Family History Of Infertility Research Articles

Is Diet A Contributing Factor To Infertility?

Objective: To evaluate the effect of dietary trans-unsaturated fatty acids (TFAs) on ovulatory infertility in young unmarried females.Methods: This cross-sectional study was conducted from 1 august 2023 to 31 December 2023 at the Basic Medical Science Institute (BMSI), Jinnah Postgraduate Medical Center Karachi. All healthy unmarried females aged 15-25 were included in the study. Females with a family history of infertility, having existing comorbidity, history of irregular menstruation cycle or hormonal replacement therapy, were excluded. Based on the Food frequency questionnaire score, 300 subjects were divided into 3 groups, Group A were low trans fats Consumers (Score 0-170), Group B was moderate trans fats consumers(Score 171-340) and Group C were high trans fats consumers (Score 341-500). The analysis of results was carried out on SPSS Software version 22.Results: The study’s 300 respondents, who ranged in age from 16 to 25, had a mean age of 21.8 years. Fifteen per cent of those in group “A” had abnormal HDL, 22% had bad LDL, and 23% had abnormal TGA, while 17% had abnormal cholesterol. An abnormal TGA, abnormal HDL, abnormal LDL, and abnormal 31% of the participants in group “B” exhibited abnormal cholesterol levels. A significant correlation between oxidative stress and hormonal indicators was found in three groups: “A” (13%) had aberrant LH, “20%” had abnormal FSH, “11%” had abnormal serum estrogen, “10%” had abnormal serum progesterone, and “C” (49% had abnormal LH, FSH, estrogen, and progesterone). Food frequency questionnaire (FFQ ) scores had a 25% positive correlation with cholesterol, a 40% negative correlation with HDL, a 31% positive correlation with LDL, and a 39% positive correlation with biochemical and hormonal indicators.Conclusion: Trans fats diets significantly increase the risk of ovulatory infertility and reproductive failure in young females

Risk factors for infertility and barriers to treatment in Tanzania: a survey and medical records study

Background: The burden of infertility is serious for women in high-fertility countries.Objectives: We sought to identify demographic, behavioral/environmental, and reproductive risk factors for various infertility factors (i.e., ovarian, tubal, uterine/cervical, male/other) among women seeking infertility treatment in central Tanzania; to determine the association between pelvic inflammatory disease (PID) and tubal factor infertility (TFI); and to identify barriers to infertility treatment by women’s home regional zone.Methods: We conducted a cross-sectional survey of women seeking infertility treatment in Dodoma, Tanzania from January-March 2020. We surveyed 168 participants aged 18-49 years and reviewed their medical records to confirm infertility status and potential risk factors. We estimated prevalence ratios for factors associated with infertility using logistic regression. Treatment barriers were compared by women’s regional zone to see if barriers varied geographically.Results: The median age of participants was 32 years (range: 18-48). Infertility factors did not vary greatly by patient demographics, behavioral/environmental, or reproductive risk factors. Approximately 31.48% of women had PID diagnoses. Those with PID had 1.94 (95% CI: 1.30, 2.90) times the prevalence of TFI diagnosis as those with other infertility factors, after adjusting for age, pesticide use, alcohol use, age at sexual debut, prior obstetric events, and family history of infertility. Logistical barriers to treatment, such as time and cost, were more frequently reported than emotional, stigma, or other barriers, regardless of regional zone.Conclusions: PID was strongly associated with TFI after adjustment for confounders. Infertility treatment access due to cost remains a challenge in Tanzania.

Risk Factors and Clinical Patterns of Infertility in Couples: A Hospital-based Cross-sectional Study in Southern Khyber Pakhtunkhwa, Pakistan

Infertility is ranked as the fifth-leading cause of disability in the world's population under 60 years old, according to the World Health Organization, affecting an estimated 80 million people worldwide. This reproductive health disorder can be caused by various factors, including structural, biological, and congenital issues, as well as acquired and environmental variables. To investigate the prevalence and potential risk factors of infertility, a hospital-based cross-sectional study was conducted in district Kohat, Pakistan, from January to May 2021. A total of 120 infertile couples were recruited from the outpatient center at Liaquat Memorial Hospital, and their medical files were reviewed, followed by face-to-face interviews with both partners of each couple. Of the participants, 47.5% were suffering from primary infertility, while 52.5% were affected by secondary infertility. Female infertility was the most common form of infertility, affecting 49.16% of couples, followed by male infertility (15.83%), couples with both partners facing infertility issues (8.33%), and unspecified infertility (26.66%). The most frequent causes of male and female infertility were erection issues (48.27%) and hormonal imbalances (40.57%), respectively. Additionally, 46.34% of couples reported stress and anxiety, and 14.16% had a history of assisted reproductive technology. Furthermore, 18.3% of couples had a family history of infertility, with 77.27% of those affected being infertile females. Infertile couples were also assessed based on potential risk factors, including age difference, age at menarche, occupation, smoking, and BMI. These findings may aid in identifying the factors contributing to infertility among the population.

Prevalence of Infertility and its Associated Factors among the Eligible Couples of Central Kerala

Introduction: Infertility is a personal tragedy for millions of couples world-wide and has very definite physical, psychological and social implications. Objectives: To find the prevalence of infertility and to explore the association between selected clinical and sociodemographic factors with infertility in Arpookara Panchayat, Kottayam, Kerala. Method: A community based cross-sectional study was conducted among 860 eligible couples selected using simple random sampling technique, from all the 4 subcentre areas. Sociodemographic and medical/surgical details of both male and female partner were collected by semi-structured interview schedule. The couples were said to have infertility when they had either primary or secondary infertility. Pearson Chi-square test / Fisher’s Exact test was used to find the association of various factors with infertility. Results: The prevalence of infertility was 10.3%, with 5.6% primary infertility and 4.7% secondary infertility. Factors that were found significantly associated with infertility were couples belonging to lower socioeconomic status, joint family, women marry at age >35 years, diabetes mellitus in women, pelvic inflammatory diseases, uterine fibroids, polycystic ovarian syndrome, abdominal pelvic surgeries in women, varicocele, mumps in men, oligospermia, men with education level less than high school, smoking, alcohol and family history of infertility in men. Conclusion: One tenth of the population included in the study had infertility. The predictors for infertility were lower socio-economic class, number of years after marriage (5-9 years), smoking in men, oligospermia, varicocoele, mumps in men, age at marriage (≥35 years) in women, polycystic ovary syndrome, pelvic inflammatory disease and diabetes mellitus in women.

Letrozole vs clomiphene citrate in Sudanese patients with infertility secondary to polycystic ovary syndrome

PCOS is a cluster of metabolic, hormonal, and environmental factors coupled with infertility in patients within reproductive age. This cross-sectional study compared letrozole (LTZ) vs Clomiphene citrate (CC) as ovulation inducers in infertile Sudanese patients with PCOS. Follicles ≥18 mm and pregnancy tests were used for comparison. SPSS version 23 was used for analysis. Significance was calculated with Chi-square, t-test, and logistic regression. P ≤ 0.05 was considered significant.Our results showed 49% of the patients were 20–30 years old, 60% had secondary infertility 98.4% were secondary to PCOS and 64% had a family history of infertility. Comparable results on positive pregnancy tests of 26% (P ≤ 0.017) and 17% (P ≤ 0.027) were observed for LTZ vs CC respectively. Similar strengths (P ≤ 0.000) in compacting the ovarian cysts were recorded. LTZ showed less activity (P ≤ 0.013) on follicles size maturation compared to (P ≤ 0.000) with CC. The endometrial thickness was increased with LTZ (51.87%) but reduced with CC (25.54%). The positive pregnancy test was associated with age and BMI. ConclusionLetrozole 20 mg single dose showed comparable results on positive pregnancy tests but less significance on follicle maturation compared to CC100mg. Both drugs compacted the ovarian cysts’ sizes. letrozole significantly increased the endometrial lining thickness.

Characterization and risk factors for unexplained female infertility in Sudan: A case-control study.

Female infertility with unknown causes (unexplained) remains one of the mysteries in the reproductive health field, where the diagnostic evidence is still weak and the proposed treatments still work with unknown methods. However, several studies have proposed some possible causes and risk factors for unexplained female infertility. To characterize and identify factors associated with unexplained infertility in Sudanese women. A matched (age and body mass index) case-control study was conducted from March 2021 to February 2022. The study samples were 210 women with unexplained infertility (UI) and 190 fertile women of reproductive age who were attending the maternity hospitals and fertility clinics in Khartoum, Sudan. The risk factors of unexplained infertility were identified using a structured, pre-tested questionnaire containing information on socio-demographic variables, anthropometrics, clinical diagnosis of infertility, behavioral factors, physical activity assessment, diversity, and consumption of different food groups by the study participants. The results showed a higher proportion of women diagnosed with UI were residents of rural areas than controls (21.4% vs 11.1%, P < 0.05), and previous miscarriages and/or abortions were more common in fertile women compared with infertile women (13.16% vs 5.71%, P < 0.05). Additionally, infertile women had a significantly (P < 0.05) higher proportion of family history of infertility (explained and unexplained) compared with controls. Finally, after controlling for the effects of potentially confounding variables using multivariable logistic regression analysis, only marital status, family history of infertility, use of modern contraceptives, smoking, caffeine consumption, physical activity level, meals consumed, other vitamin-A-rich fruits and vegetables, and other vegetables were found to be significant (P < 0.05) factors associated with unexplained infertility among Sudanese women. Married women with a family history of infertility who smoke and consume a high amount of caffeine, who live a sedentary lifestyle, and who consume more than two meals free of vitamin-A-rich fruits and/or vegetables and/or other vegetables per day are at the highest risk of developing unexplained infertility.

A case of primary ovarian failure with Nijmegen Breakage a chromosomal instability syndrome

Abstract Introduction Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive chromosomal instability syndrome, characterized by dysmorphic facial features, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, combined immune deficiency, radiosensitivity, increased risk for cancer, as well as premature ovarian failure. Nibrin gene mutation is responsible for the pathogenesis of the disease. The mechanism of gonadal failure in NBS is thought to be meiotic arrest in gametocytes. Clinical Case A 23-year-old female was admitted to the Marmara University endocrinology outpatient clinic because of secondary amenorrhea. Her first menarche occurred spontaneously at the age of 13, but she has never bled again afterwards. In physical examination, blood pressure was 109/68 mmHg, pulse was 80/min, and temperature was 36°C. Her height was 163 cm, and weight was 67 kg, BMI: 25.6 kg/m2. Midfacial prominent appearance, micrognathia, microcephaly was observed. Breast was assessed for II stage in Tanner scale. Ferriman–Gallwey score was 5. Psychomotor development was natural, cognitive dysfunction was not observed. Her three siblings and aunt had a history of infertility, also her parents were third degree consanguineous. The patient stated that she had recurrent sinopulmonary infections and used several antibiotics since childhood. However, there was no hospitalization due to infection by now. Her two older sisters died due to cancer when they were 10 and 21 years old. The patient had primary ovarian insufficiency according to elevated serum gonadotropins concentration and low serum estradiol concentration (Table 1). The uterus was 50 mm in size, its contours were smooth, and the echo of myometrium was diffusely homogeneous. Bilateral ovaries were not observed in the suprapubic pelvic US examination. Karyotype analysis was performed that was found 46, XX. When considering her family history, facial dysmorphic appearance, and findings of primary ovarian failure, genetic analysis revealed NM_001024688.2 c.625C&amp;gt;T(p.Q209*) homozygous mutation. The patient was started on hormone replacement therapy (estrogen 2 mg once daily, dydrogesterone 10 mg once daily) after the diagnosis. Genetic counseling, immunodeficiency and malignancy screenings were performed. Interestingly, despite the history of recurrent infection, total Ig levels and vaccine responses were normal. Although no malignancy was observed in our case, it is noteworthy that two older sisters died due to cancer. It was recommended to continue the annual screenings. Conclusion Family history should be thoroughly questioned in patients presenting with hypogonadism. NBS should be kept in mind as a rare cause in the presence of a typical phenotypic appearance, recurrent infections, and a family history of infertility and malignancy.

The adverse and favorable obstetrical outcomes following bariatric surgery, retrospective study at King Abdulaziz University Hospital, Jeddah, Saudi Arabia

Background: Obesity poses a substantial health burden globally, increasing the risk of adverse maternal and perinatal outcomes in reproductive-age females. This study aimed to investigate the impact of bariatric surgery on adverse maternal outcomes in Jeddah, Saudi Arabia. Methods: A retrospective single-center study was conducted at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, between 2020 and 2023. The study included 48 out of 438 individuals aged 18-45, who underwent bariatric surgery and subsequently became pregnant. Exclusion criteria comprised patients with primary endometriosis, family history of infertility, uterine fibroids, endometrial tuberculosis, or incomplete data. Data related to the first pregnancy after bariatric surgery were collected and analyzed. Results: Among the 48 females studied, pregnancy complications included maternal anemia (54.2%), vitamin D insufficiency (35.4%), gestational diabetes (8.3%), and pregnancy-induced hypertension (4.2%). Modes of delivery comprised spontaneous vaginal delivery (62.5%), miscarriage (33.3%), and cesarean section (22.9%). The mean number of pregnancies after bariatric surgery was 1.58 ± 0.89, the mean age of patients after the first child&amp;apos;s birth post-bariatric surgery was 33.31 ± 5.54 years, the mean duration between bariatric surgery and conception was 4.05 ± 2.49 years, and the mean weight before pregnancy and weight gain during pregnancy were 67.69 ± 15.55 kg and 10.74 ± 683 kg, respectively. The mean weeks of gestation were 37.4 ± 4.51. Conclusion: This study highlights a significant relationship between bariatric surgery and the duration of conception. However, no significant association was observed between the type of bariatric surgery and pregnancy complications, mode of delivery, or outcome of the first pregnancy post-surgery. Further research is warranted to investigate the heterogeneity of bariatric surgeries by comparing their types and their effects on pregnancy and neonatal outcomes.

Hormonal status with Mucin4 gene expression in Iraqi infertile females

Infertility is a disease of the male or female reproductive system defined by the failure to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse. Infertility has numerous reasons, including genetic and hormonal variables, as well as definable factors. The Present study focuses on the gene expression of Mucin-4 and the relation with the hormonal state of Iraqi infertile females, and some demographic factors such as age, body mass index, family history of infertility. Present study included 72 female divided into: forty infertile women and thirty two fertile women. This study tested hormones: T3, T4 ,TSH, FSH, LH, Prolactin Testosterone, Estradiol. Fertile female revealed a significant increase in T4, FSH while both hormones revealed a significant increase in infertile females. Testosterone revealed a highly significant compared to the study group, studied gene expression by PCR. Gene expression for Mucin4 showed that there were no significant differences between infertile and fertile (p≥0.05), Therefore there is a negative association between mucin4 and infertility.

Association of the CYP17 and CYP19 gene polymorphisms in women with polycystic ovary syndrome from Punjab, Pakistan

Background Polycystic ovarian syndrome (PCOS) is considered the most common multifactorial endocrinopathy. Genetic factors play an essential role in the pathogenesis of PCOS. CYP 17 enzyme is responsible for androgenesis, while CYP 19 enzyme works for androgen conversion into aromatic estrogen. Several studies have reported their association with PCOS. This study was aimed to investigate the association of cytochrome P450c17α gene (CYP17) 5′-untranslated region MspA1/(rs743572) genetic polymorphism and rs2414096 of cytochrome P450 or aromatase (CYP19) gene polymorphism with the susceptibility to PCOS in reproductive-age women from Punjab, Pakistan. Methods We performed a case-control association study was conducted, including 204 PCOS patients and 100 controls. Genotyping of SNP rs2414096 (CYP 19 gene) and P450c17α gene (CYP17) 5′-untranslated region MspA1 was performed on genomic DNA using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis was performed to find out the association of phenotypic and genotypic characters in etiopathology of PCOS. Results The genotype distribution for CYP 17 5′-UTR MspA1 (TT, TC, CC) revealed that the frequency of genotype TC is significantly higher in PCOS patients (54.9%) vs. controls (OR 4.97, 95% CI 2.75–8.33, p<.001) (12%). The genotype distribution for CYP 19 (GG, GA, AA) showed significantly higher frequency of GA (58.%) and AA (23.5%) in patients as compared to cases (18% and 8%, respectively) (OR 5.49, 95% CI 3.61–8.34, p<.001). Body mass index (BMI), waist, hip, infertility and family history of infertility, PCOS, diabetes, and hypertension were found significantly associated with PCOS. CYP 19 genotypes were found significantly associated with PCOS patients having paraclinical traits of infertility and family history of infertility, while CYP 17 genotypes showed no significant association with any paraclinical traits in PCOS patients. Conclusions This is the first study on PCOS genotypes from Pakistan and results suggest that CYP 17 5′-UTR MspA1 (rs743572) (genotype TC) and CYP 19 gene (rs2414096) (genotype GA) polymorphisms are significantly associated with susceptibility to PCOS in Pakistani women having the traits of infertility and family history of hypertension.

SUN-204 Case of Non-Classic Congenital Adrenal Hyperplasia with Compound CYP21A2 Mutations Combined with CYP11B1 Mutation

Introduction:Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, caused by a deficiency in one of the enzymes involved in adrenal steroid synthesis. Homozygotes usually have a severe classical CAH phenotype. Heterozygotes, carrying only one abnormal copy of the gene, are thought to be generally asymptomatic, although could be associated with hyperandrogenism, decreased fertility, adrenal incidentalomas.21-hydroxylase deficiency (21OHD) accounts for 90% of all CAH cases, while 11 β-hydroxylase deficiency (11OHD) accounts for 4–8% of CAH cases.The nature and mechanism of a combined enzymatic defect are unknown. The coincidental presence of gene mutation for both 21OHD and 11OHD CAH in a single individual is very unlikely to occur.Clinical case:A 22-year old female with no significant past medical history presented to endocrinologist for evaluation of facial hirsutism.Patient had menarche at age 11, and menstrual cycle was regular since. No concerns for virilization of external genitalia. She was not sexually active, no pregnancies. No Family history of infertility or genetic conditions. Patient’s father was Jewish, and mother was Slavic.Physical examination revealed female phenotype, normal Blood pressure and BMI, acne on the back and upper arm, Ferriman-Gallwey hirsutism score 5. Labs: AM cortisol, CMP, CBC and TSH were normal. Total testosterone 68 ng/dL (2–45), free testosterone 7 pg/mL (0.1 - 6.4), FSH 5.7 mIU/mL (2.5–10.2), LH 10.6 mIU/mL (1.9–12.5), Progesterone 2.1 ng/mL (<1), Estradiol 51 pg/mL (19–144), 17-OH Progesterone 6728 ng/dL (45–285), Androstenedione 710 ng/dL (35–250), DHEA 1216 ng/dL (102 - 1185), 11-Deoxycortisol 204 ng/dL (<107), Pregnenolone 661 ng/dL(22–237), DHEAS 435 ng/dL (18–391).Elevated 11-Deoxycortisol level raised a suspicion for 11-OHD CAH, or adrenal vs ovarian hormone-producing mass.Abdominal CT and pelvic US were negative for adrenal or ovarian masses.3-day dexamethasone suppression test completely normalized all biochemical abnormalities the patient had.Genetic testing showed: CYP21A2 c.844G>T (non-classic 21OHD CAH mutation), CYP21A2 c.923dupT (classic 21OHD CAH mutation), CYP11B1 c.953C>G mutation.Thus diagnosis of non-classic 21OHD CAH, and carrier status of 11OHD CAH was made. She was started on oral Dexamethasone 0.25 mg every other day.11-Deoxycortisol elevation could not be explained by 21OHD alone. Her carrier state of the CYP11B1 mutation also cannot cause elevated 11-Deoxycortisol level.We hypothesize that 11-Deoxycortisol was elevated either from extra adrenal conversion of 17-hydroprogesterone to 11-Deoxycortisol, or from 11 β-hydroxylase inhibition by excess intra-adrenal androgens. Conclusion: Our case reports a rare finding of both CYP21A2 and CYP11B1 mutations in the same individual, which has implications for relatives, family planning and partner genetic screening.

SUN-069 A 14 Year Old Female with Primary Amenorrhea

Background: Swyer Syndrome is an extremely rare disorder of sexual development. These patients often present with primary amenorrhea during adolescence and are phenotypically female with 46 XY chromosomes. Given the association of invasive gonadal malignancies with this disorder, suspicion should be high in patients who present with a stagnant or decreased rate of pubertal progression. We present a case of Swyer Syndrome in a 14-year-old female with primary amenorrhea in the setting of decreased pubertal progression. Case: A 14-year-old female presents with a chief complaint of primary amenorrhea. She first noticed breast budding 2 years prior but reports no significant increase in breast tissue over the last 2 years. She does not appreciate any other signs of puberty. She denies any acne, body odor, hirsutism, hair loss, or abdominal/pelvic pain. She denies any changes in her diet or physical activity and is not on any medication. No history of cancer, surgeries, or radiation exposure. There is no family history of infertility or delayed puberty. Her vitals on presentation are within normal limits. Her growth parameters are the following: weight-69.9 kilos, height-163 cm, and BMI-26.3. Physical exam shows a well-appearing adolescent with grossly female external genitalia and the breast exam is SMR II. No pubic or axillary hair appreciated on the exam. Although our patient did not meet the traditional definition of primary amenorrhea, a workup was started due to the slow progression of puberty. Initial blood testing shows normal blood count, electrolytes and thyroid levels. DHEA-S androstenedione, free and total testosterone were all within normal limits. Further results such as LH (25.4 uIU/mL), FSH (56.5 mIU/mL) and estradiol (22 pg/mL) along with low levels of AMH (0.52 ng/mL) and inhibin A (1pg/mL) confirms suspicion for ovarian insufficiency. Chromosomal analysis and pelvic ultrasound findings of a small uterus and ovaries led to our diagnosis of Swyer syndrome. Our patient had surgical resection of both ovaries and fallopian tubes and the ovarian pathology showed gonadoblastoma with invasive dysgerminoma in both gonads. She was started on hormone replacement after gonadectomy. Conclusion: Although Swyer syndrome is uncommon with an incidence of 1 in 80,000, this case illustrates that suspicion for Swyer Syndrome should be high in patients with slow progression of puberty and primary amenorrhea (1). Early diagnosis is critical, as patients with gonadal dysgenesis are at great risk for germ cell cancers. Though most of these patients have an identifiable genetic mutation, we were unable to elicit the exact mutation in our patient despite whole-genome sequencing.

Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.

The dpy-19 like 2 (DPY19L2) gene is the most common genetic cause of globozoospermia characterised by the production of round-headed spermatozoa without an acrosome. The present study was performed on 63 men with globozoospermia and 41 normozoospermic individuals to evaluate the frequency of the DPY19L2 gene and exons; deletion and genetic changes in exons 1, 5, 7-11, 19, 21 and interval introns; and some epidemiological factors (e.g. varicocele, smoking, drug use, alcohol consumption and a family history of infertility). Homozygous deletion of DPY19L2 was identified in 35% of men with globozoospermia. Exon 7 was deleted in 4.8% of men with globozoospermia in which DPY19L2 was not deleted. No genetic variations were observed within the DPY19L2 exons examined, but five intronic polymorphisms were detected: 1054-77T>C in intron 9, 1131+65T>C and 1131+53A>G in intron 10 and 1218+22T>C and 1218+73T>C in intron 11. There were significant differences in the frequency of 1054-77T>C and 1218+22T>C polymorphisms between the globozoospermic and normozoospermic groups. In addition, there were significant differences between the two groups in sperm count, sperm motility, a history of infertility in the family and varicocele. Based on these findings, DPY19L2 deletion is the major cause of total globozoospermia and there is no association between exons 1, 5, 8-11, 19 and 21 polymorphisms of the DPY19L2 gene in the occurrence of this defect.

Corrigendum to: Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.

The dpy-19 like 2 (DPY19L2) gene is the most common genetic cause of globozoospermia characterised by the production of round-headed spermatozoa without an acrosome. The present study was performed on 63 men with globozoospermia and 41 normozoospermic individuals to evaluate the frequency of the DPY19L2 gene and exons; deletion and genetic changes in exons 1, 5, 7-11, 19, 21 and interval introns; and some epidemiological factors (e.g. varicocele, smoking, drug use, alcohol consumption and a family history of infertility). Homozygous deletion of DPY19L2 was identified in 35% of men with globozoospermia. Exon 7 was deleted in 4.8% of men with globozoospermia in which DPY19L2 was not deleted. No genetic variations were observed within the DPY19L2 exons examined, but five intronic polymorphisms were detected: 1054-77T>C in intron 9, 1131+65T>C and 1131+53A>G in intron 10 and 1218+22T>C and 1218+73T>C in intron 11. There were significant differences in the frequency of 1054-77T>C and 1218+22T>C polymorphisms between the globozoospermic and normozoospermic groups. In addition, there were significant differences between the two groups in sperm count, sperm motility, a history of infertility in the family and varicocele. Based on these findings, DPY19L2 deletion is the major cause of total globozoospermia and there is no association between exons 1, 5, 8-11, 19 and 21 polymorphisms of the DPY19L2 gene in the occurrence of this defect.

ROLE OF ENDOMETRIOSIS AS A RISK FACTOR FOR THE FEMALES WITH PRIMARY SUB-FERTILITY.

Objectives; To determine the role of endometriosis among women in cases of primary sub-fertility. Material and methods; A total of 169 women having primary infertility were included in this cross-sectional study which was done from January 2018 to May 2019 at Department of Obstetrics and Gynecology, Nishtar Hospital, Multan. Complete history was taken for age, duration of infertility, duration of marriage, sexual history, history of intake of contraceptive drugs, past medical/surgical history and if patients had taken any previous treatment for fertility issues. General physical as well as systemic examination were performed by a trained doctor along with pelvic examination. Baseline investigations like ESR, FSH, LH, serum prolactin levels were done. These study cases will undergo pelvic ultrasound and laparoscopy was performed in proliferative stages of menstrual cycle. Data was analyzed by using SPSS Version 20. Results; Mean age of our study cases was noted to be 28.92 ± 4.55 years (with minimum age was 22 years while maximum age was 38 years). Family history of infertility was noted in 33 (19.5%) of our study cases. Mean duration of marriage in our study cases was noted to be 4.33 ± 1.03 years. Mean BMI of our study cases was 22.21 ± 3.01 kg/m 2 (with minimum BMI was 18 kg/m 2 while maximum BMI was 32 kg/m 2 ). Our study results have shown that obesity was present in 36 (21.3%) of our study cases. In our study, endometriosis was seen in 27 (16 %) of our study cases. Stage 1 endometriosis was seen in 4 (2.4%), stage 2 endometriosis in 6 (3.6%), stage 3 endometriosis in 8 (4.7%) and stage 4 endometriosis in 9 (5.3%) of our study cases. Conclusion; Frequency of endometriosis was high in our study. Our study results indicate that it is a common gynecological problem which usually found in patients of young and reproductive age. Laparoscopy is a minimally invasive procedure which requires minimum time of hospitalization and minor post-operative discomfort in diagnosis of endometriosis. Laparoscopic procedures in women with infertility should be employed earlier as they are relatively less invasive, convenient and more accurate tool for diagnosis. There is a dire need to bring about awareness among infertile women to consult infertility clinics at proper time. It emphasizes the need to recognize the outcomes of laparoscopic procedures for management and diagnostic purposes. Keywords; Primary infertility, endometriosis, laparoscopy. DOI : 10.7176/JMPB/55-13 Publication date :May 31 st 2019

Prevalence of Primary Infertility and its Associated Risk Factors in Urban Population of Central India: A Community-Based Cross-Sectional Study.

Background:Primary infertility is a serious health issue that has profound socioeconomic and health implications on both the individual and society. Despite the important consequences of infertility, estimation of its prevalence is limited.Objective:The objective of the study is (1) to estimate the prevalence of primary infertility among women of reproductive age group in urban population of Central India and (2) to study its associated risk factors.Material and Methods:In a community-based cross-sectional study, all married women between 15 and 49 years of age in urban field practice area were included. The data were collected by face-to-face interview with the help of predesigned and pretested questionnaire.Results:The majority of the women (39.3%) belonged to 25–29 years of age group. The overall prevalence of primary infertility among reproductive age group women was 8.9% (51/570). Sociodemographic factors that had statistically significant association with infertility were age at marriage more than 25 years (P < 0.05), nuclear family (P < 0.05), higher education level (P = 0.04), employed women (P < 0.05), high socioeconomic status (P = 0.01), and family history of infertility (P < 0.05). Physiological factors that had statistically significant association with infertility were obesity (P = 0.03), age at menarche more than 14 years (P < 0.05) and irregular menstruation pattern (P < 0.05). Depression (P = 0.01) and stress (P < 0.05) were the psychological factors significantly associated with infertility.Conclusion:The prevalence rate of primary infertility in urban population of Central India was lower than reported trends of infertility from developing countries. Sound knowledge about various factors related to infertility can help health-care providers and policymakers to design and implement various policies.

İnfertil kadınlarda aile içi şiddet ve kaygı düzeyleri

Purpose: The aim of the study is to determine the frequency of domestic violence in infertile women, to review some associated variables and to evaluate anxiety level.Materials and Methods: The study group consisted of a total of 774 women (88.1%) admitted to the infertility outpatient clinic of the hospital and agreed to take part in the study. The questionnaire forms prepared by using the literature in line with the study objective were completed by the investigators with face-to-face interview method. The women who suffered from minimum one type of domestic violence at least once within last 1 year were regarded to have a “history of domestic violence”. The Beck Anxiety Inventory was used to assess anxiety level. Results: 116 (15.0%) infertile women in our study reported to suffer from domestic violence. The most frequently reported domestic violence type was emotional (56.1%) and sexual (21.9%). In our study, exposure to domestic violence was determined to be higher in women aged 25 years and above, with an education level of high school and above, with no job, with addiction of smoking and alcohol, with obesity, who got married more than once, whose first marriage age is 19 years and below, who are married for 4 years or below, with primary infertility, who are infertile for 2 years and below and with a family history of infertility. Anxiety levels of infertile women with a history of domestic violence were determined to be significantly higher.Conclusion: Domestic violence against infertile women is an important issue with regard to women health and in social terms. Treatment of infertile women enabling them to have children will affect their mental health positively.

Adolescent Girls with Pure Gonadal Dysgenesis: A Rare Disease

Gonadal dysgenesis is a rare cause of primary amenorrhoea ,which is a relatively common problem among teenage girls.Primary amenorrhoea occurs in patient with gonadal dysgenesis because of absence or limited ovarian function due to inappropriate development.Streak gonads are unable to produce estrogens and/or androgens,resulting in minimal to no development of secondary sexual characteristics.Adrenal androgens may induce production of pubic hair,but patient will have minimal breast development.These patients may have a family history of infertility, short stature,sensorineural deafness,ataxia,mild mental retardation or gonadoblastoma. Here two cases of primary amenorrhoea due to pure gonadal dysgenesis are presented. 1 st one was a 18yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of her worries about absence of menarche of her daughter and secondone was a 14yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of absence of secondary sexual characteristics as well as menarche of her daughter. In both cases, blood test showed very high levels of follicle stimulating hormone (FSH) &amp; luteinizing hormone (LH), low levels of oestradiol&amp; very low level of AMH. USG findings of both cases showed a bit hypoplastic uterus and volume of ovaries were smaller than normal. A diagnostic laparoscopy with biopsy of both gonads of one case was performed.Another case did not give consent for laparoscopy.Hormonal replacement therapy was applied on them for establishment of normal menstruation and menstruation was established in both cases. An early diagnosis is extremely important to prevent long term consequences of Gonadal dysgenesis.J Bangladesh Coll Phys Surg 2018; 36(4): 170-174

Risk factors of polycystic ovarian syndrome among Li People.

To study the relevant risk factors of polycystic ovarian syndrome (PCOS) of Li People so as to provide basis for early diagnosis and treatment of PCOS. With case-control study method, 285 cases of PCOS of Li People were as recruited case group, and 580 cases of non-PCOS of female Li People as control group. Questionnaire was adopted to collect data regarding risk factors of PCOS, then the risk factors of PCOS was searched by univariate and multivariate analysis. Multivariate analysis showed that the risk factors of PCOS included in menstrual cycle disorder (OR=5.824), bad mood (OR=2.852), family history of diabetes (OR=7.008), family history of infertility (OR=11.953), menstrual irregularity of mother (OR=2.557) and lack of physical exercise (OR=1.866). To target the high risk factors of menstrual cycle disorder, family history of diabetes, family history of infertility, family history of diabetes, bad mood and lack of physical exercise of female population, we should implement early screen, diagnose and treatment of POCS in order to reduce the incidence rate of PCOS and improve prognosis of PCOS.

Syndrome tremblement-ataxie lié à une prémutation de l’X fragile

The FXTAS syndrome (Fragile X-associated tremor/ataxia syndrome) is a specific neurodegenerative syndrome affecting subjects carrying a premutation of the FMR1 (fragile X mental retardation 1) gene. It affects mainly men with the premutation and aged more than 50 years. This syndrome is separate and distinct from the fragile X syndrome. The FXTAS syndrome remains underestimated today. It should be considered in patients older than 50 years with tremors and cerebellar ataxia, especially when Parkinson disease or cognitive disorders are present or when there is a family history of infertility, early menopause, or mental retardation. In these patients, hyperintense signals of mid-cerebellar peduncle images on T2 and FLAIR MRI justify genetic testing for the FMR1 premutation.