Ann Pediatr Endocrinol Metab.  2015 Dec;20(4):226-229. 10.6065/apem.2015.20.4.226.

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

• Jung JY
• Yang S
• Jeong EH
• Lee HC
• Lee YM
• Han HS
• Yi KH

• KMID: 2354700
• DOI: http://doi.org/10.6065/apem.2015.20.4.226

Abstract

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.

Keyword

Turner syndrome; Mixed gonadal dysgenesis; SRY genes

MeSH Terms

Chromosome Disorders
Disorders of Sex Development
Female
Genes, sry*
Genitalia
Gonadal Dysgenesis, Mixed*
Gonads
Humans
Karyotype
Male
Mass Screening
Monosomy
Mosaicism
Sex Differentiation
Turner Syndrome*

Figure

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  Fig. 1 Laparoscopic finding of uterus and gonads. Laparosacopic view of normal uterus (UT), both fallopian tubes (FT), and streak gonad (*).

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  Fig. 2 Dysgenetic gonad (H&E, ×40). (A) Ovarian stroma with whirling pattern and primordial follicles (H&E, ×200). (B) Clusters of Leydig cells with ill-defined boundery (H&E, ×400).

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  Fig. 3 Vas deference as tubular structure surrounded by fibromuscular stroma (H&E, ×100). One part of dysgenetic gonad, tubular structure surrounded by thick fibromuscular stroma was confirmed to be vas deference consisting of simple cuboidal cells.

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  Fig. 4 The other part of dysgenetic gonad, tubular structures were seen with surrounding thick fibrous tissue (*) tunica albugina (A). In high power view of the circle, tubular structures were confirmed to be typical seminiferous tubules with intermingling Leydig cells (B). (A) Seminiferous tubules surrounded by tunica albuginea (H&E, ×40). (B) Sertoli cells and spermatognoia (H&E, ×400).

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