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The diagnosis of nonclassic congenital adrenal hyperplasia due to 21‐hydroxylase deficiency, based on serum basal or post‐ ACTH stimulation 17‐hydroxyprogesterone, can lead to false‐positive diagnosis
Author(s) -
Ambroziak Urszula,
KępczyńskaNyk Anna,
Kuryłowicz Alina,
Małunowicz Ewa Maria,
Wójcicka Anna,
Miśkiewicz Piotr,
Macech Magdalena
Publication year - 2016
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12935
Subject(s) - congenital adrenal hyperplasia , hyperandrogenism , basal (medicine) , medicine , acth stimulation test , 21 hydroxylase , endocrinology , stimulation , urinary system , adrenocorticotropic hormone , hormone , insulin , insulin resistance , polycystic ovary
Summary Objective 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.