Turner syndrome (TS) affects approximately 1 in 2500 female live births globally, making it the most common sex chromosomal abnormality in females. It results from a partially or completely missing X chromosome, often occurring in mosaic karyotypes. TS is associated with various health issues, including short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital heart defects, endocrine disorders and autoimmune disorders.
View Article and Find Full Text PDFIntroduction: Craniopharyngioma constitutes approximately 10% of primary brain tumors in children. It can cause considerable morbidity and mortality due to the local aggressiveness of the tumor itself or its management affecting the hypothalamus-pituitary axis and optic pathway involvement. There is very scarce data available from LMIC which makes the management controversial where multidisciplinary teams are already not available in most of the centers.
View Article and Find Full Text PDFPediatr Endocrinol Diabetes Metab
October 2022
Introduction: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation.
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