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Submitted: 04 November 2016 Modified: 09 July 2018
HERDIN Record #: PCHRD16110410120284

Gonadoblastoma in a Swyer syndrome: A case report.

Mailanie Grace T. de Cadiz,
Ma. Lorelyn L. Madamba,
Maritess A. Barrientos

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Swyer syndrome is a form of complete gonadal dysgenesis, characterized by a 46, XY karyotype with female phenotype. They present with primary amenorrhea and absence of secondary sexual characteristics. It is believed to be due to SRY gene deletions or mutations. They are born with female external genitalia and not suspected until puberty fails to occur. This paper presents a case of 22-year old female with female external genitalia, an infantile uterus and cervix and streak gonads and absent secondary sexual characteristics, who presented with primary amenorrhea. Gonadotropin levels are elevated with low estradiol levels. Karyotype showed a normal male 46,XY. Since the streak gonads have the propensity for tumor development in 20-30% of the cases, laparoscopic bilateral gonadectomy with salpingectomY was done which showed gonadoblastoma on the right gonad. Early diagnosis is crucial in the initiation of treatment to prevent osteoporosis and enhance development of secondary sexual characteristics and eventually initiation of menstruation. In-vitro fertilization using donor oocyte has proven to be successful in some reported cases.

Publication Type
Journal
Publication Sub Type
Journal Article, Original
Title
Philippine Journal of Reproductive Endocrinology and Infertility
Frequency
Semi-Annual
Publication Date
January-June 2016
Volume
13
Issue
1
Page(s)
22-32
LocationLocation CodeAvailable FormatAvailability
Philippine Council for Health Research and Development Library Box No. 2 Fulltext pdf (Request Document)
Philippine Council for Health Research and Development Fulltext Print Format (Request Document)

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