Successful ART outcome with donor oocytes in female Kartagener's syndrome: a case report and follow-up.

A 30-year-old woman presented with history of primary infertility of 8 years and multiple failed intrauterine insemination (IUI) attempts. She had the classic symptoms of Kartagener's syndrome-situs inversus, chronic sinusitis, and bronchiectasis. She had polycystic ovarian disease (PCOD) with regular menstrual cycles. Her karyotyping was normal. There was no other significant history including surgeries and the marriage was non-consanguineous. Her partner was 34 years old with normal semen and hormonal parameters. Her first intra-cytoplasmic sperm injection (ICSI) cycle with her own oocytes and husband's sperm resulted in a pregnancy but she suffered a miscarriage at 11 weeks. Her second attempt with donor oocytes and husband's sperm resulted in a pregnancy again but she miscarried at 9 weeks. The third attempt with a frozen embryo transfer with supernumerary embryos resulted in a pregnancy and she delivered a live female baby who was followed up for 8 years. This is the first report of a patient with KS undergoing assisted reproduction technologies (ART) treatment with donor oocytes. This is also the first Indian report of a female KS patient undergoing ART treatment with donor oocytes. IUI may not be the ideal treatment option in female patients with KS.

Association of GWAS identified INSR variants (rs2059807 & rs1799817) with polycystic ovarian syndrome in Indian women.

Polycystic ovary syndrome (PCOS), a gynaecological endocrine disorder affects 9% of Indian women and is linked to type II diabetes. The association of INSR (INSulin Receptor gene) variants (rs2059807 and rs1799817) with PCOS was established through genome-wide association studies, yet requires validation for the Indian population. This case-control study included 253 PCOS women and 308 age-matched control. The minor allele frequency of rs2059807 had an odds ratio of 13.5 and that of rs1799817 was 11.8. The cohort with rs2059807 MAF presented elevated levels of luteinising hormone [PCOS vs Control: 6.32 ± 2.26 mIU/mL vs 4.97 ± 3.27 mIU/mL], estradiol [116.01 ± 60.63 pg/mL vs 65.04 ± 44.98 pg/mL], and decreased HDL - C [50.4 ± 11.59 mg/dL vs 64 ± 15.49 mg/dL] showing disturbances in the hormonal patterns. The rs1799817 polymorphism cohort had elevated levels of serum insulin [17.99 ± 11.6 mIU/mL vs 11.67 ± 6.63 mIU/mL], blood glucose [199.15 ± 63.72 mg/dL vs 96.6 ± 24.3 mg/dL], and testosterone [0.91 ± 0.2 nmol/L vs 0.53 ± 0.16 nmol/L] thereby triggering metabolic dysfunction and predisposed to lifestyle disorder. Also, the SNPs were found to be in linkage equilibrium and contributed to the development of PCOS differentially.