[Clinical aspects of Marfan syndrome].

Marfan syndrome (MFS) and MFS-related diseases are inherited connective tissue disorders involving several organ systems. The diagnosis of MFS is difficult as the many symptoms overlap with those of other systemic connective tissue diseases. The phenotype is progressive.

[Molecular biological aspects of Marfan syndromes].

Marfan syndrome (MFS) is a hereditary connective tissue disorder. Studies of MFS have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-β signalling. It is now known that the disease is caused by altered regulation of TGF-β.

Thyrotropin-releasing hormone stimulation test in patients with pituitary pathology.

Objectives: To evaluate the value of the thyrotropin-releasing hormone (TRH) stimulation test in the diagnostic work-up of the thyroid function in patients with pituitary pathology.

Methods: To compare the thyrotropin (TSH) response and the absolute and fold changes after TRH administration in 35 patients with pituitary pathology and 26 normal subjects.

Results: Nine of the patients and 2 of the normal subjects had a pathological response.

Circulating leptin and thyroid dysfunction.

The identification and sequencing of the ob gene and its product, leptin, in 1994 opened new insights in the study of the mechanisms controlling body weight and led to a surge of research activity. Since its discovery, leptin has been the subject of an enormous amount of work especially within the fields of nutrition, metabolism and endocrinology. Leptin is accepted as an adipose signal, and even though the underlying mechanisms are not fully clarified, leptin, in addition to the thyroid hormones, is believed to be involved in regulation during the switch from the fed to the starved state.

Ultrasonically measured horizontal eye muscle thickness in thyroid associated orbitopathy: cross-sectional and longitudinal aspects in a Danish series.

Purpose: To analyse horizontal extraocular muscle findings by ultrasound and exophthalmometry in a tertiary endocrinology centre series of patients with thyroid associated orbitopathy (TAO).

Methods: The 90 thyroid patients included underwent ultrasonic measurement of horizontal eye muscle thickness by a B-scan based technique carried out in addition to their general ophthalmic evaluation. As an indicator of mainly advanced TAO, longterm prednisone or cyclosporine A was given to many of the patients, and drug-resistant visual loss indicated decompression surgery in four of the 90 patients.