PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
|
CYP21 AND IRS1 |
Adrenal androgen excess. |
IRS1 variant and CYP21 mutations |
|
Related
|
114 patients and 95 controls |
|
|
|
Acne and reduced risk of abdominal obesity |
|
Rotterdam criteria |
Related
|
Taiwanese-318 PCOS |
The results demonstrated the high serum DHEAS in women with PCOS was associated with the presence of acne and a significantly reduced risk of abdominal obesity, independent of serum testosterone concentration and IR. |
|
SHBG |
Hyperandrogenism |
|
NIH criteria |
Related
|
|
The dexamethasone suppression results in postmenopausal PCOS women suggest that DHEAS and total T are partially of adrenal origin. |
|
|
Hyperinsulinemia and hyperandrogenism |
|
|
Related
|
|
In PCOSd, basal and stimulated DHEAS concentrations were higher during the onset of puberty. |
|
Insulin-like growth factor-1 |
|
|
|
Related
|
|
Ovarian stromal blood flow was higher (P<0.01) and uterine perfusion was lower (P<0.01) in women with PCOS compared with women who did not have PCOS. Ovarian stromal artery pulsatility index (PI) was inversely correlated with levels of dehydroepiandrosterone sulfate (DHEAS) and insulin-like growth factor-1, and with the luteinizing hormone/follicle-stimulating hormone ratio. There was a positive correlation between uterine artery PI and DHEAS level. |
|
|
Obesity and insulin resistance |
|
|
Related
|
|
The serum 25-OH-VD mean levels were 56.31% lower in the obese PCOS patients. There was an association of increased HOMA-IR, BMI, WHR, triglycerides, total testosterone, and DHEAS with decreased 25-OH-VD concentrations in the obese PCOS patients. |
|
CYP3A7 |
Androgen excess |
|
NIH criteria |
Related
|
|
This study replicated prior work of the association of CYP3A7*1C and decreased DHEAS in a different population of young PCOS women, providing further genetic evidence that CYP3A7 plays a potential role in modulation of DHEAS levels. Adult expression of CYP3A7 may modify the PCOS phenotype by ameliorating adrenal androgen excess. |
|
SHBG |
Hyperinsulinemia |
|
NICHD criteria |
Related
|
|
DHEAS is negatively correlated to insulin resistance in patients with PCOS, and in our model ranked just behind other well-established predictors including BMI, WHR, and age. Whether this is due to a direct beneficial effect on insulin action by adrenal androgens such as DHEA, or whether DHEAS simply reflects the circulating levels of hyperinsulinemia, remains to be determined. |
|
|
|
|
|
Related
|
|
The women with PCOS had significantly higher TAS, TOS, LH, free androgen index and DHEAS levels. |
|
|
Androgen excess |
|
|
Related
|
|
DHEAS levels and the response of AAs to ACTH are relatively constant over time and are closely correlated between PCOS patients and their siblings suggesting that this abnormality is an inherited trait in PCOS. |
|
SULT2A1,STS |
|
|
NIH criteria |
Related
|
USA(white women)- 287 PCOS and 187 controls |
This study presents genetic evidence suggesting a potential role of SULT2A1, but not STS, in the inherited AA excess of PCOS. |
|
E(2) |
Hyperandrogenism,insulin resistance |
|
Rotterdam criteria |
Related
|
|
These data support the hypothesis that First Degree Relatives (FDRs) of PCOS patients may have insulin resistance and the HPG axis is more susceptible than in control subjects. The FDRs also have an increased prevalence of hyperandrogenism and high DHEAS levels compared with the background population. |
|
SHBG |
Hyperandrogenemia |
|
|
Related
|
Caucasian- 50 PCOS and 57 controls |
Calculated free and bioavailable testosterone, FAI, total testosterone, free testosterone assessed by immunoassay and DHEAS were significantly increased in women classified as having PCOS. |
|
|
|
|
NICHD criteria, Rotterdam criteria |
Related
|
|
The correlation of serum DHEAS levels between PCOS probands and their sisters suggests a familial component in the regulation of DHEAS levels and possibly AA production in PCOS. |
|
E(2),C-peptide,SHBG |
Anovulation,hirsutism,hyperandrogenism |
|
Rotterdam criteria |
Related
|
Turkish- 66 PCOS and 52 controls |
Blood levels of DHEAS, A and 17-HP were higher, whilst SHBG levels were remarkably lower in PCOS cases |
|
|
Insulin resistance |
|
Rotterdam criteria |
Related
|
Total 160 patients (111 White and 50 Mexican American) |
The lower levels of DHEAS observed in the more insulin resistant Mexican American group with PCOS (compared to a similar group of white women living in the same locale) further corroborates the extent of phenotypic variability among specific PCOS populations. Hyperinsulinemia does not appear to significantly influence circulating adrenal androgen levels in PCOS. |
|
SHBG |
|
|
|
Related
|
71 Chinese patients- 39 with Polycystic ovaries and 32 PCOS |
A total of 71 Chinese women were recruited in the study: 39 women with PCO only and 32 women with PCOS. Women with PCO only had significantly lower AFC, ovarian volume, ovarian VI, serum LH, testosterone and DHEAS concentrations but higher serum SHBG concentration when compared with PCOS women. |
|
SHBG |
Androgen excess |
|
|
Related
|
213 PCOS (27 Black and 186 White) and 182 controls (88 Black and 94 White) |
The prevalence of DHEAS excess is approximately 20% among White and 30% among Black PCOS patients, when using age- and race-adjusted normative values. This study also indicates that the age-associated decline in DHEAS levels is observable and similar in both control and PCOS women, regardless of race. While BMI and fasting insulin had little impact on circulating DHEAS levels in healthy women, among White PCOS patients these parameters were negatively associated with circulating DHEAS levels. |
|
SHBG |
Androgen excess,hyperandrogenism |
|
Adamset al., 1986 |
Related
|
|
In the first study period (gestational weeks 10-16), the levels of androstenedione, testosterone and DHEAS and the free androgen index tended to be higher in the PCOS group. |
|
E(2),prolactin |
Subfertility |
|
|
Related
|
2248 white, west European adolescents-107 with regular menstrual cycles, 52 with oligomenorrhoea and 4 with secondary amenorrhoea |
The prevalence of these abnormalities in an unselected population of adolescents is not known. We determined LH, follicle stimulating hormone (FSH), androstenedione, testosterone, dehydroepiandrosterone sulphate (DHEAS), oestradiol and prolactin concentrations in unselected population samples of adolescents with oligomenorrhoea, secondary amenorrhoea and regular menstrual cycles |
|
E(2) |
|
|
|
Related
|
Italy- 10 PCOS with high DHEAS, 12 with normal DHEAS and 6 controls |
In the high DHEAS group the maximum increases in T, A, 17-OHP, and DHEAS in response to ACTH were significantly higher than in normal DHEAS PCOS women and in normal women. The GnRH-a modified the A and T responses to ACTH in the high DHEAS group. |
|
|
|
|
|
Related
|
|
A normal or high DHEAS value in PCOS is more likely to be consistently replicated |
|
PRL |
|
|
|
Related
|
|
Two subgroups of h-DHEAs patients were identified: in the first subgroup, PRL and estrone levels were increased and probably explained the DHEAs hypersecretion; in the second subgroup, the endocrine pattern was very similar to that observed in n-DHEAs patients and a clear explanation for DHEAs increase was not found, although the possibility of an exaggerated secretion of some pituitary hormones with adrenal androgen stimulating activity must be considered. |
|
|
Atherosclerosis |
|
|
Related
|
|
MPV was positively correlated with insulin levels, HOMA-IR values, DHEAS and free testosterone levels in PCOS patients. In multiple stepwise regression analyses, MPV positively associated with insulin and DHEAS. |
|
MAPK and ERK |
Excessive androgen production |
|
Rotterdam and other reference criteria |
Related
|
|
These studies demonstrate that in PCOS cells reduced levels of activated MEK1/2 and ERK1/2 are correlated with increased androgen production, irrespective of the insulin concentration. These findings implicate alterations in the MAPK pathway in the pathogenesis of excessive ovarian androgen production in PCOS. |
|
N363S(glucocorticoid receptor) |
Adrenal androgen excess. |
N363S mutation |
|
Related
|
114 patients and 92 controls |
The N363S variant of GRL was an uncommon occurrence in our population of healthy women and PCOS patients and did not appear to play a major role in the genetic predisposition to PCOS or to AA excess in PCOS. |
|
SHBG, malondialdehyde (MDA), reduced glutathione (GSH), carotene, vitamin A, C, E and the enzyme activities of catalase and glutathione S-transferase (GST) |
Oxidative stress,Insulin resistance and Hyperglycemia |
|
|
Related
|
|
Serum glucose, insulin, total testosterone, DHEAS, HOMA-IR levels, and LH/FSH ratios were higher in young non-obese women with PCOS. |
|
ET-1, malondialdehyde (MDA), Apo A1, Apo B,PON1,SHBG |
Insulin resistance, dyslipidemia, endothelial dysfunction, and oxidative stress,cardiovascular disease |
|
|
Related
|
|
Significantly decreased SHBG, NO, HDL-C levels, and PON1 activities, but increased tT, fT, androstenedione, DHEAS, HOMA index, MDA, ET-1, LDL-C, sdLDL-C, and LbLDL-C values were found in PCOS patients compared with those of controls. |
|
PAPSS2, STS |
PCOS, hyperandrogenic |
SNP rs2910397 in SULT2A1 |
Rotterdam criteria |
Related
|
582 patients and 2017 controls |
Genetic variants in SULT2A1, PAPSS2, and STS do not predispose to PCOS. Although a variant in SULT2A1 decreased the DHEAS to DHEA ratio, no changes in other androgenic hormone levels were observed. |