In:
Clinical Endocrinology, Wiley, Vol. 84, No. 1 ( 2016-01), p. 23-29
Abstract:
As nonclassic congenital adrenal hyperplasia ( NCCAH ) needs to be taken into account in women with hyperandrogenism, we aimed to assess whether the recommended level of poststimulated 17 OHP ≥30 nmol/l confirms NCCAH . Patients and methods Forty, consecutive women with biochemical and/or clinical hyperandrogenism (aged 25·4, 18–38) suspected of having NCCAH were recruited to the study. In patients with 17 OHP level between 5·1 and 29·9 nmol/l an ACTH stimulation test was performed. In patients with basal or poststimulated 17 OHP ≥30 nmol/l, twenty‐four‐hour urinary steroid profile ( USP ) analysis was performed and CYP 21A 2 mutation was assessed. In selected patients with poststimulated 17 OHP 〈 30 nmol/l USP was also performed. Results The group was divided into two subgroups with basal or poststimulated 17 OHP ≥30 nmol/l (group A) and with poststimulated 17 OHP 〈 30 nmol/l (group B). Among 40 patients, basal or poststimulated 17 OHP ≥30 nmol/l was found in 21, but NCCAH was confirmed by USP followed by genetic testing only in 5 (24%). Four patients were diagnosed as heterozygotes, and in twelve, no CYP 21A2 mutation was detected. Conclusion The diagnosis of NCCAH based only on serum 17 OHP measurements (basal or poststimulated) may lead to false‐positive diagnosis when performed by immunoassay with a cut‐off value of ≥30 nmol/l. The definitive diagnosis can be established based on USP and/or genetic testing.
Type of Medium:
Online Resource
ISSN:
0300-0664
,
1365-2265
DOI:
10.1111/cen.2016.84.issue-1
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
2004597-9
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