

To evaluate whether HLA-B14 positive individuals are at increased risk for non-classic 21-hydroxylase deficiency, the response of progesterone and 17-hydroxyprogesterone to ACTH stimulation test was studied in a group of 27 apparently normal, HLA-B14 positive, blood donors. Four of these subjects showed a response typical of 21-hydroxylase defect. In the present series, the enzymatic defect was found to have a considerably lower prevalence than in a previous study of smaller size (15% vs 66%); however, considering the low frequency of the gene coding for the defect in the general population (0.015-0.057), the present results confirm an increased risk for non-classic 21-hydroxylase deficiency in HLA-B14 positive individuals. Therefore, in these subjects, a screening for 21-hydroxylase deficiency may be indicated.     

A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation

Two brothers referred for hypogonadism presented with short stature, mild mental retardation, and minor anomalies. In addition, both patients had hypogonadism due to primary gonadal failure and mitral valve prolapse, in the absence of other heart defects. A complete hormonal evaluation in one of the patients showed abnormal growth hormone (GH) and gonadotropin responses to different stimuli, findings suggestive of a disorder of hypothalamic-pituitary regulation. Both patients had normal chromosomes (46,XY) as did their mother (46,XX), who had some of the clinical manifestations found in her sons but in a milder form. We propose that this is a new syndrome.     

Effect of somatostatin on blood glucose, plasma growth hormone, insulin, and free fatty acids in normal subjects and acromegalic patients

Synthetic growth-hormone-release inhibitory hormone (GRIH, somatostatin) infused in seven acromegalics significantly lowered plasma growth hormone (GH) and immunoreactive insulin (IRI) levels, did not have any effect on blood glucose, and significantly increased plasma free fatty acids (FFA). Somatostatin, when infused in three normal subjects during an arginine test, inhibited plasma GH and IRI responses. Hypoglycemia-induced GH release was also blocked by somatostatin in two normal subjects thus tested.     

Treatment of benign nodular goitre with mildly suppressive doses of L-thyroxine: effects on bone mineral density and on nodule size

OBJECTIVES: To evaluate (i) the demineralizing effect of L-thyroxine (LT4) therapy at doses mildly inhibiting serum thyroid stimulating hormone (TSH) in patients with benign nodular goitre; (ii) the efficacy of treatment on nodule size. DESIGN: Cross-sectional study comparing euthyroid women with nodular goitre treated with LT4 for > or = 2 years (52 +/- 32 months, range 24-138, median 42) and a matched group with untreated goitre. SUBJECTS: A total of 89 female outpatients (53.3 +/- 9 years; 36 pre- and 53 postmenopausal), 43 treated and 46 untreated. MAIN OUTCOME MEASURES: Bone mineralization was measured with total body and regional mineralometry [dual energy X-ray absorptiometry (DEXA)], and indirectly evaluated with biochemical parameters (alkaline phosphatase, osteocalcin). Efficacy of LT4 therapy was assessed by measuring the nodule size during ultrasonography. The adequacy of the treatment was evaluated on the basis of serum TSH levels. RESULTS: No significant differences were found at DEXA for total body and regional mineralization (P > 0.05 for all comparisons) in treated and untreated patients, both in pre- and postmenopausal states. Evaluation of the nodule size during the ultrasound scan showed a reduction of > or = 30% in 11 of 43 treated patients (26%) versus none of the untreated, an unchanged size in 29 treated patients (67%) versus 18 untreated, an increase of nodules and/or new nodule development in three treated patients (7%) versus 28 untreated (61%). CONCLUSIONS: L-thyroxine (LT4) treatment at doses slightly suppressing TSH does not significantly affect bone mineralization, nor does it represent a risk factor for osteoporosis, even in postmenopausal patients. The efficacy of this therapeutic schedule on goitre size is comparable with the effects previously reported with suppressive doses.