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Objectives: The importance of knowing HIV status is a key strategy for HIV response and effective treatment services. The present study aimed to assess feasibility of using oral-fluid based rapid HIV test aided by FrontlineHealth workers (FLWs) of pregnant women in rural districts of India.Methods: A feasibility study, using cross sectional design was carried-out in two rural districts of India. Overall, 900 pregnant women were screened using OraQuick® test, an oral-fluid based rapid HIV test facilitated by trained FLWs and subsequently, all participants were tested at in existing government center for confirmatory HIV testing. The data were collected from three aspects: i) the results of OraQuick® HIV test and confirmatory test ii) the perspectives of FLWs through in-depth interviews and iii) information on the acceptability of oral-fluid based HIV testing from 479 pregnant women, through a structured questionnaire. The descriptive statistics was used to analyse the quantitative data and thematic content analysis to analyse the qualitative in-depth interviews. Results:Of the 947 pregnant women who were offered HIV screening using OraQuick® saliva based test, 95% (n=900) accepted to undergo the test. Of the total 479 pregnant women interviewed, 91.2% liked the OraQuick® kit for HIV screening. The key motivators of accepting the test are easy procedure (43%), non-invasiveness (29%) and quick access to results (18%). Out of 900 pregnant women screened by OraQuick®, nine women were found to be HIV positive, which corresponded with confirmatory test results. Qualitative data provided insights into FLWs to understand their views regarding current situation on HIV testing and services available to the pregnant women. Conclusion:With an urgent need to improve access to HIV screening at the grass root level, an oral based HIV rapid testing mechanism can provide a plausible solution for improving early detection of HIV among pregnant women.

The SRY initiates cascade of gene expression that transforms the undifferentiated gonad, genital ridge into testis. Mutations of the SRY gene is associated with complete gonadal dysgenesis in females with 46,XY karyotype. Primary amenorrhea is one of the clinical findings to express the genetic cause in 46,XY sex reversal. Here, we report a 26‐year‐old married woman presenting with primary amenorhea and complete gonadal dysgenesis. The clinical phenotypes were hypoplastic uterus with streak gonad and underdeveloped secondary sexual characters. The cytogenetic analysis confirmed 46,XY sex reversal karyotype of a female. Using molecular approach, we screened open reading frame of the SRY gene by PCR and targeted DNA Sanger sequencing. The patient was confirmed with nucleotide substitution (c.226C>A; p.Arg76Ser) at in HMG box domain of SRY gene that causes 46,XY sex reversal female. Mutation prediction algorithms suggest that alteration might be disease causing mutation and mutated (p.Arg76Ser) amino acid deleteriously affects HMG box nNLS region of SRY protein. Clinical phenotypes and in silico analysis confirmed that missense substitution (p.Arg76Ser) impaired nNLS binding Calmodulin‐mediated nuclear transport of SRY from cytoplasm to nucleus. The mutation affects down regulation of male sex differentiation pathway and is responsible for 46,XY sex reversal female with gonadal dysgenesis.

Spermatogenesis is regulated by complex tissue specific gene expression in the testis to achieve normal male fertility. X‐chromosome specific TATA binding protein (TBP)‐associated factor 7L (hTAF7L) is one of the transcriptional regulator genes considered essential for spermatogenesis. The aim of this study was to evaluate the role of variants/mutations in the testis‐specific hTAF7L gene in non‐obstructive azoospermia and severe oligozoospermia male infertility. We studied 156 idiopathic non‐obstructive azoospermic, severe oligozoospermic infertile males and 50 fertile proven controls. Infertile males and control subjects were genotyped for variants of the hTAF7L gene using polymerase chain reaction and a direct Sanger sequencing approach. The odds ratio evaluated the association of hTAF7L gene variants with idiopathic male infertility. The variants found in the hTAF7L gene were subjected to an in‐silico analysis study. In infertile study subjects, we observed 11 single base pair nucleotide changes at various exons and three frameshift variants at exon 10 in the hTAF7L gene. We also found more than one variant in some non‐obstructive azoospermia and severe oligozoospermia infertile males along with control subjects. All these variants changed the amino acid sequences in the hTAF7L gene. However, similar changes were also seen in fertile subjects, and the differences were not statistically significant. In‐silico tools also predicted that the variants were likely to be benign. The variants in cDNA of the hTAF7L gene were typical SNPs. It is found that the hTAF7L gene is highly polymorphic and these missense variants are not directly associated with male infertility. However, we feel that more studies are needed to elucidate the role of multiple variants of the hTAF7L gene in the process of normal spermatogenesis.