Genetic factors in common disorders of female infertility

2000 ◽  
Vol 8 (3) ◽  
pp. 173-202 ◽  
Author(s):  
JL Simpson
Keyword(s):  
Premature Ovarian Failure ◽  
Genetic Factors ◽  
Ovarian Failure ◽  
Female Infertility ◽  
Gonadal Differentiation ◽  
Polycystic Ovarian Disease ◽  
Ovarian Disease ◽  
Current Contribution ◽  
Common Causes ◽  
Gonadal Failure

Female infertility results from a myriad of causes – genetic and nongenetic. Sometimes a genetic aetiology is clearly evident. In other disorders heritable tendencies exist, but the precise genetic aetiology remains obscure. In this communication we shall consider the genetics of selected common causes of female infertility: premature ovarian failure; leiomyomata; polycystic ovarian disease; endometriosis. Not discussed here are disorders of gonadal differentiation primarily causing gonadal failure and disorders of female internal ducts, both considered elsewhere by the author and colleagues. The current contribution inevitably mirrors these other publications.

scholarly journals Explained infertility among the couple attending the infertility unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Bangladesh

2015 ◽  
Vol 23 (1) ◽  
pp. 114-120
Author(s):  
Arifa Sultana ◽  
Shaorin Tanira ◽  
Sanchita Adhikary ◽  
Kashfia Ahmed Keya ◽  
Sayeba Akhter
Keyword(s):  
Semen Analysis ◽  
Ovarian Dysfunction ◽  
Male Factor ◽  
Cross Sectional ◽  
Polycystic Ovarian Disease ◽  
Ovarian Disease ◽  
Tubal Occlusion ◽  
Fibroid Uterus ◽  
Common Causes ◽  
Medical University

Context: The causes of infertility vary from country to country among different cultural, environmental and socio economic groups. The aim of the study was to explain the causes of infertility among the couple attending infertility unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Bangladesh and to compare with previous studies of both local and abroad. Methods: This cross sectional study was carried out between September 2007 and March 2008 at infertility unit of BSMMU Hospital, Dhaka, among 110 couples, who had tried unsuccessfully for more than one year to reproduce. The data included history, physical examination and relevant investigations for female partners and male partners. Results: The age group of 25-30 years was the most vulnerable as they represented 52% of primary and 51.42% of secondary infertility. Among the 110 subfertile couples, 43.63% had female factor problems; 20% were suffering from male factor problems. In 21.81% of cases both male and female were responsible. In 14.54% cases, there were no causes, and, therefore, remain unexplained infertility. Among women, primary subfertility was 68.18%, secondary subfertility was 31.81% and among men, it was 79% and 21% respectively. Most of the infertile couples (43.64%) were trying for 2-5 years. In this study, most common cause was ovarian dysfunction (33.63%). Among them, anovulation with regular menstruation was found in 60%, polycystic ovarian disease in 32%, hyperprolactinaemia in 16% cases. Bilateral tubal occlusion was found in 8% and pelvic adhesions in 24% by doing laparoscopy. In addition, 10% of patients had endometriosis. Fibroid uterus was found in 26% cases. Among the primary subfertility cases, common causes were anovulation with regular menstruation (14.66%) and polycystic ovarian disease (12%). 40% of secondary subfertility was related with menstrual regulation (MR). Among male factors, azoospermia was found in 6.36% cases, oligozoospermia in 10.9% cases, asthenozoospermia 18.18%, teratozoospermia was in 6.36% cases. Conclusion: Primary subfertility cases were more common than secondary subfertility cases. Ovarian dysfunction was the common causes of subfertility. Other factors were abnormal semen analysis, endometriosis, tubal occlusion, pelvic adhesions and fibroid uterus. DOI: http://dx.doi.org/10.3329/jdmc.v23i1.22705 J Dhaka Medical College, Vol. 23, No.1, April, 2014, Page 114-120

scholarly journals Genes involved in human premature ovarian failure

2010 ◽  
Vol 45 (5) ◽  
pp. 257-279 ◽  
Author(s):  
Luca Persani ◽  
Raffaella Rossetti ◽  
Chiara Cacciatore
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Follicles ◽  
Ovarian Failure ◽  
Primary Ovarian Insufficiency ◽  
Female Infertility ◽  
Genetic Component ◽  
Genetic Defects ◽  
Ovarian Insufficiency ◽  
End Stage

Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40 years, representing one major cause of female infertility. POF relevance is continuously growing because women tend to conceive ever more frequently in their thirties and forties. POF can present very early with a pubertal defect. More frequently, it is the end stage of an occult process (primary ovarian insufficiency, POI) affecting ∼1–2% of under-40 women. POI is a heterogeneous disease caused by a variety of mechanisms. Though the underlying cause remains unexplained in the majority of cases, various data indicate that POI has a strong genetic component. These data include the existence of several causal genetic defects in humans, experimental and natural models, as well as the frequent familiarity. The variable expressivity of POI defect in women of the same family may indicate that, in addition to some monogenic forms, POI may frequently be considered as a multifactorial defect resulting from the contribution of several predisposing alleles. The X chromosome-linked defects play a major role among the presently known causal defects. Here, we review the principal X-linked and autosomal genes involved in syndromic and nonsyndromic forms of POI with the wish that this list will soon become upgraded because of the discovery of novel contributing mechanisms. A better understanding of POI pathogenesis will indeed allow the construction of tests able to predict the age of menopause in women at higher risk of POI.

scholarly journals AYURVEDA INTERVENTION IN FEMALE INFERTILITY DUE TO OVARIAN FACTOR - A CASE REPORT

2020 ◽  
pp. 69-72
Author(s):  
Upasana Sharma ◽  
Sushila Sharma
Keyword(s):  
Case Report ◽  
Female Infertility ◽  
Polycystic Ovarian Disease ◽  
Unprotected Sexual Intercourse ◽  
Ovarian Disease ◽  
Text Word ◽  
Hormonal Dysfunction ◽  
One Year ◽  
The One ◽  
Female Baby

Infertility is defined as inability of a couple to conceive after one year of regular unprotected sexual intercourse. Incidence of ovarian dysfunction in the form of Polycystic ovarian disease (PCOD) has become a leading cause of female infertility in today’s era. Polycystic Ovarian disease (PCOD) is a heterogeneous, multifactorial and polygenic endocrinal disorder. Acharya Sushrut explained about Bandhya Yonivya pada where Nashtartava is mentioned as the one and only symptom. In Ayurveda text word Aartava has been used extensively in different contexts; menstrual blood, ovum and ovarian hormones. Therefore Amenorrhea, anovulation, hormonal dysfunction can be considered as visible manifestations of Nashtartva. So, here an attempt has been made to explore Samshodhan (Virechan) as a possible line of treatment for Bandhya (Nashtartava). Material and method: Following is a case report of a female who was anxious to conceive after 4 years of active married life, along with H/O delayed menses.  Her USG reports showed polycystic appearance of ovaries and anovulation was noticed in follicular study. During this case study evaluation of Shodhan therapy (Virechan) and Shaman therapy in infertility due to ovulatory dysfunction was done. Result: Before the treatment patient was a known case of infertility due to PCOD and after treatment she conceived and delivered a healthy female baby. Discussion: Line of treatment was to enhance potency of ovum and with the help of Virechankarma, regularize vitiated Vata Dosha, Shrotoshuddhi and Aartava janan. Conclusion: Ayurveda therapy can be used in patients of infertility due to PCOD for better outcome and no adverse drug effect was noticed.

Study on Causes of Female Infertility at National Ayurveda Teaching Hospital, Borella, Sri Lanka: A Survey Based Study

2017 ◽  
Vol 3 (1) ◽  
pp. 249-252
Author(s):  
Farzana MUZN ◽  
Arshiya Sultana
Keyword(s):  
Sri Lanka ◽  
Teaching Hospital ◽  
Married Women ◽  
Female Infertility ◽  
Policy Makers ◽  
Complex Disorder ◽  
Anovulatory Cycle ◽  
Common Causes ◽  
Increasing Trend ◽  
One Year

Background: Infertility is defined as the inability to conceive after at least one year of unprotected intercourse. It is a complex disorder with significant medical, psychosocial, and economic problems. In about one third of couples are infertile. Approximately 167 million married women aged 15-49 years in developing countries were infertility. The present study aimed to determine the most common causes of female infertility in patients who visiting the National Ayuvedic Teaching Hospital, Borella, Sri Lanka. Methods: In this study 635 infertile (primary and secondary) women were selected to determine the causes of infertility. The subjects were selected from the gynecology clinic, between the periods of February 2015 to March 2016. The data were gathered using a questionnaire; and after that proper statistical method was applied to analyze the data. Results: From the results age between 28-37 years (37.16%) are more prevalent to infertility and the causes of infertility are mainly due to anovulatory cycle (31.18%) and menstrual irregularities (19.21%). BMI also one of the significant cause for infertility. Conclusion: Therefore, identifying the risk factors and proper treatment on time along with policy makers providing facilities to resolve the infertility could possible diverse this alarming increasing trend of infertility.

EPIGENETIC ALTERATIONS ASSOCIATED WITH PREMATURE OVARIAN FAILURE

2008 ◽  
Vol 31 (4) ◽  
pp. 11
Author(s):  
Manda Ghahremani ◽  
Courtney W Hannah ◽  
Maria Peneherrera ◽  
Karla L Bretherick ◽  
Margo R Fluker ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Premature Ovarian Failure ◽  
Promoter Region ◽  
Gene Promoter ◽  
Ovarian Failure ◽  
P Value ◽  
Epigenetic Alterations ◽  
Methylation Array ◽  
Cpg Sites ◽  
Deficient Mice

Background/Purpose: Premature ovarian failure (POF) affects 1% of women with a largely idiopathic and poorly understood etiology. The objective of this study was to identify specific epigenetic alterations by measuring DNA methylation of gene regulatory regions in women with POF vs. controls. Methods: Blood samples were collected from idiopathic POFpatients (Amenorrhea for at least 3 months and 2 serum FSH levels of > 40mIU/ml obtained > 1 month apart prior to age 40) and control women (CW) (healthy pregnancy after age 37 with out a pregnancy loss). Genomic DNA was extracted from EDTA anticoagulated blood and bisulfite converted for analysis using the Illumina Golden Gate Methylation Panel which measures DNA methylation at 1506 CpG sites in the promoter regions of 807 genes in 10 POF and 12 CW. Candidate genes with altered epigenetic marks between POF and CW at a nominal P-value < 0.05 were identified using a t-testcomparison within the Illumina bead studio software. Genes of interest were further analyzed for quantitative methylation at specific CpG sites using pyrosequencing in 30 POF and 30 CW. Results: Comparison of DNA methylation profiles of our initial POF and CW groups identified several genes with statistically significanthyper- or hypo- methylation in the POF group (P < 0.05), including the Androgen Receptor (AR)promoter region, which was significantly hypermethylated. To further validate these results, DNA methylation of the AR gene promoter was quantified bypryosequencing in a larger group of POF and CW. Pyrosequencing further confirmed a significantly higher DNA methylation of the AR promoter region inPOF vs. CW (P=0.007). Conclusions: This is a novel study identifying epigenetic alterations in POF. The hypermethylation of the AR gene in POF patients may cause decreased level of the AR in these women. This is especially interesting given a recent report of induced POF in AR deficient mice^1. Specific epigenetic markers, as identified by DNA methylation array profiling in blood, may serve as useful biomarkers for POF and other fertility disorders. However, it will need to be determined if these methylation changes are present prior to diagnosis, or are a consequence of menopause itself. Reference: 1.Hiroko S. et al. Premature ovarian failure in androgenreceptor deficient mice. PNAS;103:224-9

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