Infertility affects about 16.5% of adults in low- and middle-income countries, according to the World Health Organization, and represents a major global public health concern. Despite this burden, population-level estimates from South Asia remain limited.

The Indian Society for Assisted Reproduction (ISAR), Indian Fertility Society (IFS) and Academy of Clinical Embryologists (ACE) jointly recommend that non-invasive preimplantation genetic testing (niPGT) (whether using spent culture media or blastocoel fluid) should not be used in clinical practice at this time and does not recommend it for embryo ranking or selection for transfer in its present form. It has based this position statement on the following key considerations. (1) Diagnostic Accuracy: Current evidence indicates significant error rates, including unacceptably high false positives and false negatives, which undermine its reliability for clinical decision-making. (2) Clinical Efficacy: There is a lack of conclusive evidence that niPGT improves clinical outcomes such as implantation rates, pregnancy rates or live birth rates. The IFS, ISAR and ACE urge the medical and scientific communities to focus on research on niPGT to ensure its reliability and clinical applicability in the future.

46,XX male syndrome, also known as De la Chapelle syndrome, is a rare condition characterised by a discordance between chromosomal sex and male phenotypic presentation. This study investigates the genetic basis of sex-determining region of Y-gene (SRY)-positive 46,XX testicular disorders of sex development in three male patients presenting with primary infertility and signs of hypogonadism. All patients had azoospermia on semen analysis. Cytogenetic and molecular investigations, including conventional karyotyping, fluorescence in situ hybridisation and polymerase chain reaction, confirmed a 46,XX karyotype with SRY gene translocated onto the short arm of one X chromosome. Y chromosome microdeletion analysis revealed the complete absence of Azoospermia Factor a (AZFa), AZFb and AZFc regions, which correlates with the observed infertility. These findings highlight the role of SRY translocation in initiating the testicular development in 46,XX individuals, while the absence of AZF regions contributes to spermatogenic failure.