Abstract | BACKGROUND: CASE REPORT: At the age of 3 years, the patient developed nephrotic syndrome. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis. At the age of 17 years, the patient presented primary amenorrhea and was referred to our department. Physical examination was consistent with Tanner 1 development and external genitalia were female phenotype. Speculum examination showed uterine cervix and uterine body and bilateral ovaries were not palpable on pelvic examination. Multi-sliced computed tomography of abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at pelvic wall and hypoplastic uterus. Serum testing revealed primary hypogonadism pattern, elevated follicle-stimulating hormone and luteinizing hormone with low concentrations of estradiol and testosterone. The patient underwent genetic counseling with her parents. Chromosomal status was 46XY karyotype and DNA sequencing confirmed FS due to a heterozygous WT1 mutation (IVS9+5G>A). Elective laparoscopic bilateral salpingo-oophorectomy was performed to avoid increased risk for gonadoblastoma. Pathological examination revealed gonadoblastoma in the right gonad. CONCLUSION:
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Authors | Kazunori Hashimoto, Y U Horibe, Jiro Ezaki, Toshiyuki Kanno, Nobuko Takahashi, Yoshika Akizawa, Hideo Matsui, Tomoko Yamamoto, Noriyuki Shibata |
Journal | Anticancer research
(Anticancer Res)
Vol. 37
Issue 7
Pg. 3975-3979
(07 2017)
ISSN: 1791-7530 [Electronic] Greece |
PMID | 28668903
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved. |
Chemical References |
- WT1 Proteins
- WT1 protein, human
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Topics |
- Adolescent
- Female
- Frasier Syndrome
(complications, genetics, surgery)
- Gonadal Dysgenesis, 46,XY
- Gonadoblastoma
(diagnostic imaging)
- Humans
- Mutation
- Ovarian Neoplasms
(diagnostic imaging)
- Ovariectomy
- Salpingectomy
- Tomography, X-Ray Computed
- WT1 Proteins
(genetics)
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