Medicine
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Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. ⋯ This mutation was in accordance with previously reported gene mutations. The patient's parents were nonconsanguineous; her parents, paternal grandfather, and maternal grandmother were all found to be carriers of a STAR gene mutation. This 46 XY disorders of sex development case presented with adrenal insufficiency and female phenotype initially. The diagnosis was complicated depending on the clinical hormone workup. LCAH was confirmed by genetic tests and genogram of the family.
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Observational Study
Mutual associations between intellectual disability and epilepsy-related psychiatry disability: Population-based study.
Epilepsy is the third-leading cause of psychiatry disability in China, and intellectual disability (ID) is also 1 major type of disabilities in China. This study estimates the prevalence of comorbidities with ID and epilepsy-related psychiatry disability (EPD) and examines mutual associations within ID and EPD. Data were taken from the Second China National Sample Survey on Disability, which was a nationally representative, population-based survey. ⋯ Except for age, other variables were also associated between ID and EPD considering sequence of ID and EPD. This study is the first national study to explore mutual associations with ID and EPD and highlights the young ID children with high risk of development of epilepsy. To address the challenge of ID with EPD disability in China, the government should adjust its strategies for healthcare systems to prevent disability.