Diagnostics

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11 pages, 1824 KiB

Open AccessArticle

Examining the Genetic Role of rs8192675 Variant in Saudi Women Diagnosed with Polycystic Ovary Syndrome

by Sarah Alsobaie, Arwa A. Alageel, Tahira Ishfaq, Imran Ali Khan and Khalid Khalaf Alharbi

Diagnostics 2023, 13(20), 3214; https://doi.org/10.3390/diagnostics13203214 - 14 Oct 2023

Cited by 3 | Viewed by 1368

Abstract

Polycystic ovary syndrome is a complex disorder defined by the Rotterdam criteria. Insulin resistance is a common factor for the development of type 2 diabetes mellitus among women with PCOS. The SLC2A2 gene has been identified as a T2DM gene by genome-wide association [...] Read more.

Polycystic ovary syndrome is a complex disorder defined by the Rotterdam criteria. Insulin resistance is a common factor for the development of type 2 diabetes mellitus among women with PCOS. The SLC2A2 gene has been identified as a T2DM gene by genome-wide association studies in the rs8192675 SNP. This study aimed to investigate the rs8192675 SNP in women diagnosed with PCOS on a molecular level and further for T2DM development in the Saudi women. In this case-control study, 100 PCOS women and 100 healthy controls were selected. Among 100 PCOS women, 28 women showed T2DM development. Genotyping for rs8192675 SNP was performed by PCR-RFLP analysis. Additionally, Sanger sequencing was performed to validate the RFLP analysis. The obtained data were used for a statistical analysis for the genotype and allele frequencies, logistic regression, and ANOVA analysis. The clinical data confirmed the positive association between FBG, FI, FSH, TT, TC, HDLc, LDLc, and family histories (p < 0.05). HWE analysis was associated in both the PCOS cases and the control individuals. Genotype and allele frequencies were associated in PCOS women and strongly associated with women with PCOS who developed T2DM (p < 0.05). No association was found in the logistic regression model or ANOVA analysis studied in women with PCOS (p > 0.05). A strong association was observed between the rs8192675 SNP and women with PCOS who developed T2DM using ANOVA analysis (p < 0.05). This study confirms that the rs8192675 SNP is associated with women with PCOS and strongly associated with women with PCOS with developed T2DM in Saudi Arabia. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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12 pages, 494 KiB

Open AccessArticle

Anti-Mullerian Hormone-Based Phenotyping Identifies Subgroups of Women with Polycystic Ovary Syndrome with Differing Clinical and Biochemical Characteristics

by Minhthao Thi Nguyen, Sridevi Krishnan, Sonal V. Phatak and Sidika E. Karakas

Diagnostics 2023, 13(3), 500; https://doi.org/10.3390/diagnostics13030500 - 30 Jan 2023

Cited by 5 | Viewed by 2000

Abstract

Even though polycystic ovary syndrome (PCOS) was originally defined as “amenorrhea associated with bilateral polycystic ovaries”, women without PCO morphology can be included in this diagnosis. This may contribute to the clinical heterogeneity seen in PCOS. Serum anti-Mullerian hormone (AMH) correlates with the [...] Read more.

Even though polycystic ovary syndrome (PCOS) was originally defined as “amenorrhea associated with bilateral polycystic ovaries”, women without PCO morphology can be included in this diagnosis. This may contribute to the clinical heterogeneity seen in PCOS. Serum anti-Mullerian hormone (AMH) correlates with the number of ovarian cysts. We investigated whether phenotyping based on serum AMH can distinguish subgroups of PCOS with different clinical and biochemical characteristics. The electronic medical records of 108 women with PCOS (Rotterdam criteria) were reviewed. The serum AMH value correlated inversely (0.03 < p < 0.0001) with age, weight, and BMI values and directly with serum total testosterone (T), free T, and bioavailable T values. When divided into quartiles based on serum AMH values, the women in the highest quartile (AMH: 18.5 ± 9.9 ng/mL; n = 27) had lower BMI (29.4 ± 6.9 vs. 34.0 ± 10.6–36.7 ± 7.2 kg/m²) but higher total T (51.3 ± 27.2 vs. 26.5 ± 10.4–35.1 ± 16.3 ng/dL), free T (7.7 ± 6.0 vs. 4.4 ± 2.3–5.7 ± 3.2 ng/dL), and bioavailable T (22.1 ± 17.0 vs. 12.2 ± 6.6–16.5 ± 8.7 ng/dL) values. The combination of high AMH and high testosterone values may point to the ovaries and reproductive etiology for PCOS in this subgroup. Thus, AMH-based phenotyping may provide a practical and cost-effective tool to explore the heterogeneity in PCOS. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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16 pages, 1468 KiB

Open AccessArticle

Hormonal and Metabolic Factors Influence the Action of Progesterone on the Endometrium of Women with Polycystic Ovary Syndrome

by Maria Candida P. Baracat, Edmund C. Baracat, Ricardo S. Simões, Manuel J. Simões, Gustavo A. R. Maciel, Ricardo Azziz and José Maria Soares, Jr.

Diagnostics 2023, 13(3), 382; https://doi.org/10.3390/diagnostics13030382 - 19 Jan 2023

Cited by 11 | Viewed by 2561

Abstract

Hormonal and metabolic factors may influence endometrial quality and interfere with the action of progesterone. Therefore, the aim of our study was to address this issue. Participants were recruited from an outpatient reproductive endocrinology clinic at an academic tertiary medical care centre. All [...] Read more.

Hormonal and metabolic factors may influence endometrial quality and interfere with the action of progesterone. Therefore, the aim of our study was to address this issue. Participants were recruited from an outpatient reproductive endocrinology clinic at an academic tertiary medical care centre. All subjects underwent endometrial biopsy (EB) in the follicular phase of the cycle prior to treatment. Thereafter, they were treated with micronized progesterone (400 mg/day × 10 days intravaginally) from days 14–28 of the next cycle. A second EB was performed between days 21–24 of the cycle (the second phase). The metabolic and hormonal serum levels were evaluated during the implantation window. EB samples were analysed using light microscopy for histomorphometric analysis. The endometrium of women with Polycystic Ovarian Syndrome (PCOS) in the second phase demonstrated a uniform surface epithelium with less leukocyte infiltration and an absence of apoptotic figures compared to the control group. (p < 0.021). The thickness of the surface epithelium in the second phase of the PCOS group correlated positively with free and bioavailable testosterone values. The number of stromal cells increases with increasing insulin levels. Our results suggest that histomorphometric abnormalities of the endometrium persist and are linked to androgen and insulin levels despite progesterone supplementation in PCOS. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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13 pages, 639 KiB

Open AccessArticle

Diagnostic Performance of Ovarian Morphology on Ultrasonography across Anovulatory Conditions—Impact of Body Mass Index

by Heidi Vanden Brink, Brittany Y. Jarrett, Nigel Pereira, Steven D. Spandorfer, Kathy M. Hoeger and Marla E. Lujan

Diagnostics 2023, 13(3), 374; https://doi.org/10.3390/diagnostics13030374 - 19 Jan 2023

Cited by 3 | Viewed by 2056

Abstract

The study objectives were to determine whether ovarian morphology can distinguish between women with regular menstrual cycles, normo-androgenic anovulation (NA-Anov), and PCOS and whether body mass index (BMI)-specific thresholds improved diagnostic potential. Women with PCOS (biochemical and/or clinical hyperandrogenism and irregular cycles; N [...] Read more.

The study objectives were to determine whether ovarian morphology can distinguish between women with regular menstrual cycles, normo-androgenic anovulation (NA-Anov), and PCOS and whether body mass index (BMI)-specific thresholds improved diagnostic potential. Women with PCOS (biochemical and/or clinical hyperandrogenism and irregular cycles; N = 66), NA-Anov (irregular cycles without clinical and/or biochemical hyperandrogenism; N = 64), or regular cycles (controls; cycles every 21–35 days in the absence of clinical or biochemical hyperandrogenism; N = 51) were evaluated. Participants underwent a reproductive history, physical exam, transvaginal ultrasound, and a fasting blood sample. Linear regression analyses were used to assess the impact of BMI on ovarian morphology across groups. The diagnostic performance of ovarian morphology for anovulatory conditions, and by BMI (lean: <25 kg/m²; overweight: ≥25 kg/m²), was tested using Receiver Operating Characteristic (ROC) curves. Follicle number per ovary (FNPO) and ovarian volume (OV), but not follicle number per cross-section (FNPS), increased across controls, NA-Anov, and PCOS. Overall, FNPO had the best diagnostic performance for PCOS versus controls (AUC_ROC = 0.815) and NA-Anov and controls (AUC_ROC = 0.704), and OV to differentiate between PCOS and NA-Anov (AUC_ROC = 0.698). In lean women, FNPO best differentiated between PCOS and controls (AUC_ROC = 0.843) and PCOS versus NA-Anov (AUC_ROC = 0.710). FNPS better distinguished between NA-Anov and controls (AUC_ROC = 0.687), although diagnostic performance was lower than when thresholds were generated using all participants. In women with overweight and obesity, OV persisted as the best diagnostic feature across all analyses (PCOS versus control, AUC_ROC = 0.885; PCOS versus NA-Anov, AUC_ROC = 0.673; NA-Anov versus controls, AUC_ROC = 0.754). Ovarian morphology holds diagnostic potential to distinguish between NA-Anov and PCOS, with marginal differences in diagnostic potential when participants were stratified by BMI suggesting that follicle number may provide better diagnostic performance in lean women and ovarian size in those with overweight. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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11 pages, 845 KiB

Open AccessArticle

Polycystic Ovary Syndrome, Subclinical Hypothyroidism, the Cut-Off Value of Thyroid Stimulating Hormone; Is There a Link? Findings of a Population-Based Study

by Ehsan Rojhani, Maryam Rahmati, Faegheh Firouzi, Marzieh Saei Ghare Naz, Fereidoun Azizi and Fahimeh Ramezani Tehrani

Diagnostics 2023, 13(2), 316; https://doi.org/10.3390/diagnostics13020316 - 15 Jan 2023

Cited by 6 | Viewed by 3391

Abstract

Despite solid evidence regarding the association of over-hypothyroidism with polycystic ovary syndrome (PCOS), the relationship between PCOS and subclinical hypothyroidism (SCH) is still a topic of debate. In the present population-based study, we aimed to assess if there is a difference between PCOS [...] Read more.

Despite solid evidence regarding the association of over-hypothyroidism with polycystic ovary syndrome (PCOS), the relationship between PCOS and subclinical hypothyroidism (SCH) is still a topic of debate. In the present population-based study, we aimed to assess if there is a difference between PCOS and the control group regarding the upper reference limit of thyroid stimulating hormone (TSH). We also aimed to identify the prevalence of SCH in women with PCOS compared to controls. This study was conducted on data collected in the Iranian PCOS prevalence study and the Khuzestan PCOS prevalence study. Participants that met our eligibility criteria were categorized into two groups: PCOS (n = 207) and control (n = 644). Quantile and logistic regression models were used to explore the effect of PCOS status on TSH cut-off values and SCH, respectively. The 95 percentiles of TSH were not significantly different in the PCOS group compared to control ones (6.12 and 6.56 microU/mL, respectively). There was no statistically significant association between PCOS status and SCH (OR adjusted: 1.40; 95%CI: 0.79, 2.50; p = 0.2). The prevalence of SCH and the upper reference limit of TSH were not significantly different in PCOS and controls. Investigation of SCH in women with PCOS might be questionable. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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8 pages, 225 KiB

Open AccessArticle

Comparing Lean and Obese PCOS in Different PCOS Phenotypes: Evidence That the Body Weight Is More Important than the Rotterdam Phenotype in Influencing the Metabolic Status

by Enrico Carmina and Rogerio A. Lobo

Diagnostics 2022, 12(10), 2313; https://doi.org/10.3390/diagnostics12102313 - 25 Sep 2022

Cited by 21 | Viewed by 4693

Abstract

Polycystic Ovary Syndrome (PCOS) represents a heterogeneous disorder and, using Rotterdam diagnostic criteria, four main phenotypes (A, B, C, and D) have been distinguished. However, it remains unclear whether lean versus obesity status influences findings in the various phenotypes of women with PCOS. [...] Read more.

Polycystic Ovary Syndrome (PCOS) represents a heterogeneous disorder and, using Rotterdam diagnostic criteria, four main phenotypes (A, B, C, and D) have been distinguished. However, it remains unclear whether lean versus obesity status influences findings in the various phenotypes of women with PCOS. 274 women with PCOS were consecutively assessed. Among these women, there were 149 with phenotype A, 24 with phenotype B, 94 with phenotype C, and 7 with phenotype D. We found normal body weight to be very common (65%) in phenotype C patients, common (43%) in phenotype A and D patients, and less represented (but still 25%) in phenotype B patients. Obesity was common in phenotype B (54%) and phenotype A (33%) patients and uncommon in phenotype C (only 11%) and phenotype D (14%) patients. Obese and lean patients of each phenotype were compared. Compared to the phenotype C PCOS patients, both phenotype A and B patients had higher total testosterone circulating values and higher luteinizing hormone/follicle stimulating hormone (LH/FSH) ratio (p < 0.01) while anti-Mullerian hormone (AMH) levels were higher only in phenotype A PCOS patients. Instead, in the three obese PCOS phenotypes no differences in serum insulin, Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) calculation, and lipid blood values were observed. Analysis of data of lean patients gave similar results. Compared to the phenotype C PCOS patients, both phenotype A and B patients had higher total testosterone circulating values and higher LH/FSH ratio (p < 0.01) while AMH levels were higher only in phenotype A PCOS patients. However, no differences were observed in the circulating insulin levels, HOMA-IR calculation, or blood lipids between the three groups of lean PCOS patients. We conclude that Rotterdam phenotypes express the differences between PCOS patients in terms of ovulatory pattern and androgen secretion but fail to differentiate between obese patients with altered metabolic patterns and lean patients with normal metabolic patterns. A new classification of PCOS patients is needed and it should consider the influence of body weight on the metabolic patterns of PCOS patients. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

Review

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13 pages, 588 KiB

Open AccessReview

Assessment of Type 2 Diabetes Risk in Young Women with Polycystic Ovary Syndrome

by Sarantis Livadas, Rodis Paparodis, Panagiotis Anagnostis, Alessandra Gambineri, Jelica Bjekić-Macut, Tijana Petrović, Bulent O. Yildiz, Dragan Micić, George Mastorakos and Djuro Macut

Diagnostics 2023, 13(12), 2067; https://doi.org/10.3390/diagnostics13122067 - 14 Jun 2023

Cited by 8 | Viewed by 2589

Abstract

Women with polycystic ovary syndrome (PCOS) are at increased risk for dysglycemia and type 2 diabetes compared to healthy BMI-matched women of reproductive age: robust evidence exists supporting this notion. The presence of altered glycemic status in young women with the syndrome presents [...] Read more.

Women with polycystic ovary syndrome (PCOS) are at increased risk for dysglycemia and type 2 diabetes compared to healthy BMI-matched women of reproductive age: robust evidence exists supporting this notion. The presence of altered glycemic status in young women with the syndrome presents a distinct challenge for the clinician for several reasons. Firstly, the reported incidence of this disorder varies among the limited available studies. Furthermore, there is a lack of consensus on the best screening method, which women to screen, at what frequency, and which strategies need to be implemented to reduce the above risk. We provide data regarding the prevalence of dysglycemia in young women suffering from PCOS and the pathophysiological mechanisms underlying the disorder. In addition, we present evidence suggesting universal screening with the oral glucose tolerance test in young women with the syndrome, irrespective of age or BMI status, to identify and manage glycemic abnormalities in a timely manner. Regarding follow-up, oral glucose testing should be carried out at regular intervals if there are initial abnormal findings or predisposing factors. Finally, the efficacy of a well-balanced diet in conjunction with regular exercise and the use of non-pharmacologic agents in this specific population is discussed. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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13 pages, 318 KiB

Open AccessReview

Polycystic Ovary Syndrome: Pathophysiology and Controversies in Diagnosis

by Duaa Fahs, Dima Salloum, Mona Nasrallah and Ghina Ghazeeri

Diagnostics 2023, 13(9), 1559; https://doi.org/10.3390/diagnostics13091559 - 26 Apr 2023

Cited by 4 | Viewed by 12937

Abstract

Polycystic ovary syndrome (PCOS) is a complex and heterogeneous disorder that commonly affects women in the reproductive age group. The disorder has features that propose a blend of functional reproductive disorders, such as anovulation and hyperandrogenism, and metabolic disorders, such as hyperglycemia, hypertension, [...] Read more.

Polycystic ovary syndrome (PCOS) is a complex and heterogeneous disorder that commonly affects women in the reproductive age group. The disorder has features that propose a blend of functional reproductive disorders, such as anovulation and hyperandrogenism, and metabolic disorders, such as hyperglycemia, hypertension, and obesity in women. Until today, the three implemented groups of criteria for the diagnosis of PCOS are from the National Institutes of Health (NIH) in the 1990s, Rotterdam 2003, and the Androgen Excess Polycystic Ovary Syndrome 2009 criteria. Currently, the most widely utilized criteria are the 2003 Rotterdam criteria, which validate the diagnosis of PCOS with the incidence of two out of the three criteria: hyperandrogenism (clinical and/or biochemical), irregular cycles, and polycystic ovary morphology. Currently, the anti-Müllerian hormone in serum is introduced as a substitute for the follicular count and is controversially emerging as an official polycystic ovarian morphology/PCOS marker. In adolescents, the two crucial factors for PCOS diagnosis are hyperandrogenism and irregular cycles. Recently, artificial intelligence, specifically machine learning, is being introduced as a promising diagnostic and predictive tool for PCOS with minimal to zero error that would help in clinical decisions regarding early management and treatment. Throughout this review, we focused on the pathophysiology, clinical features, and diagnostic challenges in females with PCOS. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

11 pages, 267 KiB

Open AccessReview

Current Guidelines for Diagnosing PCOS

by Jacob P. Christ and Marcelle I. Cedars

Diagnostics 2023, 13(6), 1113; https://doi.org/10.3390/diagnostics13061113 - 15 Mar 2023

Cited by 62 | Viewed by 19783

Abstract

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive-aged women. Much of the confusion surrounding PCOS diagnosis stems from the broad heterogeneity of symptomology experienced by women with PCOS. The diverse features of the syndrome have led to a number [...] Read more.

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive-aged women. Much of the confusion surrounding PCOS diagnosis stems from the broad heterogeneity of symptomology experienced by women with PCOS. The diverse features of the syndrome have led to a number of diagnostic criteria over the years. This manuscript describes each of the current composite criteria and individually breaks down each component. The importance of accurate diagnosis for both clinical care and research is emphasized. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

12 pages, 911 KiB

Open AccessReview

The Role of Serum Anti-Mullerian Hormone Measurement in the Diagnosis of Polycystic Ovary Syndrome

by Mala S. Sivanandy and Sierra K. Ha

Diagnostics 2023, 13(5), 907; https://doi.org/10.3390/diagnostics13050907 - 27 Feb 2023

Cited by 8 | Viewed by 4934

Abstract

Polycystic ovary syndrome (PCOS) is a common endocrinological disorder in women with significant reproductive, metabolic, and psychological health implications. The lack of a specific diagnostic test poses challenges in making the diagnosis of PCOS, resulting in underdiagnosis and undertreatment. Anti-Mullerian hormone (AMH) synthesized [...] Read more.

Polycystic ovary syndrome (PCOS) is a common endocrinological disorder in women with significant reproductive, metabolic, and psychological health implications. The lack of a specific diagnostic test poses challenges in making the diagnosis of PCOS, resulting in underdiagnosis and undertreatment. Anti-Mullerian hormone (AMH) synthesized by the pre-antral and small antral ovarian follicles appears to play an important role in the pathophysiology of PCOS, and serum AMH levels are often elevated in women with PCOS. The aim of this review is to inform the possibility of utilizing anti-Mullerian hormone either as a diagnostic test for PCOS or as an alternative diagnostic criterion in place of polycystic ovarian morphology, hyperandrogenism, and oligo-anovulation. Increased levels of serum AMH correlate highly with PCOS, polycystic ovarian morphology, hyperandrogenism, and oligo/amenorrhea. Additionally, serum AMH has high diagnostic accuracy as an isolated marker for PCOS or as a replacement for polycystic ovarian morphology. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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14 pages, 1160 KiB

Open AccessReview

A Meta-Analysis of Observational Studies on Prolactin Levels in Women with Polycystic Ovary Syndrome

by Marzieh Saei Ghare Naz, Maryam Mousavi, Fatemeh Mahboobifard, Atrin Niknam and Fahimeh Ramezani Tehrani

Diagnostics 2022, 12(12), 2924; https://doi.org/10.3390/diagnostics12122924 - 23 Nov 2022

Cited by 9 | Viewed by 4713

Abstract

Women with polycystic ovary syndrome (PCOS) are reported to have different levels of prolactin (PRL) compared to women without PCOS. This study aimed to evaluate the PRL levels in women with PCOS, compared to the control group, before and after adjustment for potential [...] Read more.

Women with polycystic ovary syndrome (PCOS) are reported to have different levels of prolactin (PRL) compared to women without PCOS. This study aimed to evaluate the PRL levels in women with PCOS, compared to the control group, before and after adjustment for potential confounders. Using a logical combination of keywords, a comprehensive search was carried out in PubMed and Web of Science, from inception to 30 August 2022. Weighted mean differences (WMDs) with corresponding 95% CIs in PRL levels were employed with a random-effects model. I² was applied to evaluate heterogeneity among studies. A meta-regression analysis and subgroup analysis were conducted to explore heterogeneity sources. Publication bias was assessed by the Egger test. Thirty-two studies, measuring PRL levels in 8551 PCOS patients according to the Rotterdam criteria and 13,737 controls, were included in the meta-analysis. Pooled effect size suggested that the overall weighted mean difference (WMD) of PRL level was significantly higher in women with PCOS, compared to controls (WMD = 1.01, 95% CI: 0.04–1.98, p = 0.040). The result of meta-regression adjusted for age, BMI, and the continent of origin, revealed no confounding effect on results. Sub-group analysis of PRL levels according to the continent of origin showed significantly higher PRL levels among Eurasian PCOS patients compared to the control; this difference was not statistically significant in the subgroups of women from Asia, Europe, and South America. In conclusion, PRL levels in patients who were diagnosed according to the Rotterdam criteria were significantly higher than non-PCOS participants. Slightly higher levels of PRL could be presented as a diagnostic feature of PCOS. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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14 pages, 1602 KiB

Open AccessReview

Differentiating Polycystic Ovary Syndrome from Adrenal Disorders

by Mert Yesiladali, Melis G. K. Yazici, Erkut Attar and Fahrettin Kelestimur

Diagnostics 2022, 12(9), 2045; https://doi.org/10.3390/diagnostics12092045 - 24 Aug 2022

Cited by 11 | Viewed by 18419

Abstract

Although polycystic ovary syndrome (PCOS) is primarily considered a hyperandrogenic disorder in women characterized by hirsutism, menstrual irregularity, and polycystic ovarian morphology, an endocrinological investigation should be performed to rule out other hyperandrogenic disorders (e.g., virilizing tumors, non-classical congenital adrenal hyperplasia (NCAH), hyperprolactinemia, [...] Read more.

Although polycystic ovary syndrome (PCOS) is primarily considered a hyperandrogenic disorder in women characterized by hirsutism, menstrual irregularity, and polycystic ovarian morphology, an endocrinological investigation should be performed to rule out other hyperandrogenic disorders (e.g., virilizing tumors, non-classical congenital adrenal hyperplasia (NCAH), hyperprolactinemia, and Cushing’s syndrome) to make a certain diagnosis. PCOS and androgen excess disorders share clinical features such as findings due to hyperandrogenism, findings of metabolic syndrome, and menstrual abnormalities. The diagnosis of a woman with these symptoms is generally determined based on the patient’s history and rigorous clinical examination. Therefore, distinguishing PCOS from adrenal-originated androgen excess is an indispensable step in diagnosis. In addition to an appropriate medical history and physical examination, the measurement of relevant basal hormone levels and dynamic tests are required. A dexamethasone suppression test is used routinely to make a differential diagnosis between Cushing’s syndrome and PCOS. The most important parameter for differentiating PCOS from NCAH is the measurement of basal and ACTH-stimulated 17-OH progesterone (17-OHP) when required in the early follicular period. It should be kept in mind that rapidly progressive hyperandrogenic manifestations such as hirsutism may be due to an androgen-secreting adrenocortical carcinoma. This review discusses the pathophysiology of androgen excess of both adrenal and ovarian origins; outlines the conditions which lead to androgen excess; and aims to facilitate the differential diagnosis of PCOS from certain adrenal disorders. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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30 pages, 1551 KiB

Open AccessReview

Criteria for Diagnosis of Polycystic Ovary Syndrome during Adolescence: Literature Review

by Alexia S. Peña, Ethel Codner and Selma Witchel

Diagnostics 2022, 12(8), 1931; https://doi.org/10.3390/diagnostics12081931 - 10 Aug 2022

Cited by 18 | Viewed by 12939

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine conditions in women. PCOS may be more challenging to diagnose during adolescence due to an overlap with the physiological events of puberty, which are part of the diagnostic criteria in adult women. [...] Read more.

Polycystic ovary syndrome (PCOS) is one of the most common endocrine conditions in women. PCOS may be more challenging to diagnose during adolescence due to an overlap with the physiological events of puberty, which are part of the diagnostic criteria in adult women. This review focuses on the evidence available in relation to PCOS diagnostic criteria for adolescents. Adolescent PCOS should be diagnosed using two main criteria irregular -menstrual cycles (relative to number of years post-menarche) and hyperandrogenism (clinical and/or biochemical); after excluding other conditions that mimic PCOS. Accurate definitions of the two main criteria will decrease challenges/controversies with the diagnosis and provide timely diagnosis during adolescence to establish early management. Despite the attempts to create accurate diagnostic criteria and definitions, this review highlights the limited research in this area, especially in the follow up of adolescents presenting with one diagnostic feature that are called “at risk of PCOS”. Studies in adolescents continue to use the Rotterdam diagnostic criteria that uses pelvic ultrasound. This is inappropriate, because previous and emerging data that show many healthy adolescents have polycystic ovarian morphology in the early years post-menarche. In the future, anti-Müllerian hormone levels might help support PCOS diagnosis if adolescents meet two main criteria. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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12 pages, 878 KiB

Open AccessReview

Hirsutism, Normal Androgens and Diagnosis of PCOS

by Poli Mara Spritzer, Lucas Bandeira Marchesan, Betânia Rodrigues Santos and Tayane Muniz Fighera

Diagnostics 2022, 12(8), 1922; https://doi.org/10.3390/diagnostics12081922 - 9 Aug 2022

Cited by 18 | Viewed by 8345

Abstract

Hirsutism is defined as the presence of terminal hair with male pattern distribution in women. While in the general population, hirsutism affects around 4–11% of women, it is the main manifestation of hyperandrogenism in women with polycystic ovary syndrome (PCOS), with a prevalence [...] Read more.

Hirsutism is defined as the presence of terminal hair with male pattern distribution in women. While in the general population, hirsutism affects around 4–11% of women, it is the main manifestation of hyperandrogenism in women with polycystic ovary syndrome (PCOS), with a prevalence estimated at 65–75%. Hirsutism in PCOS is associated with both androgen excess and individual response of the pilosebaceous unit to androgens. The modified Ferriman–Gallwey (mFG) scoring system has been widely used in clinical practice to visually score excessive terminal hair, thus standardizing hirsutism evaluation and facilitating data comparison. Although a universal mFG score cutoff would be useful for comparisons, ethnic variations, as well as skin type and other factors, should be considered when evaluating hirsutism in distinct populations. In turn, androgen levels, measured by conventional techniques, have been shown to correlate poorly with the severity of hirsutism. Indeed, while most women with PCOS and hirsutism also have higher than reference values for serum androgen levels, some of them may not present with biochemical hyperandrogenism, representing a challenge to the diagnosis of PCOS. In this article, we critically review this not uncommon condition in women with PCOS presenting with hirsutism but normal androgen levels. Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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Other

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5 pages, 190 KiB

Open AccessViewpoint

Need to Introduce the Finding of Obesity or Normal Body Weight in the Current Diagnostic Criteria and in the Classification of PCOS

by Enrico Carmina

Diagnostics 2022, 12(10), 2555; https://doi.org/10.3390/diagnostics12102555 - 21 Oct 2022

Cited by 3 | Viewed by 1835

Abstract

The diagnosis of PCOS is based on the Rotterdam guidelines: chronic anovulation, hyperandrogenism (biologic or clinical) and polycystic ovaries on ultrasound. Two of these three criteria are sufficient for making diagnosis of PCOS. However, one characteristic that is often associated to PCOS (obesity [...] Read more.

The diagnosis of PCOS is based on the Rotterdam guidelines: chronic anovulation, hyperandrogenism (biologic or clinical) and polycystic ovaries on ultrasound. Two of these three criteria are sufficient for making diagnosis of PCOS. However, one characteristic that is often associated to PCOS (obesity with severe insulin resistance and metabolic alteration regarding glucose metabolism and lipid pattern) has remained out of the current classification of PCOS. Because of this, patients with different metabolic and cardiovascular risk may be included in the same phenotype, and it makes more difficult to establish clear strategies of follow-up and treatment of the patients with increased risks, and also may hide genetic or environmental differences between PCOS patients. Our recent study has shown that metabolic alterations are linked to the weight and not to the Rotterdam phenotypes. Because of this, we suggest a new classification of PCOS phenotypes that divides each Rotterdam phenotype in obese (ob) or lean (l) sub-phenotype. An improved classification of PCOS may be essential for permitting new progress in our understanding of pathogenesis and treatment of PCOS (or of the different disorders that are part of PCOS). Full article

(This article belongs to the Special Issue Diagnosis of Polycystic Ovary Syndrome (PCOS): State-of-the-Art and Open Questions)

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