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

Clinical Endocrinology
Urszula AmbroziakMagdalena Macech

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 17OHP ≥30 nmol/l confirms NCCAH. 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 17OHP level between 5·1 and 29·9 nmol/l an ACTH stimulation test was performed. In patients with basal or poststimulated 17OHP ≥30 nmol/l, twenty-four-hour urinary steroid profile (USP) analysis was performed and CYP21A2 mutation was assessed. In selected patients with poststimulated 17OHP <30 nmol/l USP was also performed. The group was divided into two subgroups with basal or poststimulated 17OHP ≥30 nmol/l (group A) and with poststimulated 17OHP <30 nmol/l (group B). Among 40 patients, basal or poststimulated 17OHP ≥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 CYP21A2 mutation was detected. The diagnosis of NCCAH based only on serum 17OHP measurements (basal or poststimulated) may lead to false-positive diagnosis when performed b...Continue Reading

References

Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Apr 1, 1994·The Journal of Clinical Endocrinology and Metabolism·R AzzizD Owerbach
Apr 1, 1993·The Journal of Steroid Biochemistry and Molecular Biology·C H Shackleton
Dec 20, 2000·American Journal of Obstetrics and Gynecology·C MoranS F Witchel
Feb 12, 2002·The Journal of Clinical Endocrinology and Metabolism·Tânia A S S BachegaBerenice B Mendonca
Nov 13, 2002·Seminars in Reproductive Medicine·Didier Dewailly
Feb 28, 2003·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·D TörökJ Sólyom
Nov 1, 1961·The Journal of Clinical Endocrinology and Metabolism·D FERRIMAN, J D GALLWEY
Dec 23, 2003·Human Reproduction·UNKNOWN Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group
Apr 28, 2004·Molecular Genetics and Metabolism·Xuemei ZengCheryl A Telmer
Jun 8, 2004·The Journal of Clinical Endocrinology and Metabolism·Ricardo AzzizBulent O Yildiz
Feb 25, 2005·The Journal of Clinical Endocrinology and Metabolism·E CarminaR A Lobo
Mar 25, 2005·The New England Journal of Medicine·David A Ehrmann
Jun 15, 2006·Best Practice & Research. Clinical Endocrinology & Metabolism·Bulent O Yildiz
Nov 15, 2007·The Journal of Clinical Endocrinology and Metabolism·Héctor F Escobar-MorrealeJosé L San Millán
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Sep 9, 2010·The Journal of Clinical Endocrinology and Metabolism·Phyllis W SpeiserUNKNOWN Endocrine Society
Oct 12, 2012·PloS One·Yongwook ChoiAgnes P Chan
Jan 30, 2013·Proceedings of the National Academy of Sciences of the United States of America·Maria I NewTony Yuen
May 21, 2014·Annals of Clinical Biochemistry·Simon J SalterAnnie E Armston

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Citations

Jan 2, 2016·Journal of Tropical Pediatrics·Thomas HoehnSaysanasongkham Bounnack
Mar 10, 2018·The Journal of Clinical Endocrinology and Metabolism·Kathryn A MartinRobert L Rosenfield
Oct 20, 2018·Clinical Endocrinology·Harshal DeshmukhThozhukat Sathyapalan
Jul 4, 2020·European Journal of Human Genetics : EJHG·Sabina Baumgartner-ParzerWolfgang Hoeppner
Aug 11, 2020·Biochemia Medica·Željko DebeljakVatroslav Šerić
Jun 28, 2019·Frontiers in Endocrinology·Sarantis Livadas, Christina Bothou
Apr 1, 2021·Endocrine Reviews·Robert L Rosenfield
Sep 22, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Stanley AndrisseSheng Wu

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