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46,XY pure gonadal dysgenesis with gonadoblastoma. A case report.

Abstract
46,xy pure gonadal dysgenesis is a rare disorder, which is characterized by female phenotype, infantile female external genitalia, deficient secondary sexual development, hypoplastic uterus and fallopian tubes, and streak gonads. A 17-year-old female phenotypic patient was admitted due to primary amenorrhea, who also had poor breast development, deficient axillary and pubic hairs, and infantile female external genitalia. Lymphocyte culture of peripheral blood for chromosome study revealed 46,XY normal male karyotype. Endocrine evaluation demonstrated low estrogen, high LH and FSH levels, and normal testosterone level of female range. According to the high risk of germ cell tumor occurrence in 46,XY gonadal dysgenesis, bilateral salpingo-oophorectomy and total hysterectomy were performed. Pathology of the left ovary revealed gonadoblastoma accidentally. Thereafter, she received regular hormone therapy and had generally felt well. Secondary sexual development was noted one year later.
AuthorsF P Chen, K K Chu, Y K Soong
JournalChanggeng yi xue za zhi / Changgeng ji nian yi yuan = Chang Gung medical journal / Chang Gung Memorial Hospital (Changgeng Yi Xue Za Zhi) Vol. 14 Issue 4 Pg. 264-8 (Dec 1991) China (Republic : 1949- )
PMID1797370 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Dysgerminoma (complications, pathology)
  • Female
  • Gonadal Dysgenesis, 46,XY (genetics, pathology, therapy)
  • Humans
  • Ovarian Neoplasms (complications, pathology)

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