Methodology: This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.
Results: Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ≥2 years were short irrespective of karyotype.
Conclusion: Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.
CASE PRESENTATION: A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c.890G>A (p.Gly297Asp), initially classified as variant of uncertain significance. Eleven family members (7 adults and 4 children) with and without diabetes across 3 generations were genotyped. The variant co-segregated with diabetes or prediabetes across 3 generations of the family. The variant is reclassified as likely pathogenic according to standard guidelines.
CONCLUSIONS: Genetic testing is essential to confirm PAX4-MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients.
METHODS: This is a retrospective multicenter study involving new onset T1DM paediatric patients in Klang Valley, Malaysia during two time periods ie 18th September 2017-17th March 2020 (pre-pandemic) and 18th March 2020-17th September 2022 (pandemic).
RESULTS: There was a total of 180 patients with new onset T1DM during the 5-year study period (71 pre-pandemic, 109 pandemic). An increase in frequency of T1DM was observed during the pandemic (52 in 2021, 38 in 2020, 27 in 2019 and 30 in 2018). A significantly greater proportion of patients presented with DKA (79.8 % vs 64.8 %), especially severe DKA (46.8 % vs 28.2 %) during the pandemic. Serum glucose was significantly higher (28.2 mmol vs 25.9 mmol/L) with lower venous pH (7.10 vs 7.16), but HbA1c was unchanged.
CONCLUSIONS: New onset T1DM increased during the pandemic, with a greater proportion having severe DKA. Further studies are required to evaluate the mechanism leading to this rise to guide intervention measures.