Genetic testing also plays a crucial role in the evaluation of RCM, providing definitive diagnostic confirmation and valuable prognostic information.9 Identifying pathogenic variants, such as those in the MYH7 gene, can guide personalized management strategies, risk prognostication, and family screening.10 Both our case and the report by Kulhari et al.8 emphasize the critical role of genetic mutations in the pathogenesis of RCM associated with paediatric AIS. Here, MYH7 is linked to androgen insensitivity syndrome.