[Adrenal enzymatic block with late-onset caused by 11-hydroxylase deficiency. Apropos of 29 cases].
Late-onset congenital adrenal hyperplasia is a cause of a spectrum of clinical manifestations of postnatal androgen excess. In these cases, ACTH stimulation test with measurement of 17-Hydroxyprogesterone (17OHP) is usually done to assess 21-hydroxylase (21-OH) deficiency. Determination of the 11-deoxycortisol (S) and the S to cortisol ratio is rarely done, so that 11 beta-hydroxylase (11-OH) deficiency seems unusual. We systematically investigated this biosynthetic defect among women complaining of hyperandrogenism (n = 519) and, comparing the patient's hormonal responses to ACTH with those of 31 normal women, found 29 11-OH deficiency (5.6%): this is the largest group ever reported. S was elevated only 9 times, so that using this single determination, diagnosis of 20 enzymatic defects would not have been made. Only three of the patients (10%) had hypertension, even though the pathway of aldosterone was involved in 33% of cases (criteria: elevation of the ratio desoxycorticosterone to corticosterone). We also described one new patient with both 11-OH and 3-beta-hydroxysteroid dehydrogenase deficiencies. The patho-physiology is particularly interesting in these cases. It is concluded that the single research for 21-OH deficiency is inadequate among women complaining of hyperandrogenism: the screening for 11-OH deficiency should be made, even if blood pressure is normal.
Reboul
P
P
Service d'endocrinologie, diabétologie, nutrition, Hôpital Notre-Dame de Bon Secours, Paris.
Merceron
R E
RE
Cordray
J P
JP
Guillerd
X
X
Nys
P
P
Rainaut
M
M
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology; D000328:Adult; D000450:Aldosterone / Q000378:metabolism; D000728:Androgens / Q000097:blood*; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000032:analysis; D008875:Middle Aged
D000728:Androgens; D000450:Aldosterone; D015096:3-Hydroxysteroid Dehydrogenases; D006854:Hydrocortisone
Blocs enzymatiques surrénaliens à révélation tardive par déficit de la 11-hydroxylase. A propos de 29 observations.