[Familial glucocorticoid insufficiency (author's transl)].
Familial glucocortivoid insufficiency--also called hereditary lack of response of the adrenals to ACTH-has not yet been described in Europe. Isolated glucocorticoid insufficiency combined with intact secretion of aldosterone and high plasma level of ACTH are characteristic. The diagnostic difficulties are demonstrated by the deaths before diagnosis of 13 siblings of 21 patients from 9 families. One such family is described. The first of 3 children died at the age of 3-1/2 years after a two day illness interpreted as encephalitis. Another boy, aged 4-1/2 years, had a hypoglycemic attack. 3 months later he died in status epilepticus after a short feverish illness. At autopsy the adrenals were very small. Histologically only the glomerulous zone was developed. An the hypophysis there was hyperplasia of the R cells producing ACTH. The 6 year old sister had been pronouncedly pigmented from the age of a few months onwards. Age in terms of height and bone development corresponded to 8-1/2 and 7-1/2 years. After intravenous insulin and synacthen plasmacorticoids could not be found. With normal and low supply of salt, the following data were found: Renin-activity 2.9 and 5.6 ng/ml p.h. respectively; rate of aldosterone secretion 62.6 and 151.5 mug/24 hrs.; average aldosterone plasma concentration 9.39 and 27.7 ng/100 ml respectively; MCR 666 and 5471 p/24 hrs. Plasma ACTH in this patient (5086--7200 pg/ml) and, post mortem, in her brother (8100 pg/ml), were extremely reaised.
D000311:Adrenal Glands / Q000503:physiopathology; D000309:Adrenal Insufficiency / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000450:Aldosterone / Q000378:metabolism; D001344:Autopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D005938:Glucocorticoids / Q000097:blood*; D006801:Humans; D007223:Infant; D008297:Male; D010859:Pigmentation Disorders / Q000209:etiology
D005938:Glucocorticoids; D000450:Aldosterone; D000324:Adrenocorticotropic Hormone
Familiäre Glucocorticoidinsuffizienz