The phenotype of hirsute women: a comparison of polycystic ovary syndrome and 21-hydroxylase-deficient nonclassic adrenal hyperplasia
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Objective To test the hypothesis that women with polycystic ovary syndrome (PCOS) are distinguishable from those with 21-hydroxylase-deficient nonclassic adrenal hyperplasia on the basis of having polycystic ovaries and metabolic dysfunction. Design Prospective observational. Setting Tertiary care center. Patient(s) Fifty-two lean and 54 obese women with PCOS according to the 1990 National Institutes of Health criteria, 23 women with nonclassic adrenal hyperplasia, and 27 controls. Intervention(s) History and physical examination, blood sampling, ovarian sonography, oral glucose tolerance, and acute adrenocorticotropin stimulation testing. Main outcome measure(s) The frequency of clinical, biochemical, and metabolic features. Result(s) Women with PCOS had a higher frequency of oligomenorrhea or amenorrhea than those with nonclassic adrenal hyperplasia. Mean androstenedione and DHEAS levels were highest in nonclassic adrenal hyperplasia. The degree of metabolic dysfunction was greatest in obese women with PCOS; women with nonclassic adrenal hyperplasia and lean women with PCOS did not differ in degree of metabolic dysfunction. Women with nonclassic adrenal hyperplasia had a lower prevalence of polycystic ovaries than those with PCOS. The proportion of patients with an LH/FSH ratio >2 was greater in women with PCOS, compared with those with nonclassic adrenal hyperplasia. Basal 17-hydroxyprogesterone levels >2 ng/mL were found in 87%, 25%, 20%, and 7% of women with nonclassic adrenal hyperplasia, lean women with PCOS, obese women with PCOS, and controls, respectively. Conclusion(s) Nonclassic adrenal hyperplasia should be excluded in all women presenting with hirsutism, with use of a basal follicular phase 17-hydroxyprogesterone level, regardless of the presence of polycystic ovaries or metabolic dysfunction; however, women with nonclassic adrenal hyperplasia have a higher prevalence of normal ovulation and lower likelihood of having an LH/FSH ratio >2 or polycystic ovaries.
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The miscarriage rate in women with NC CAH is substantially higher (25%) than in the general population (6%) in some but not all studies.
“The course of pregnancy is usually uneventful; however, the miscarriage rate in women with NC CAH is substantially higher (25%) than in the general population (6%) in some (650,666) but not all (667) studies.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [650]
The miscarriage rate can be reduced to normal in women treated with low to moderate doses of HC, prednisolone or prednisone prior to and during pregnancy.
“The miscarriage rate can be reduced to normal in women treated with low to moderate doses of HC (650), prednisolone or prednisone (666) prior to and during pregnancy.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [650]
Of these pregnancies, 99 occurred before the diagnosis of NC CAH (96/99 spontaneous), and 88 (47%) after the diagnosis (11/88 spontaneous).
“Of these pregnancies, 99 occurred before the diagnosis of NC CAH (96/99 spontaneous), and 88 (47%) after the diagnosis (11/88 spontaneous) (650).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [650]
Of 190 women with NC CAH, 95 wanted pregnancy and 187 pregnancies occurred in 85 women.
“Of 190 women with NC CAH, 95 wanted pregnancy and 187 pregnancies occurred in 85 women.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [650]
The course of pregnancy is usually uneventful in women with NC CAH.
“The course of pregnancy is usually uneventful; however, the miscarriage rate in women with NC CAH is substantially higher (25%) than in the general population (6%) in some (650,666) but not all (667) studies.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [650]
Most (53-68%) women with NC CAH conceive spontaneously without any treatment.
“Most (53-68%) women with NC CAH conceive spontaneously without any treatment (650,666).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [650]
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The Diagnosis of Polycystic Ovary Syndrome during Adolescence
Marina, P., & Beirut, L. (2016)
- Authors
- Pall, M., Azziz, R., Beires, J., & Pignatelli, D.
- Affiliations
- Cedars-Sinai Medical Center (US)
- Hospital de São João (PT)
- Universidade do Porto (PT)
- Corresponding author
- Pignatelli, Duarte
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2010-07
- Volume
- 94
- Issue
- 2
- Pages
- 684-689
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2051943519
- Cited by
- 123
- References
- 37
- Citations by year
- 2026: 10 · 2025: 10 · 2024: 8 · 2023: 4 · 2022: 8 · 2021: 9 · 2020: 6 · 2019: 10 · 2018: 6 · 2017: 7 · 2016: 11 · 2015: 5 · 2014: 12 · 2013: 5 · 2012: 6
- FWCI
- 4.48
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- polycystic ovary syndrome, 21-hydroxylase deficiency, hirsutism, 17-hydroxyprogesterone, LH/FSH ratio, metabolic dysfunction, androstenedione, dehydroepiandrosterone sulfate, polycystic ovary, oligomenorrhea, obesity, differential diagnosis
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adrenocorticotropic Hormone, Adult, Amenorrhea, Diagnosis, Differential, Female, Follicle Stimulating Hormone, Glucose Tolerance Test, Hirsutism, Humans, Insulin Resistance, Luteinizing Hormone, Middle Aged, Obesity, Oligomenorrhea, Phenotype, Polycystic Ovary Syndrome, Prospective Studies, Steroid 21-Hydroxylase, 17-alpha-Hydroxyprogesterone, Young Adult
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