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一名46,XX真两性畸形患者伴有H-Y抗原

[A 46, XX true hermaphrodite with H-Y antigen].

作者信息

Nakamura M, Nojima M, Namiki M, Nakano E, Okuyama A, Sonoda T, Sakamoto H

出版信息

Hinyokika Kiyo. 1986 May;32(5):769-72.

PMID:3751806
Abstract

A 23-year-old man was admitted to Osaka University Hospital with complaints of breast enlargement and defect of bilateral scrotal content. A gonad-like organ could be palpable at bilateral inguinal area and pubic hair was a female escutcheon in spite of complete male phenotype for both external genitalia and posterior urethra by retrograde urethrogram. Decreased serum value of testosterone and increased the serum value of estradiol and progesterone were found by endocrinological evaluation. Karyotype derived from skin fibroblast and peripheral lymphocyte was 46, XX and H-Y antigen was detected. Exploratory laparotomy disclosed uterus and bilateral ovotestis with epididymis, seminal vesicle and Fallopian tube. The patient received gonadectomy, hysterectomy and insertion of testicular prosthesis.

摘要

一名23岁男性因乳房增大及双侧阴囊内容物缺损而入住大阪大学医院。双侧腹股沟区可触及性腺样器官,尽管逆行尿道造影显示外生殖器和后尿道均为完全男性表型,但阴毛呈女性分布。内分泌评估发现血清睾酮值降低,雌二醇和孕酮值升高。皮肤成纤维细胞和外周淋巴细胞的核型为46,XX,且检测到H-Y抗原。剖腹探查发现子宫及双侧卵睾,伴有附睾、精囊和输卵管。该患者接受了性腺切除术、子宫切除术及睾丸假体植入术。

相似文献

1
[A 46, XX true hermaphrodite with H-Y antigen].一名46,XX真两性畸形患者伴有H-Y抗原
Hinyokika Kiyo. 1986 May;32(5):769-72.
2
H-Y antigen mosaicism in the gonad of a 46,XX true hermaphrodite.一名46,XX真两性畸形患者性腺中的H-Y抗原嵌合体。
N Engl J Med. 1979 Apr 5;300(14):745-9. doi: 10.1056/NEJM197904053001401.
3
[Causes of ambiguous external genitalia in neonates].[新生儿外生殖器模糊的原因]
Srp Arh Celok Lek. 2001 Mar-Apr;129(3-4):57-60.
4
[46, XX true hermaphroditism: a case report with a review of 37 cases reported in Japan].
Hinyokika Kiyo. 1985 May;31(5):857-61.
5
True hermaphroditism: an analytic review with a report of 3 new cases.真两性畸形:一项分析性综述及3例新病例报告
Am J Obstet Gynecol. 1976 Dec 1;126(7):890-907.
6
Report of a case of true hermaphroditism with karyotype 45,X/46,XX/46,X,mar/47,XX,mar.一例核型为45,X/46,XX/46,X,mar/47,XX,mar的真两性畸形病例报告。
J Genet Hum. 1977 Oct;25(3):195-203.
7
True hermaphrodite, 46,XX/46,XY karyotype with surgical reconstruction of ambiguous genitalia: a case report and literature review.
J Med Assoc Thai. 1992 Oct;75(10):595-601.
8
[A case of true hermaphroditism].[一例真两性畸形病例]
Hinyokika Kiyo. 1983 Apr;29(4):451-7.
9
[True hermaphroditism with 46, XX karyotype: report of a case].
Hinyokika Kiyo. 1988 Jul;34(7):1249-52.
10
Spontaneous ovulation in a true hermaphrodite with normal male phenotype and a rare 46,XX/47,XXY Klinefelter's mosaic karyotype.一名具有正常男性表型和罕见的46,XX/47,XXY克氏综合征嵌合核型的真两性畸形患者出现自发排卵。
Horm Res. 2007;68(3):139-44. doi: 10.1159/000101190. Epub 2007 Mar 26.

引用本文的文献

1
True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.真两性畸形:地理分布、临床发现、染色体及性腺组织学
Eur J Pediatr. 1994 Jan;153(1):2-10. doi: 10.1007/BF02000779.