Two cases of sex chromosomal mosaicism treated by laparoscopic gonadectomy
| Autor: | Ken Fukuhara, Masaki Mandai, Hiroshi Fujiwara, Ikuo Konishi, Michiyasu Miki |
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| Rok vydání: | 2009 |
| Předmět: | |
| Zdroj: | JAPANESE JOURNAL OF GYNECOLOGIC AND OBSTETRIC ENDOSCOPY. 25:272-276 |
| ISSN: | 1884-5746 1884-9938 |
| Popis: | Two cases of sex chromosomal mosaicism treated by laparoscopic gonadectomy are described. Case 1 was a 23-year-old phenotypic female with primary amenorrhea. She had a history of a right inguinal herniorrhaphy at the age of 1 year and 3 months. Her external genitalia and vagina were normal, but chromosomal analysis showed mosaicism of 45X/46XY which comfirmed the diagnosis of mixed gonadal dysgenesis. A MRI demonstrated a small uterus and two high-intensity nodules near the orifice of both inguinal canals consistent with ectopic gonads. A laparoscopic bilateral gonadectomy was performed to avoid the risk of gonadoblastoma or dysgerminoma. The histopathologic study showed ovarian stromal cells lacking follicles and epithelial cells in the right gonad and a dysgenetic testis in the left nodule. Neither gonad contained neoplastic components. Case 2 was 28 years of age. She was diagnosed with Turner syndrome at the age of 2 years. Chromosomal analysis revealed a mosaic karyotype [45X/46X, idic(Y)]. Typical features of Turner syndrome, such as short statue, webbed neck, and a cubitus valgus deformity were observed. A MRI demonstrated a small uterus, but did not detect the location of the gonads. A laparoscopy was performed and streak gonads were identified adjacent to the oviducts bilaterally. Both gonads and oviducts were removed laparoscopically for prevention of neoplasm. The histopathologic examination revealed ovarian stromal cells without follicles and epithelial cells. Laparoscopy is helpful, not only to detect the location of gonads in patients with chromosomal abnormalities, but also to remove the structures with minimum invasion. |
| Databáze: | OpenAIRE |
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