Androgen receptor gene mutations in 258 Han Chinese patients with polycystic ovary syndrome

Tian, Lifeng; Zou, Yang; Tan, Jun; Wang, Yaoqing; Chen, Jia; Xia, Leizhen; Xu, Lina; Chen, Ge; Wu, Qiongfang; Huang, Ouping

doi:10.3892/etm.2020.9463

Cited by 9 publications

(6 citation statements)

References 34 publications

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“…The mother of this patient stated no family history of AIS, however, for several years, she had been diagnosed as PCOS, the onset of which was speculated, in a recent research, to be caused by aberrant expression of AR originated from AR gene mutations among Han Chinese patients with PCOS. So it can be basically determined that this case is caused by gene mutation [14]. Due to the obvious genetic tendency of AIS, for patients with definite diagnosis, their family members should also perform relevant gene testing early, to identify family members carrying pathogenic genes.…”

Section: Discussionmentioning

confidence: 99%

Complete Androgen Insensitivity Syndrome: A Rare Case with 47, XXY/46, XY Mosaic Karyotype and Literature Review

Yang¹,

Chun-ke²,

Hai-qi³

2022

Obstet Gynecol Cases Rev

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Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disease caused by the absence or defects of androgen receptor (AR). Due to the insensitivity to androgen, clinically, patients often manifest as sexual development disorder. According to the grade of the remaining AR function, AIS is classified as complete (CAIS), partial (PAIS) or mild (MAIS). A 14-year-old Chinese child, raised as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone; uterus and ovaries were absent. Karyotype confirmed a 47, XXY (12)/46, XY (88) mosaicism. She underwent gonadectomy and the postoperative pathology identified bilateral testicular tissue with atrophic seminiferous tubules and no signs of malignancy. She started on hormonal therapy after surgery. The clinical manifestations of CAIS are relatively insidious. Clinicians should master the characteristics of this disease, identify carefully, make a clear diagnosis, and then develop an individualized treatment plan, so as to improve the life quality of patients and reduce the occurrence of tumors as much as possible.

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Section: Discussionmentioning

confidence: 99%

Complete Androgen Insensitivity Syndrome: A Rare Case with 47, XXY/46, XY Mosaic Karyotype and Literature Review

Yang¹,

Chun-ke²,

Hai-qi³

2022

Obstet Gynecol Cases Rev

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“…AR receptor knockout causes damage to the hypothalamicpituitary-gonadal (HPG) axis, resulting in impaired follicular development 203 . In a study by Tian et al, a total of five heterozygous missense mutations (p.V3M, p.Q72R, p.S158L, p.S176R, and p.G396R) in the androgen receptor genes were observed in five out of 258 patients 204 . It was also found that the patients with the pathogenic mutations in the AR gene also had significantly lower estrogen levels on the day they received human chorionic gonadotropin injection 204 .…”

Section: Hyperandrogenismmentioning

confidence: 97%

An Update on the Genetics of Polycystic Ovary Syndrome

Sharma,

Jain,

Tripathi

et al. 2024

JER

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PCOS is a common endocrinopathy among women of reproductive age, with a worldwide prevalence of 8 to 13%, depending on the criteria used for diagnosis. It is characterized by a constellation of features, including oligo/anovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovarian morphology. PCOS is one of the common causes of female infertility. It is also associated with metabolic derangements, including obesity, insulin resistance, and compensatory hyperinsulinemia, which increase the likelihood of developing type 2 diabetes mellitus. Despite extensive research, the etiology of PCOS remains largely unknown. It seems likely that the hypothalamic-pituitary-ovarian axis dysfunction, partial folliculogenesis arrest, insulin resistance, and ovarian and adrenal androgen secretion may play a role in the pathogenesis of PCOS. Familial clustering of the cases of PCOS points to a genetic component linked with it. The initial genetic studies suggest an autosomal dominant pattern of inheritance of the disorder in some families; however, most studies support multifactorial origin. Since PCOS is a complex trait, the typical form of inheritance of PCOS follows a non-Mendelian pattern and involves complex genetic mechanisms. Studies involving linkage and association have suggested a connection between genetic variations and the risk of developing PCOS in certain families or populations. Through genome-wide association studies and next-generation sequencing techniques, several candidate genes have been identified that play a role in the etiopathogenesis of the disorder. Pathogenic variants of various genes such as INSR, IRS1, GHRL, LDLR, MC4R, ADIPOQ, UCP1, UCP2, UCP3, FTO, PCSK9, FBN3, NEIL2, FDFT1, PCSK9, CYP11, CYP17, CYP21, HSD17, STAR, POR, AKR1C3, AMH, AMHR2, INHBA, AR, SHBG, LHR, FSHR, FSH β, SRD5A, GATA4, THADA, YAP1, ERBB2, DENND1A, FEM1B, FDFT1, NEIL2, TCF7L2, etc. in some PCOS cases are linked as underlying etiologic associations. This review aims to provide insight into the current genetic knowledge about PCOS. Discovering the genetic factors and pathways involved in the disorder will help us better comprehend the underlying mechanisms of the disorder.

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“…Polycystic ovary syndrome (PCOS) is the most common endocrine disease in women of childbearing age [1] . It is characterized by chronic ovulation dysfunction and hyperandrogenemia, affecting 3.84% to 10.11% of women of childbearing age worldwide [2,3] . PCOS is often accompanied by risks of abdominal obesity, insulin resistance, metabolic disorders, and cardiovascular disease [4,5] .…”

Section: Introductionmentioning

confidence: 99%

“…[1] It is characterized by chronic ovulation dysfunction and hyperandrogenemia, affecting 3.84% to 10.11% of women of childbearing age worldwide. [2,3] PCOS is often accompanied by risks of abdominal obesity, insulin resistance, metabolic disorders, and cardiovascular disease. [4,5] Metformin is one of the most commonly used drugs in the treatment of PCOS at present.…”

Section: Introductionmentioning

confidence: 99%

The efficacy and safety of metformin combined with simvastatin in the treatment of polycystic ovary syndrome

Liu¹,

Shao²,

Xie³

et al. 2021

Medicine

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Background: Several previous randomized controlled trials (RCTs) evaluated the efficacy of metformin combined with simvastatin in the treatment of polycystic ovary syndrome (PCOS), yet the results of the researches are not consistent. It is necessary to conduct a meta-analysis to explore the efficacy and safety of metformin combined with simvastatin in the treatment of PCOS, to provide evidence supports for the treatment of PCOS.Methods: We searched PubMed, EMbase, Cochrane Library, China National Knowledge Infrastructure, Wanfang, and Chinese biomedical literature databases online to identify the RCTs evaluating the efficacy of metformin combined with simvastatin in the treatment of PCOS. Standardized mean difference (SMD) and 95% confidence interval (95% CI) were calculated to evaluate the synthesized effects.Results: Nine RCTs with a total of 746 PCOS patients were included. The synthesized results indicated that the combined use of metformin and simvastatin are more beneficial to reduce the total cholesterol (SMD -2.66, 95% CI -3.65 to -1.66), triglycerides (SMD -1.25, 95% CI -2.02 to -0.49), low density lipoprotein (SMD -2.91, 95% CI -3.98 to -1.84), testosterone (SMD -0.64, 95% CI -1.13 to -0.15), fasting insulin (SMD -1.17, 95% CI -2.09 to -0.26) than metformin alone treatment in PCOS patients (all P < .001), and there was no significant difference in the high density lipoprotein (SMD -0.05, 95% CI -0.56-0.46), luteinizing hormone (SMD -0.58, 95% CI -1.66 to -0.50), follicle stimulating hormone (SMD 0.41, 95% CI -0.78-1.59), prolactin (SMD -1.38, 95% CI -2.93-0.17), fasting blood sugar (SMD 0.23, 95% CI -0.52-0.97), and insulin sensitivity index (SMD -0.17, 95% CI -0.48-0.15) between experimental and control groups (all P > .05).Conclusions: Metformin combined with simvastatin is superior to metformin alone in the treatment of PCOS patients with more advantages in improving the levels of sex hormones, blood lipids, and blood sugar. However, the safety of this therapy still needs to be further explored in clinical studies with high-quality and large samples. Abbreviations: 95% CI = 95% confidence interval, FBS = fasting blood sugar, FIN = fasting insulin, FSH = follicle stimulating hormone, HDL = high density lipoprotein, LDL = low density lipoprotein, OR = odds ratio, PCOS = polycystic ovary syndrome, RCT = randomized controlled trial, SMD = standardized mean difference, T = testosterone, TC = total cholesterol, TG = triglycerides.

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Androgen receptor gene mutations in 258 Han Chinese patients with polycystic ovary syndrome

Cited by 9 publications

References 34 publications

Complete Androgen Insensitivity Syndrome: A Rare Case with 47, XXY/46, XY Mosaic Karyotype and Literature Review

Complete Androgen Insensitivity Syndrome: A Rare Case with 47, XXY/46, XY Mosaic Karyotype and Literature Review

An Update on the Genetics of Polycystic Ovary Syndrome

The efficacy and safety of metformin combined with simvastatin in the treatment of polycystic ovary syndrome

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