Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome

Kahsar-Miller, Melissa; Boots, Larry R.; Bartolucci, Alfred A.; Azziz, Ricardo

doi:10.1016/j.fertnstert.2004.05.068

Cited by 36 publications

(24 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Finally, we should indicate that candidate gene analysis to date has not revealed any significant effect of a T to C substitution in the 5′ promoter region of CYP17 [54], the N363S allele representing a variant of the glucocorticoid receptor (GRL) [104], and a G972R variant of the IRS-1 gene [27]. We also did not find an association between eight common mutations of CYP21 and AA excess in PCOS [27], in agreement with others [105].…”

Section: Heritability Of Adrenal Steroidogenesis In Pcossupporting

confidence: 89%

“…In fact, the single steroidogenic difference observed between PCOS women and healthy controls appears to be a greater estimated Δ 5 17-OH activity [50], primarily observed in PCOS patients with high DHEAS levels [43]. A common polymorphism of CYP17, the gene encoding P450c17, did not appear to have an important modulatory role on circulating DHEAS levels [54], although more extensive analysis of this gene for other potential variations has not yet been done.…”

Section: B) Abnormalities Of Adrenocortical Biosynthesis In Pcosmentioning

confidence: 94%

See 1 more Smart Citation

The adrenal and polycystic ovary syndrome

Yildiz

Azziz

2007

Rev Endocr Metab Disord

Self Cite

115

View full text Add to dashboard Cite

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders characterized by androgen excess, oligo-ovulation and polycystic ovaries. Although ovaries are the main source of increased androgens in the syndrome, between 20 and 30% of patients with PCOS have adrenal androgen (AA) excess, detectable primarily by elevated dehydroepiandrosterone sulfate (DHEAS) levels. Patients with PCOS demonstrate a generalized hypersecretion of adrenocortical products, basally and in response to ACTH stimulation. The mechanisms of these abnormalities are unclear although AA excess in PCOS is likely a complex trait, modulated by both intrinsic and acquired factors. To date, no specific genetic defects have been identified. The production of AAs in response to ACTH appears to be closely related to altered factors regulating glucose-mediated glucose disposal, increased peripheral metabolism of cortisol, and to a less extent to the effects of extra-adrenal androgens, insulin resistance, hyperinsulinemia or obesity. Finally, 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.

show abstract

Section: Heritability Of Adrenal Steroidogenesis In Pcossupporting

confidence: 89%

Section: B) Abnormalities Of Adrenocortical Biosynthesis In Pcosmentioning

confidence: 94%

The adrenal and polycystic ovary syndrome

Yildiz

Azziz

2007

Rev Endocr Metab Disord

Self Cite

115

View full text Add to dashboard Cite

show abstract

“…Through screening the title and reading the abstract and the entire article, 10 eligible articles (Diamanti-Kandarakis et al, 1999;Ding, 2007;Echiburú et al, 2008;Kahsar-Miller et al, 2004;Luo, 2007;Marszalek et al, 2001;Park et al, 2008;Pusalkar et al, 2009;Tan et al, 2005;Unsal et al, 2009) (seven in English (Diamanti-Kandarakis et al, 1999;Echiburú et al, 2008;Kahsar-Miller et al, 2004;Marszalek et al, 2001;Park et al, 2008;Pusalkar et al, 2009;Unsal et al, 2009) and three (Ding, 2007;Luo, 2007;Tan et al, 2005) in Chinese) were selected for this meta-analysis, two of which were the dissertations of postgraduate students (Ding, 2007;Luo, 2007). There were 5 studies of Asian patients and 5 studies of Caucasian patients, including 1321 PCOS cases and 1017 controls.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

“…Over the last two decades, a number of case-control studies (Diamanti-Kandarakis et al, 1999;Ding, 2007;Echiburú et al, 2008;Kahsar-Miller et al, 2004;Luo, 2007;Marszalek et al, 2001Park et al, 2008Pusalkar et al, 2009;Tan et al, 2005;Unsal et al, 2009) were conducted to investigate the association between CYP17 T/C polymorphisms and PCOS risk in humans. But these studies reported conflicting results.…”

Section: Introductionmentioning

confidence: 99%

Polymorphism T→C of gene CYP17 promoter and polycystic ovary syndrome risk: A meta-analysis

Liu

Luo

et al. 2012

Gene

View full text Add to dashboard Cite

“…PCOS-ben az 5-α-reduktáz aktivitása megnövekedett [21][22][23][24][25]. Az 5-α-reduktáz két izoformá-ját tudjuk elkülöníteni, amelyek két különböző génen kódoltak (SRD5A1 és SRD5A2).…”

Section: Kandidáns Gének a Szteroidszintézisbenunclassified

Genetikai és epigenetikai faktorok polycystás ovarium szindróma esetén

et al. 2016

View full text Add to dashboard Cite

A polycystás ovarium szindróma kialakulásának pontos mechanizmusa a mai napig nem tisztázott, de környezeti, illetve genetikai tényezők nagy valószínűséggel szerepet játszhatnak a kialakulásában. Ezt a megállapítást alátámasztja a gyakran előforduló családi halmozódás is. A praenatalis időszakban elszenvedett teratogén hatások a postnatalis időszakban kialakuló krónikus betegségek kifejlődéséhez vezethetnek. A szerzők polycystás ovarium szindrómában a genetikai és epigenetikai tényezők szerepével foglalkozó, 2016. január 1-jéig publikált szakirodalmi közlemények alapján szakirodalmi kutatást végeztek. Jelen összefoglaló közlemény célja e különleges betegségcsoportra való figyelemfelhívás, valamint e kórképek genetikai és epigenetikai hátterének ismertetése. Orv. Hetil., 2016, 157(32), 1275-1281. Kulcsszavak: polycystás ovarium szindróma, genetika, epigenetika Genetic and epigenetic factors of polycystic ovary syndromeThe development of polycystic ovary syndrome and its exact pathophysiological mechanism is still unclear, but environmental and genetic factors likely play a role. Exposition to teratogenic effects during the prenatal development can lead to chronic diseases in the postnatal period. This finding confirms the common familial aggregation as well. A literature search was conducted up to January 1, 2016 for articles dealing with the genetic or epigenetic factors of polycystic ovary syndrome. This review will discuss the current understanding of the genetic basis and clinical presentation of this disease. Keywords: polycystic ovary syndrome, genetics, epigeneticsHerczeg, Z., Vanya, M., Szili, K., Dézsi, Cs., Nagy, Zs., Szabó, J. [Genetic and epigenetic factors of polycystic ovary syndrome]. Orv. Hetil., 2016, 157(32), 1275-1281. Rövidítések ACTH = adrenokortikotrop hormon; AEPCOS = Androgen Excess and PCOS Society; AR = androgénreceptor; CAG repeat = citozin-adenin-guanin ismétlődés; FSH = folliculus stimulating hormone; FTO = alpha-ketoglutarate-dependent dioxygenase; GnRH = gonadotropin releasing hormone; GWAS = genome-wide association studies; INSR = inzulinreceptor-gén; LH = luteinizáló hormon; NIH = National Institutes of Health; PCOS = polycystás ovarium szindróma; SHBG = szexhormonkötő globulin; SNP = single nucleotide polymorphism; SRDA = szteroid-5-α-reduktáz A polycystás ovárium szindróma (PCOS) definíciója a szindróma 1935-ös, Stein és Leventhal általi leírása óta a gyarapodó ismeretanyag ellenére a mai napig sem tisztá-zott. PrevalenciaA PCOS-t az egyik leggyakrabban előforduló endokrin betegségnek tartják a reproduktív korú nők körében [1][2][3]. Pontos előfordulási gyakoriságát nem egyszerű meg-

show abstract

Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome

Cited by 36 publications

References 18 publications

The adrenal and polycystic ovary syndrome

The adrenal and polycystic ovary syndrome

Polymorphism T→C of gene CYP17 promoter and polycystic ovary syndrome risk: A meta-analysis

Genetikai és epigenetikai faktorok polycystás ovarium szindróma esetén

Contact Info

Product

Resources

About