OBJECTIVE: Infertility in women has various causes, one of which is ovulation disorders. Polycystic ovary syndrome (PCOS) affecting ovulation is a complex idiopathic disease in which genetic polymorphisms may be involved. This study aimed to investigate the relationship between IL-6 -174 G/C and IL-1A -889 G/A cytokine polymorphisms with polycystic ovary syndrome in a population of Iranian women.
METHODS: In this case-control pilot study, 120 PCOS patients (60 infertile, LPI, and 60 women with recurrent pregnancy abortion, LPA) and 60 controls, CTRLs) participated. After genomic DNA extraction from peripheral blood, we investigated for the polymorphisms rs1800795 of the IL-6 -174 and rs1800587 of the IL-1A-889 using specific primers and PCR-RFLP followed by NlaIII enzyme digestion and PCR-ARMS techniques.
RESULTS: There was a significant difference in the studied groups in terms of clinical characteristics (p-value < 0.05) except for the levels of HDL and LDL. Regarding demographic and clinical characteristics of patients, a significant correlation was observed between C/G and G/G genotypes of rs1800795 and FBS level (p value = 0.002). Also, rs1800587 showed a substantial relationship between CC and CT genotypes with the level of LH in LPI and the level of FBS in the LPAs (p value = 0.04). There was no significant difference between the frequencies of rs1800795 and frequencies of rs1800587 genotypes in the three studied groups (p value > 0.05).The studied variants were in Hardy-Weinberg equilibrium.
CONCLUSIONS: The present work showed that rs1800795 and rs1800587 were not directly associated with PCOS in Iranian patients while the SNPs showed an indirect relationship with some factors affecting the disease. However, using genome-wide association analysis is a proper suggestion to obtain more reliable information about the disease\'s genetic view. To our knowledge, this is the first report that implicates the role of the examined SNPs in an Iranian PCOS population.

OBJECTIVE: Ovarian hyperthecosis (OHT) is a rare cause of severe hyperandrogenism in the adolescent age group. We describe two case reports, and present an approach to management in this age group based on a review of the literature.
METHODS: Patient A presented at age 13 years with a 2 year history of androphonia and hirsuitism. Her testosterone level was elevated at 8.3 nmol/L, and there was marked enlargement of her ovaries bilaterally. There were no focal adrenal or ovarian lesions identified on imaging. She was treated with a gonadotropin releasing hormone (GnRH) agonist and spironolactone with biochemical and clinical improvement. Patient B presented at age 14 years with secondary amenorrhoea, and a 2 year history of androphonia, hirsutism and androgenetic alopecia. Her testosterone level was 12 nmol/L, and a pelvic ultrasound revealed numerous follicles in each ovary which were otherwise normal in size. She was managed with GnRH agonist initially, and now continues on a combined oral contraceptive pill.
CONCLUSIONS: Ovarian hyperthecosis needs to be considered in pre-menopausal women presenting with severe hyperandrogenism, after exclusion of androgen-producing adrenal and ovarian tumours. The principles of management in this age group are gonadotropin suppression and hormone replacement.

Polycystic ovary syndrome (PCOS) is a leading cause of infertility, with an estimated worldwide prevalence between 5% and 15%. We conducted a case-control study with 121 PCOS patients and 155 controls to assess the association between coffee intake and the presence of having a diagnosis of PCOS in women in Murcia, Spain. The PCOS diagnosis was determined following Rotterdam criteria (the presence of two of the following three conditions: hyperandrogenism, oligo-anovulation, and/or polycystic ovarian morphology). Coffee consumption was assessed using a validated food frequency questionnaire. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using multiple logistic regression. Coffee consumption was categorized into never, less than one cup per day, one cup per day, and two or more cups per day. We found a significant inverse linear trend: the higher the coffee consumption, the lower the probability of having PCOS in multivariable analysis (p-trend = 0.034). Women who presented with PCOS were less likely to drink one cup of coffee compared to those who had never drunk coffee (OR = 0.313, 95% CI: 0.141-0.69). The consumption of at least one cup of coffee per day may be associated with a decrease in PCOS symptoms.

Polycystic ovary syndrome (PCOS) is an increasingly recognized endocrine disorder. The pathogenesis is not fully known. Polycystic ovary syndrome is still difficult to diagnose correctly, despite simple diagnostic criteria. The aim of the study is to review the current knowledge about PCOS and treatment options for patients with the disease. To explore this topic, publications were reviewed and conclusions drawn from them. The incidence of hyperandrogenism in a patient with PCOS may be as high as 60-80%. Increased androgen levels affect ovulation and menstruation, and also result in hirsutism and acne. Additionally, patients have problems with proper glucose tolerance (insulin resistance), type 2 diabetes, hypertension, cardiovascular diseases and metabolic syndrome. PCOS results in various symptoms in patients.
The latest treatment methods were analysed. A standard review of publications in the field of diagnosis and treatment of PCOS, IR and hyperandrogenism was used.
Lifestyle, especially diet, deserves special attention due to its ease of use. Sleep quality, physical activity and stress reduction are also important. Diet should be the treatment of first choice. Only if dietary intervention does not bring results, the doctor considers pharmacotherapy. Recently, acupuncture and herbal medicine, vagus nerve stimulation have been used in the treatment of PCOS and regulation of hormone levels. Patients are given supplementation to improve the quality of functioning, but it must be remembered that inappropriate doses or too long use may result in a toxic effect opposite to the therapeutic one.
Appropriate diet, physical activity - lifestyle changes are crucial in the treatment of PCOS. Supplementation and pharmaceuticals support treatment. It is mandatory to examine these environmental and lifestyle factors as they not only contribute to the occurrence of the disease but also influence its progression.
Polycystic ovary syndrome (PCOS) is a complex metabolic and hormonal disorder that occurs in women. It manifests itself in menstrual disorders, changes in appearance related to excessive hair growth and acne. PCOS is also associated with the risk of other diseases, glucose tolerance (insulin resistance), type 2 diabetes, hypertension, cardiovascular diseases and metabolic syndrome. Polycystic ovary syndrome is still difficult to diagnose correctly, despite simple diagnostic criteria.The symptoms and course of the disease vary, specific to each patient. Patients struggle with PCOS, not being aware that it is a significant medical problem. The patients have always had problems with menstruation, so they think it is normal.The article reviews and describes various treatment methods: Hormone therapy, pharmacological methods, supplementation, non-pharmacological methods such as herbal medicine, acupuncture.

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UNASSIGNED: To highlight the challenges in diagnosing 46, XY disorder of sex development related to MYRF mutation.
UNASSIGNED: We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
UNASSIGNED: On examination, the patient\'s vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism. Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in MYRF. Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped internal genitalia and a persistent urachus. Her serum testosterone dropped to normal after surgical removal of the remaining ipsilateral testis and epididymitis without spermatogenesis as shown by pathology.
UNASSIGNED: Due to the karyotype, hyperandrogenism, empty pelvis but a virilism after puberty, the patient was initially diagnosed as partial AIS. This misleading clinical diagnose will not be verified as the MYRF mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.

We describe an unusual presentation of a rare Leydig tumor presenting in bilateral ovaries that are otherwise normal in size for postmenopausal women. A 66-year-old woman presented with postmenopausal bleeding and during her work-up acutely developed clitoromegaly. Her diagnostic work-up revealed a 1.8 cm left ovarian complex cyst and extremely elevated testosterone levels. Management included hysterectomy and bilateral salpingo-oophorectomy. Final pathology revealed Leydig tumors in the bilateral ovaries. This case discusses a rare presentation of a rare tumor and highlights the importance of a thorough examination of the female genitalia and investigation for root cause.

Polycystic ovarian syndrome (PCOS) is a prevailing endocrinopathy affecting a significant population of women of reproductive age across the globe. A myriad set of complex intertwined factors ranging from etiological, genetic, and epigenetic reasons cause this disorder. Out of the different factors, vitamin D shows an imperative aspect in health and fertility of women with polycystic ovary syndrome (PCOS). The importance of vitamin D is facilitated by vitamin D receptor (VDR), a ligand-dependent transcription factor in the steroid/ thyroid hormone receptor superfamily that controls the pleiotropic biological properties of vitamin D.
The purpose of this study was to evaluate the role of promoter methylation of the VDR gene, a transcription factor with numerous biological utilities, with its relative expression and clinico-pathological findings and outcomes.
A total of 200 blood samples were collected, 100 from PCOS case subjects, and 100 from the normal healthy controls respectively, which were assessed by qRT-PCR for determining the expression summary. MS-PCR technique was used for analyzing the promoter methylation status of the VDR gene. Blood samples were withdrawn, respectively, for each case and the control study separately experimented for different stages for the given study, of which estimation of vitamin D was also a part.
In this test-versus-control study, first, the promoter methylation status of VDR gene was identified which was found more prominent i.e., hyper-methylation of the VDR gene was identified in 84 cases (84%), and in the normal healthy controls, it was found (62%). The promoter methylation status of the VDR gene has remarkably shown the results with a significant difference (p value < 0.0001*). Second, the expression analysis of VDR gene was found to be strongly downregulated in majority (64%) of PCOS case samples analyzed by means fold change of 0.8743 (± 0.06466) (p value 0.0054**). This result is, therefore, indicative of VDR gene role in PCOS pathogenesis as the said gene is downregulated. Moreover, compared to the vitamin D parameter, hyper-methylation and expression analysis of the VDR promoter gene were found to correspond to some associations with PCOS. Certain case-and-control study analyses showed that patients with normal vitamin D levels showed less indicative effects of PCOS and vice versa.
Our study, being exclusive from Kashmir, one of the foremost specified that VDR confirms anomalous methylation configuration in PCOS with subsequent downregulation in the gene expression i.e., there is an inverse correlation among VDR gene expression (downregulated) and methylation status (hyper-methylated) from the conclusion of our PCOS case-versus-control study.

We report a case of a 55-year-old postmenopausal woman who presented with symptoms of fatigue, male pattern hair loss, and hirsutism over 3 years. Investigations showed elevated total testosterone levels of 5.0 nmol/L (1.44 ng/mL; range, 0.3-3.1 nmol/L) using Beckman-Unicel-DXI-800 immunoassay. Testosterone levels were repeated by liquid chromatography-tandem mass spectrometry and were found to be elevated at 7.3 nmol/L (2.10 ng/mL). Estradiol was detectable and free androgen index was elevated. Dehydroepiandrosterone sulfate levels and androstenedione were within normal range, suggesting a nonadrenal source. Computed tomography scan of the abdomen showed no evidence of adrenal or adnexal tumor. GnRH analog stimulation test led to reduction of gonadotrophins and normalization of testosterone within 4 weeks. She had a biopsy of a cranial hair follicle, which showed androgenic alopecia. These investigations confirmed an ovarian source of androgens. Subsequently, she underwent bilateral salpingo-oophorectomy. Histological study of gonadal tissue confirmed the diagnosis of ovarian hyperthecosis. Four weeks after oophorectomy, her testosterone levels normalized and clinical symptoms improved. Ovarian hyperthecosis is a rare cause of hyperandrogenism in postmenopausal women and can pose a diagnostic and therapeutic challenge. Careful history and physical examination along with critical analysis of biochemistry and imaging studies is crucial for correct diagnosis.

Hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN) syndrome is a special and rare subtype of polycystic ovarian syndrome. It can lead to hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN) accompanied by acne, hirutism, irregular menstruation, and other androgen excess symptoms. A case of pediatric HAIR-AN syndrome with severe AN was admitted to the Department of Endocrinology, China-Japan Friendship Hospital. The patient\'s clinical manifestations, laboratory data, imaging features, and gene sequencing were analyzed, and the patient was diagnosed with pediatric HAIR-AN syndrome. Obesity, IR, hyperglycemia, menstrual disorder, and AN were significantly improved after treating with metformin and liraglutide. HAIR-AN syndrome occurs in various forms. When the patient appears unexplained acanthosis nigricans and menstrual disorders, the disease should be considered possible. Early diagnosis and symptomatic supportive treatment can improve the quality of life.
高雄激素血症-胰岛素抵抗-黑棘皮病(hyperandrogenism-insulin resistance-acanthosis nigricans，HAIR-AN)综合征是多囊卵巢综合征的一种特殊且罕见亚型，可导致患者出现高雄激素血症(hyperandrogenism，HA)、胰岛素抵抗(insulin resistance，IR)和黑棘皮病(acanthosis nigricans，AN)的同时伴有痤疮、多毛症、月经不调等雄激素过多的症状。中日友好医院内分泌科收治1例以严重AN为表现的HAIR-AN综合征患者，对患者的临床表现、实验室资料、影像学特征、基因测序进行分析，明确诊断为儿童HAIR-AN综合征。予二甲双胍联合利拉鲁肽治疗后，患者的肥胖、IR、高血糖、月经不调、AN等情况均得到明显改善。HAIR-AN综合征的发病形式多样，当患者出现不明原因的黑棘皮及月经不调等表现，应考虑该病的可能。早期诊断和对症支持治疗可提高患者的生存质量。.