[Selective ACTH deficiency in two siblings (author's transl)].
In a previous report (Dtsch. med. Wschr. 97 [1972], 1943) the case of a 5-year-old boy had been described who, at autopsy, was found to have severe adrenocortical hypoplasia and absence of ACTH-producing R-cells of the anterior pituitary. On examining other members of his family, his 3 1/2-year old brother was found to have selective ACTH deficiency with secondary adrenocortical insufficiency. This is the first published report of two siblings with selective ACTH deficiency, presumably on a hereditary basis.
D000305:Adrenal Cortex Hormones / Q000097:blood; D000309:Adrenal Insufficiency / Q000097:blood / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008797:Metyrapone
D000305:Adrenal Cortex Hormones; D000324:Adrenocorticotropic Hormone; D008797:Metyrapone
Selektiver ACTH-Mangel bei zwei Geschwistern