46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation.

A child, who was reared as male, presented in his early childhood to the endocrine clinic with penoscrotal hypospadias which was noticed at birth. On examination, he had both gonads in the scrotal sacs with complete scrotal fusion, rugosities and chordee with a single opening. He had increased palmoplantar skin desquamation. As an initial part of the workup, karyotyping was done, which was 46,XX. To rule out the most common cause of 46,XX disorder of sex development (DSD) in phenotypical males (SRY - Sex Determining Region Y gene - translocation), fluorescent in situ hybridisation for SRY was done, which was negative. Whole exome sequencing revealed a homozygous loss of function mutation in the R-Spondin1 gene. Here we report a rare case of 46,XX DSD with loss of function mutation in the R-Spondin1 gene associated with skin abnormalities.

A study to evaluate the knowledge, vaccination status and acceptance of adult vaccinations against respiratory infections in patients with type 2 diabetes in South India.

Introduction: Respiratory infections like influenza and pneumococcus increase mortality, morbidity, hospitalisation risks and healthcare costs in people with type 2 diabetes which can be prevented by vaccinations. However, there is not much data regarding how many people with type 2 diabetes in India receive pneumococcal and influenza vaccinations. Methods: This is a cross-sectional study conducted between March 2022 to May 2022 at a tertiary care centre in South India. Patients were interviewed through face to face questionnaire regarding awareness, knowledge of influenza and pneumococcal infections, availability and need of vaccines, vaccination status and the possible reasons for not receiving vaccines. Results: A total of 388 patients were recruited in the study. Knowledge about influenza and pneumococcal infections were present only in 4.8% and 4.1% respectively. And 98.7% of patients had no awareness about the availability and need for vaccines. Only 0.5% and 0.7% of patients received influenza and pneumococcal vaccinations respectively. After counselling and spreading awareness, 76.2% of patients said that they would receive vaccination in the next visit. Also, 23.19% of the patients refused to take any vaccinations even after counselling. And 23.7% of patients feared complications after vaccinations. Conclusion: Pneumococcal and Influenza vaccination uptake rates are extremely low in people with type 2 diabetes in India. Urgent measures are required to increase the awareness in patients and healthcare workers about the availability, need for vaccinations and effectiveness of vaccines which would lead to improvement in vaccination rates.