Publications by authors named "Tsuyoshi Nishibukuro"
Article Synopsis
- This study focused on the gene and lipid profiles of children with familial hypercholesterolemia (FH) by sequencing genes related to dyslipidemia in 33 Japanese kids diagnosed with the condition.
- Results showed that nearly half of the children had pathogenic variants in known FH genes, particularly LDLR, correlating with significantly higher cholesterol levels compared to those without these variants.
- The findings suggest that while genetic analysis is beneficial for diagnosing FH, there is a need for more research on cases without identifiable pathogenic variants.
Uterus in mixed gonadal dysgenesis was detected by continuous irregular vaginal bleeding.
Clin Pediatr Endocrinol
October 2019
Disorders of sex development (DSD) are a group of congenital conditions presenting with differences in the chromosomal, gonadal, or anatomic sex development. Evaluating the chromosomes, gonads, and internal and external genitalia of the patients is important for understanding DSD. Furthermore, confirming the presence of a uterus is essential for the assessment of the internal genitalia status.
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