45,X/46,XY GONADAL-DYSGENESIS IN AN INFERTILE ADULT MALE

被引：13

作者：

GASSOMATOSES, M ^{[1
]}

PICOALFONSO, A ^{[1
]}

FERNANDEZGARCIA, J ^{[1
]}

LOBATOENCINAS, J ^{[1
]}

MIRALLINARES, A ^{[1
]}

机构：

[1] HOSP ALICANTE,DEPT UROL,ALICANTE,SPAIN

来源：

UROLOGIA INTERNATIONALIS | 1992年 / 48卷 / 02期

关键词：

45; X/46; XY MOSAICISM; GONADAL DYSGENESIS; DYSGENETIC PSEUDOHERMAPHRODITISM; INFERTILITY;

D O I：

10.1159/000282343

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

A 33-year-old male was referred for infertility. Examination revealed bilateral scrotal gonads of soft consistency and small size. Semen analysis showed azoospermia. Elevated serum follicle-stimulating hormone levels and normal testosterone values were found. Surgical exploration and histopathology diagnosed dysgenetic testes with complete epididymus, and remnants of Fallopian tubes attached to the albuginea, with normal vas deferens and seminal vesicles showed on deferentovesiculography. Kariotype was 45,X/46,XY del(Y)(q11) with only 15% of 46XY cells in gonadal tissue. The clinical spectrum of 45,X/46,XY mosaicism and significance of this chromosomic anomaly is discussed.

引用

页码：239 / 241

页数：3

共 8 条

[1]

Knudzlon J., Aarskog D., 45,X/46,XY mosaicism. A clinical review and report of ten cases, Eur J Pediatr, 146, pp. 266-271, (1987)

[2]

Gantt P.A., Byrd J.R., Greenbalt R.B., McDonough P.G., A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis, Fertil Steril, 34, pp. 216-221, (1980)

[3]

Ayuso M.C., Ramos M.C., Bello M.C., Jimmenez A., Sanchez Cascos A., Herrera J.L., Cytogenetic and clinical findings in ten 45,X/46,XY patients, Clin Genet, 25, pp. 336-340, (1984)

[4]

Grumbach M.M., Conte F.A., Disorders of sex differentiation, Textbook of Endocrinology, pp. 312-401, (1985)

[5]

Chang H.J., Clark R.D., Bachman H., The pheno-type of 45,X/46,XY mosaicism. An analysis of 92 prenatally diagnosed cases, Am J Hum Genet, 46, pp. 156-167, (1990)

[6]

Aranoff G.A., Morishima A., XO/XY mosa in delayed puberty, J Adolesc Health Care, 9, pp. 501-504, (1988)

[7]

Reindollar R.H., Byrd J.R., Hahn D.H., Haselting F.P., McDonough P.G., A cytogenetic and endo-crinologie study of a set monozygotic iso-karyctic 45,X/46,XY twins discordant for phenotypic sex: Mosaicism versus chimerism, Fertil Steril, 47, pp. 626-633, (1987)

[8]

Schellhas H.F., Malignant potential of the dysgenetic gonad, Obstet Gynecol, 44, (1974)

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