[Hemochromatosis: the most common of rare diseases].

Familial (hereditary) haemochromatosis (HH) is an iron storage disorder characterized by an increased intestinal absorption of iron and its accumulation in numerous tissues. The disease generates an iron overload with tissue damages also seen in haematologic disturbances (with dyserythropoiesis and haemolysis) and hepatic disorders. Besides typical mutations linked to HH (C282 Y and H63D, HFE locus), three other mutations have been identified and more have to be defined.

Prostatic androgen repressed message-1 (PARM-1) may play a role in prostatic cell immortalisation.

Background: Prostatic androgen-repressed message-1 (PARM-1) has been cloned from the prostate. The transcript of the PARM-1 gene is overexpressed during regression of the prostate after androgen withdrawal. The regulation of PARM-1 by androgens is limited to this organ.

Placental GH, IGF-I, IGF-binding protein-1, and leptin during a glucose challenge test in pregnant women: relation with maternal body weight, glucose tolerance, and birth weight.

The prediction of birth weight may be improved by the measurement of hormones or growth factors in the mother. We measured body weight (BW) and plasma levels of placental GH (PGH), IGF-I, IGF-binding protein-1 (IGFBP-1), and leptin at the time of the glucose challenge test (GCT) in 289 women, who were pregnant with a single fetus, between 24 and 29 wk gestational age (GA). Delivery occurred 12 +/- 2 (mean +/- SD) wk later.

[Clinical case of the month. MELAS syndrome].

A patient, born in 1961, was first examined for autoimmune hyperthyroïd at the age of 25. Then, several episodes of serious dehydration and alteration of general condition were followed by a severe encephalopathy with a symptomatology of stroke-like episodes, and during a hospitalization, a volvulus of the colon. Epilepsy developed also.

[Cushing syndromes due to aberrant expression of functional receptors other than ACTH. A new organic hypercorticism syndrome entity].

The diagnosis of Cushing's syndrome remains a challenge in clinical endocrinology. Cushing's syndromes are usually classified as dependent or independent from ACTH. In the first class are Cushing's disease, the ectopic corticotropin syndrome and the rare ectopic CRH syndrome.