title: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene.
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.
authors.affiliation: Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea.
authors.forename: Jae Yeop
authors.initials: JY
authors.lastname: Jung
authors.affiliation: Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea.
authors.forename: Sohyoung
authors.initials: S
authors.lastname: Yang
authors.affiliation: Department of Obstetrics & Gynecology, Chungbuk National University College of Medicine, Cheongju, Korea.
authors.forename: Eun-Hwan
authors.initials: EH
authors.lastname: Jeong
authors.affiliation: Department of Anatomic Pathology, Chungbuk National University College of Medicine, Cheongju, Korea.
authors.forename: Ho-Chang
authors.initials: HC
authors.lastname: Lee
authors.affiliation: Department of Anatomic Pathology, Chungbuk National University College of Medicine, Cheongju, Korea.
authors.forename: Yong-Moon
authors.initials: YM
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea.
authors.forename: Heon-Seok
authors.initials: HS
authors.lastname: Han
authors.affiliation: Department of Pediatrics, Wonkwang University Sanbon Medical Center, Gunpo, Korea.
authors.forename: Kyung Hee
authors.initials: KH
authors.lastname: Yi
keywords: Mixed gonadal dysgenesis; SRY genes; Turner syndrome
references.citation: Am J Hum Genet. 1977 Jan;29(1):94-7
references.pmid: 835578
references.citation: Fertil Steril. 2008 Oct;90(4):1197.e17-20
references.pmid: 18295215
references.citation: Pediatr Dev Pathol. 2015 Mar-Apr;18(2):117-21
references.pmid: 25535833
references.citation: Int J Gynecol Pathol. 2009 Mar;28(2):197-202
references.pmid: 19188812
references.citation: J Clin Endocrinol Metab. 2000 Sep;85(9):3199-202
references.pmid: 10999808
references.citation: Sao Paulo Med J. 2009 Nov;127(6):373-8
references.pmid: 20512293
references.citation: Ann Genet. 2001 Jul-Sep;44(3):155-9
references.pmid: 11694229
references.citation: Lancet. 1975 Apr 12;1(7911):863
references.pmid: 48093
references.citation: Pediatr Clin North Am. 1990 Dec;37(6):1421-40
references.pmid: 2259547
references.citation: J Clin Endocrinol Metab. 2000 May;85(5):1908-11
references.pmid: 10843173
references.citation: Cancer Genet Cytogenet. 2004 Apr 1;150(1):70-2
references.pmid: 15041227
references.citation: Development. 1987;101 Suppl:151-5
references.pmid: 3503713
references.citation: Endocr Pathol. 1995 Winter;6(4):311-322
references.pmid: 12114813
references.citation: Ann Endocrinol (Paris). 1994;54(5):323-9
references.pmid: 8085779
references.citation: Nature. 1991 May 9;351(6322):117-21
references.pmid: 2030730