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Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis.

作者信息

Mizuno Kentaro, Kojima Yoshiyuki, Kurokawa Satoshi, Mizuno Haruo, Kohri Kenjiro, Hayashi Yutaro

机构信息

Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Japan.

出版信息

J Pediatr Surg. 2009 Jan;44(1):e1-3. doi: 10.1016/j.jpedsurg.2008.09.019.

DOI:10.1016/j.jpedsurg.2008.09.019
PMID:19159702
Abstract

We report our experience with laparoscopic gonadal biopsy and gonadectomy for a girl with a dicentric Y chromosome in mixed gonadal dysgenesis (MGD). A 4-year-old phenotypic girl was referred to our hospital because of slight enlargement of the clitoris. Fluorescence in situ hybridization analysis with Y chromosome-specific probes showed a karyotype with 45,XO/46,X,+idic(Y)(p11.32) and presence of the sex-determining region Y sequence. The pathologic finding by frozen section technique using laparoscopic biopsy specimens during the operation demonstrated a left streak gonad and right testis, and she was diagnosed with MGD. Finally, we performed laparoscopic bilateral gonadectomy. Laparoscopic management is a good approach for patients with sexual development disorders, including MGD because it provides minimally invasive surgery for children and enables all necessary procedures, including evaluation, biopsy, and gonadectomy, for diagnosis and treatment.

摘要

相似文献

1
Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis.
J Pediatr Surg. 2009 Jan;44(1):e1-3. doi: 10.1016/j.jpedsurg.2008.09.019.
2
Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.患有混合型性腺发育不全的婴儿中的等臂双着丝粒Y(p11.32)染色体。
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Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.具有45,X/46,X,idic(Y)/46,XY,idic(Y)核型的混合性性腺发育不全。
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Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis.性腺嵌合体45,X/46,X,假双着丝粒Y染色体(q11.2)导致具有混合型性腺发育不全的特纳综合征表型。
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Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis.一名患有混合性性腺发育不全的新生儿长臂等臂双着丝粒Y染色体的特征分析。
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[Mixed gonadal dysgenesis (MGD). Description of a case].
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