Bangabandhu Sheikh Mujib Medical University

Primary Ovarian Insufficiency (POI), a significant cause of female infertility, involves premature ovarian dysfunction before the age of 40 and is influenced by genetic predispositions, autoimmune disorders, environmental factors, and metabolic changes. In this study, we employed Whole Exome Sequencing (WES) to explore genetic variations linked to POI in Bangladeshi women.

This study encompassed 30 Bangladeshi women aged 16 to 40 diagnosed with POI. The diagnosis was based on clinical criteria, including elevated Follicle-Stimulating Hormone levels and a history of at least four months of oligomenorrhea or amenorrhea. WES was performed on POI cases and used population specific internal cohort to filter out and identify genes impacting ovarian function. Subsequently, Sanger Sequencing was used to validate pathogenic or likely pathogenic variants.

We detected seven pathogenic variants in 23% of all POI cases (7/30) across six genes: Thyroglobulin (TG), Thyroid-Stimulating Hormone Receptor (TSHR), tubulin beta 8 class viii (TUBB8), PR/SET domain 9 (PRDM9), required for meiotic nuclear division 1 homolog (RMND1), and homologous recombination factor with OB-fold (HROB). Two novel likely pathogenic variants were identified, including a heterozygous frameshift variant in TG (p.H209Pfs11) and a heterozygous missense variant in TSHR (p.T1904C). Additionally, variants of uncertain significance were found in 63% (19/30) of the cases, with seven being novel. Incidental findings of pathogenic variants were observed in several genes, with Hemoglobin subunit Beta (HBB) being the most common.

This study highlights the utility of whole exome sequencing in identifying genetic risk factors for POI, suggesting that incorporating genetic screening into routine clinical practice could improve diagnostic and therapeutic strategies, particularly in regions lacking genomic data on this condition.

Understanding the influence of cultural practices on maternal health is crucial in addressing the nutritional challenges faced by pregnant women in rural Bangladesh. Despite improvements in maternal and child health indicators, food taboos remain prevalent, impacting nutritional and health outcomes of vulnerable populations. This qualitative study explored food taboos and factors related to their adherence or breaking, among rural pregnant women in Bangladesh, where a total of 90 participants, including 21 pregnant women, 23 mothers-in-law, 20 husbands, and 26 healthcare workers, were interviewed through 29 in-depth interviews and 11 focus group discussions. Nearly half of the participants adhered to food taboos, citing beliefs about their negative consequences on pregnancy and baby health. Commonly restricted animal source foods included white carp, trout, duck meat, and mutton, due to fears of convulsions, speech disorders, or undesirable traits in the baby. Raw papayas and pineapples were avoided due to beliefs they could cause miscarriage. Adherence to these taboos was related to the pregnant mother's desire to avoid harm to her child, preference for vaginal delivery, avoid financial stress of caesarean section, profound respect for her elders, early age at marriage, and primiparity. Factors enabling the breaking of food taboos included nutritional counselling by healthcare workers, increased family understanding of maternal nutrition, reduced reinforcement of taboos, and the lack of negative consequences from consuming tabooed foods. The findings underscore the need to use scientific evidence to challenge food taboos by enhancing nutritional counselling programmes and engaging family members and community elders to foster dietary changes for pregnant women.