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Cited by 244Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

The DOI matches its Crossref record; 40 of the 46 references it cites were found in a registry or an index.

Screening for 21-hydroxylase–deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study

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Azziz, Ricardo, Hincapie, Luis A, Knochenhauer, Eric S, Dewailly, Didier, Fox, Liesl, Boots, Larry R·1999·Fertility and Sterility
DOI 10.1016/s0015-0282(99)00383-0
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Abstract

Objective To prospectively establish the specificity, sensitivity, and positive predictive value (PPV) of a basal 17-hydroxyprogesterone (17-HP) level for the screening of 21-hydroxylase-deficient nonclassic adrenal hyperplasia (NCAH) among hyperandrogenic women.Design Prospective observational trial.Setting Tertiary care academic medical centers.Patient(s) Eight healthy controls, 20 patients with NCAH, and 284 consecutively seen patients with hyperandrogenism.Intervention(s) All controls and patients with NCAH, and select patients with hyperandrogenism, underwent acute ACTH (1-24) stimulation.Main outcome measure(s) Specificity was determined by measuring 17-HP every other day during one menstrual cycle in 8 healthy women with normal ovulation (107 samples). Sensitivity was determined by measuring 17-HP between 7 and 9 A.M. and 3 and 5 P.M. on the same day in 20 patients with genetically confirmed NCAH. The PPV was determined by prospectively measuring 17-HP in 284 consecutively seen hyperandrogenic women at their initial evaluation. The diagnosis of NCAH was established by a stimulated 17-HP level of >10 ng/mL.Result(s) Among controls, 17-HP levels of <2, <3, and <4 ng/mL all had a specificity of 100% when obtained in the follicular phase; when obtained in the luteal phase, they had specificities of 53%, 82%, and 82%, respectively. Among patients with NCAH, 17-HP levels of >2, >3, and >4 ng/mL had sensitivities of 100%, 90%, and 90%, respectively, for the detection of the disorder when obtained in the morning, and sensitivities of 95%, 90%, and 85%, respectively, when obtained in the afternoon. Among the 284 consecutively seen hyperandrogenic women, the PPVs of the first and second 17-HP levels were 7.3% and 19% for a cutoff level of >2 ng/mL, 13% and 43% for a cutoff level of >3 ng/mL, and 33% and 40% for a cutoff level of >4 ng/mL, respectively.Conclusion(s) A basal 17-HP level is a useful screening tool for NCAH. A cutoff level of 4 ng/mL has maximum specificity and PPV, with little loss in sensitivity if testing is performed in the morning and during the follicular phase. However, a lower cutoff level (e.g., 2 or 3 ng/mL) is preferable if testing is performed at odd hours of the day, as is common in many practices, and maximum sensitivity is desired.

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Crossref · 10.1016/s0015-0282(99)00383-0

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Research works printed but not linked: 3

  1. Azziz, 1994, Non-classic adrenal hyperplasia, J Clin Endocrinol Metab, 78, 810
  2. Azziz R. Hirsutism. In: Sciarra JJ, Dilts PV, eds. Gynecology and obstetrics. Vol. 5. Endocrinology, infertility, genetics. Philadelphia: JB Lippincott Co., 1994:1–22.
  3. Carmina, 1987, Prevalence of late-onset 21-hydroxylase deficiency in hirsutism of western Sicily, J Endocrinol Invest, 10, 75

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Metadata

Authors
Azziz, R., Hincapie, L. A., Knochenhauer, E. S., Dewailly, D., Fox, L., & Boots, L. R.
Affiliations
Centre Hospitalier Universitaire de Lille (FR)
Corresponding author
Azziz, Ricardo
ORCID
Venue
Fertility and Sterility
Publisher
Elsevier BV
Published
1999-11
Volume
72
Issue
5
Pages
915-925
ISSN
0015-0282 (ISSN-L)
DOI
10.1016/s0015-0282(99)00383-0
OpenAlex
W2146453639
Cited by
244
References
46
Citations by year
2026: 3 · 2025: 6 · 2024: 5 · 2023: 4 · 2022: 9 · 2021: 8 · 2020: 5 · 2019: 10 · 2018: 7 · 2017: 4 · 2016: 12 · 2015: 18 · 2014: 7 · 2013: 9 · 2012: 6
FWCI
2.07
Type
journal article
Language
en
Open access
Licence
Locations
  • Fertility and Sterility (publishedVersion)
  • PubMed (publishedVersion)
Funders
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD029364, R01-HD29364)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Keywords
21-hydroxylase deficiency, hyperandrogenism, 17-hydroxyprogesterone, screening, diagnostic accuracy, ACTH stimulation test, menstrual cycle phases, luteal phase, positive predictive value, sensitivity and specificity, ovulatory women
MeSH terms
Adrenal Glands, Adrenal Hyperplasia, Congenital, Basal Metabolism, Female, Humans, Mass Screening, Predictive Value of Tests, Prospective Studies, Sensitivity and Specificity, Case-Control Studies, 17-alpha-Hydroxyprogesterone

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