A cross-sectional study to assess any possible linkage of C/T polymorphism in CYP17A1 gene with insulin resistance in non-obese women with polycystic ovarian syndrome.

Background & objectives: Insulin resistance (IR) is a major confounding factor in polycystic ovarian syndrome (PCOS) irrespective of obesity. Its exact mechanism remains elusive till now. C/T polymorphism in the -34 promoter region of the CYP17 gene is inconsistently attributed to elucidate the mechanism of IR and its link to hyperandrogenemia in obese PCOS patients. In the present study we aimed to evaluate any association of this polymorphism with IR in non-obese women with PCOS. Methods: Polymorphism study was performed by restriction fragment length polymorphism (RFLP) analysis of the Msp A1 digest of the PCR product of the target gene in 75 PCOS cases against 73 age and BMI matched control women. Serum testosterone, BMI and HOMA-IR (homeostatic model of assessment-insulin resistance) were analyzed by standard techniques. A realistic cut-off value for the HOMA-IR was obtained through receiver operating characteristic (ROC) curve for exploring any possible link between IR and T/C polymorphism in the case group. Results: Significant increases in serum testosterone and HOMA-IR values were observed among the case group (P<0.001) without any significant elevation in BMI and FBG compared to controls. Cut-off value for IR in the PCOS patients was 1.40 against a maximum sensitivity of 0.83 and a minimum false positivity of 0.13. The analysis revealed an inconclusive link between the C/T polymorphic distribution and insulin resistant case subjects. Interpretation & conclusions: The results showed that CYP17A1 gene was not conclusively linked to either IR or its associated increased androgen secretion in non-obese women with PCOS. We propose that an increased sensitivity of insulin on the ovarian cells may be the predominant reason for the clinical effects and symptoms of androgen excess observed in non-obese PCOS patients in our region.

Neurotuberculosis mimicking brain tumour; A case report.

Summary: Neurotuberculosis is one of the grave complications of primary tuberculous infection. Extensive BCG vaccination of children and inadequate antituberculous drug therapy have led to the emergence of newer complex clinical pictures and diagnostic dilemma. Here we report a case of right-sided hemiparesis with features of raised intracranial tension in a sixyear- old boy. Neuroimaging revealed presence of a high grade astrocytoma. On clinical examination, right-sided cervical lymphadenopathy with discharging sinus and tenderness over right hip joint were present. On further investigation, these were proved to be of tubercular origin. All preliminary findings were in favour of disseminated tuberculosis, but the nature of CNS lesion was creating diagnostic dilemma. Etiological diagnosis of the CNS lesion was necessary, as, if it was not of tubercular origin, the management protocol would be different and with any delay we could have lost the patient. Though on routine CSF study, no AFB were present, but we confirmed the presence of mycobacterial DNA by polymerase chain reaction. Patient showed considerable improvement after being put on Anti-tubercular Treatment (ATT) and steroids. Tuberculous brain abscess is rare. Very few cases have been reported even in adults. Most reported cases are in immunocompromised patients. This case highlights the fact that tuberculous brain abscess can have atypical presentation even in immunocompetent children mimicking CNS malignancy. Careful examination and thorough investigation are required to establish the diagnosis. Timely initiation of appropriate therapy can reduce mortality and neurological sequelae.

Umbilical Myiasis in Newborn.

Umbilical myiasis is rare in newborns. We are reporting two cases of umbilical myiasis from rural West Bengal (India) that were infected by larval forms of blow fly (Chrysomya megacephala). One of them subsequently developed septicemia while the other one was clinically well.