Frequency and pattern of gynecological problems of adolescent girls attending outpatient department, department of obstetrics and gynecology, Bangabandhu Sheik Mujib Medical University, Bangladesh

Background: Adolescent is a stage of development tangent, like a bridge of childhood and adulthood. It is the healthiest age group of our society which is almost 20% of our total population. World health organization (WHO) defines adolescents are in the 10-19 year in age group. One of the major physiological changes that take place in adolescent girls is the onset of menarche, which is often associated with problems of irregular menstruation, excessive bleeding and dysmenorrhea.Methods: This cross-sectional observational study was carried out in 668 female adolescent aged 10-19 years irrespective of their marital status visiting the OPD of obstetrics and gynecology department of BSMMU. All data was analyzed using SPSS program version 22.0.Results: Results were expressed in frequencies or percentages. Of the 668 adolescent girls, 418 (62.6%) had different type of menstrual disorder. Of these 418 cases about 127 (30.38%) of them were a case of puberty menorrhagia, 109 (26.07%) cases were oligomenorrhoea and 91 (21.77%) were amenorrhea. Other presentations were pre-vaginal discharge, vulval itching, lower abdominal pain, dysuria, feeling lump in lower abdomen, mastalgia, feeling lump in the breast, discharge from breast, acne, hirsutism.Conclusions: This study shows more than half of adolescent girls are having menstrual disorder. Adolescent gynecology needs increased awareness and greater attention to improve the quality of their life. Setting up a separate adolescent clinic is necessary for efficient management of adolescent problem

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify clinically relevant CNVs, genes and their phenotypic characteristics in an ethnically underrepresented homogenous population of Bangladesh. Methods: We have conducted chromosomal microarray analysis (CMA) for 212 NDD patients with male to female ratio of 2.2:1.0 to identify rare CNVs. To identify candidate genes within the rare CNVs, gene constraint metrics [i.e., “Critical-Exon Genes (CEGs)”] were applied to the population data. Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) was followed in a subset of 95 NDD patients to assess the severity of autism and all statistical tests were performed using the R package. Results: Of all the samples assayed, 12.26% (26/212) and 57.08% (121/212) patients carried pathogenic and variant of uncertain significance (VOUS) CNVs, respectively. While 2.83% (6/212) patients’ pathogenic CNVs were found to be located in the subtelomeric regions. Further burden test identified females are significant carriers of pathogenic CNVs compared to males (OR = 4.2; p = 0.0007). We have observed an increased number of Loss of heterozygosity (LOH) within cases with 23.85% (26/109) consanguineous parents. Our analyses on imprinting genes show, 36 LOH variants disrupting 69 unique imprinted genes and classified these variants as VOUS. ADOS-2 subset shows severe social communication deficit (p = 0.014) and overall ASD symptoms severity (p = 0.026) among the patients carrying duplication CNV compared to the CNV negative group. Candidate gene analysis identified 153 unique CEGs in pathogenic CNVs and 31 in VOUS. Of the unique genes, 18 genes were found to be in smaller (<1 MB) focal CNVs in our NDD cohort and we identified PSMC3 gene as a strong candidate gene for Autism Spectrum Disorder (ASD). Moreover, we hypothesized that KMT2B gene duplication might be associated with intellectual disability. Conclusion: Our results show the utility of CMA for precise genetic diagnosis and its integration into the diagnosis, therapy and management of NDD patients