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PedAM

Pediatric Disease Annotations & Medicines




Disease gonadoblastoma
Phenotype C0018051|gonadal dysgenesis
Sentences 4
PubMedID- 23824832 The significant percentage of gonadoblastoma in patients with 46,xy complete gonadal dysgenesis due to partial 9p monosomy also continues to support the necessity of gonadectomy in this patient population.
PubMedID- 20981291 [49], a 9-month-old infant with hypertrophic clitoris and separated urethral and vaginal opening was diagnosed as having 46,xy incomplete “pure gonadal dysgenesis.” examination of both gonads revealed gonadoblastoma and bilateral salpingo-gonadectomy; partial hysterectomy was performed.fallat and donahoe [50] note that the gonads most at risk for malignant transformation are both dysgenetic and intraabdominal and that early gonadectomies are recommended, as malignancies have been reported in infancy.
PubMedID- 22906432 We present two cases of gonadoblastoma associated with complete gonadal dysgenesis and turner syndrome, respectively, with dysgerminoma overgrowth found in one case.
PubMedID- 26089923 1gonadoblastoma arising within gonadal dysgenesis: a gonadoblastoma with large germ cells with vesicular nuclei, prominent nucleoli and abundant cytoplasm and hyaline globules infiltrating adjacent gonad (h&e stain); b nuclear immunoreactivity with oct3/4; c cd117 (c-kit) cytoplasmic immunoreactivity; d placental alkaline phosphatase (plap) cytoplasmic immunoreactivityfig.

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