Publications by authors named "Manami Sammori"
A case of 46,XY complete gonadal dysgenesis with a novel missense variant in .
Clin Pediatr Endocrinol
September 2023
Article Synopsis
- * The patient had high gonadotropin levels and low testosterone, with imaging showing a hypoplastic uterus and no identifiable gonads, which were later removed due to cancer risk.
- * Genetic analysis identified a novel pathogenic variant in the SRY gene, leading to a diagnosis and successful female hormone replacement therapy, fostering physical development and reassurance for the patient and her family.