- SRY Gene Evaluation in Patients with the Disorders of Sexual Differentiation
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Lee MC, Han SW, Lee JS, Choi SK
- KMID: 2060711
- Korean J Urol.
- 1997 Mar;38(3):299-305.
The disorders of sexual differentiation occurred due to the incompatibility of chromosomal sex, gonadal sex and phenotypic sex. A gene within Y chromosome such as SRY gene has been searched... -
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- A Case of Swyer Syndrome Which showed a Positive SRY Gene in Peripheral Blood and Gonad
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Nam YS, Lee SH, Han JH, Cho SW, Yoon TK, Lee CN, Cha KY
- KMID: 2235741
- Korean J Fertil Steril.
- 1999 Aug;26(2):275-280.
Male sexual differentiation involves a cascade of events initiated by the presence on the Y chromosome of the of the SRY (sex determining region of Y chromosome) gene, which causes... -
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- Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene
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Jung JY, Yang S, Jeong EH, Lee HC, Lee YM, Han HS, Yi KH
- KMID: 2354700
- Ann Pediatr Endocrinol Metab.
- 2015 Dec;20(4):226-229.
- doi: 10.6065/apem.2015.20.4.226
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... -
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- Retal Sex Determination by Polymerase Chain Reaction
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Rhee HS, Hong GY, Kim HG, Kim HS, Kim WS
- KMID: 2075241
- Korean J Obstet Gynecol.
- 1997 Jul;40(7):1412-1418.
Ror fetal sex determination by the PCR method, oilgoprimers to Y- chromosome gene, DYZI, SRY, and AMGL were synthesized genomic DNA was extracted from male and female placenta for the... -
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- Analysis of SRY Gene in Korean Patients with Swyer Syndrome and their Family Members
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Chae HD, Choi YM, Lee JY
- KMID: 2075242
- Korean J Obstet Gynecol.
- 1997 Jul;40(7):1419-1429.
Individuals affected with Swyer syndrome are phenotypic females with 46, XY karyotype, sexual infantilism, mullerina derivatives, and bilateral streak gonads that may undergo neoplastic transformation. The pathogenesis of this syndrome... -
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- Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
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Lee BY, Lee SY, Lee YW, Kim SY, Kim JW, Ryu HM, Lee JS, Park SY, Seo JT
- KMID: 2369024
- J Genet Med.
- 2016 Dec;13(2):78-88.
- doi: 10.5734/JGM.2016.13.2.78
PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex... -
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- A Case of SRY Positive 46,XX Male
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Chung NY, Yeon YH, Jung MH, Suh BK, Lee BC
- KMID: 1515009
- J Korean Soc Pediatr Endocrinol.
- 2003 Dec;8(2):184-188.
46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and... -
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- 45,X / 47,XYY Mosaic Turner Syndrome
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Kim SK, Kim JW, Yang YH, Kim HJ, Mo HJ, Bai SW, Kim IK
- KMID: 2261801
- Korean J Obstet Gynecol.
- 2000 Jan;43(1):118-123.
45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old... -
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- Clinical Characteristics in the 45XO/46XY Mosaicism and 45XO with SRY Gene Positive Patients
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Hong JE, Lee MC, Han SW, Lee JS, Choi SK, Lee T
- KMID: 2290332
- Korean J Urol.
- 1999 May;40(5):644-648.
PURPOSE: We investigated the clinical characteristics and relationship between chromosome and its phenotypic expression in patients with 45 XO/46XY mosaicism or 45 XO with SRY gene. MATERIALS AND METHODS: 11 patients... -
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- A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome
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Yoon KH, Lee YJ
- KMID: 854850
- Korean J Lab Med.
- 2008 Apr;28(2):151-154.
- doi: 10.3343/kjlm.2008.28.2.151
A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic... -
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- Molecular and Cytogenetic Findings in 46,XX Males
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Choi SK
- KMID: 1538078
- J Genet Med.
- 1998 Mar;2(1):11-16.
This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic... -
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- When Can We Identify Fetal Male Gene By Using Maternal Plasma DNA?
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Hong SC, Song JS, Cho SH, Song JY, Park SY, Kim YT, Kim SH, Lee KW
- KMID: 2262552
- Korean J Obstet Gynecol.
- 2002 Jan;45(1):78-83.
OBJECTIVE: To know when we can identify fetal Y chromosome SRY gene by using fetal DNA in maternal plasma. METHODS: DNA from maternal plasma of 62 pregnant women (48: inpatients,... -
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- Screening for Y-derived Sex Determining Gene SRY in Patients with Intersex
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Park KH, Kim JY, Bae SW, Lee BS, Yang YH, Cho DJ, Song CH, Kim JU, Cho NH
- KMID: 2075726
- Korean J Obstet Gynecol.
- 1999 Apr;42(4):854-861.
OBJECTIVE: The gene SRY[sex determining region of the Y] located at the distal region of the short arm of the Y chromosome, is necessary for male sex determination in mammals.... -
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- A Case of a 46,XX Male with SRY Gene
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Min J, Lee DS, Cho SK, Park S, Lee S, Baek M, Kim K, Hwang D
- KMID: 2184461
- J Genet Med.
- 2008 Dec;5(2):145-149.
46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia,... -
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- A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication
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Lee GM, Ko JM, Shin CH, Yang SW
- KMID: 1803864
- Ann Pediatr Endocrinol Metab.
- 2014 Jun;19(2):108-112.
- doi: 10.6065/apem.2014.19.2.108
The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to... -
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- Detection of Y Chromosome-specific Sequences in Patients with Turner Syndrome
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Choi SH, Choi YM, Park SH, Chang ER, Bai KB, Yang SW, Kim SH, Seol HW, Oh SK, Moon SY
- KMID: 2270635
- Korean J Obstet Gynecol.
- 2002 Dec;45(12):2244-2249.
Existence of Y derived chromosome in Turner patients is significant due to the risk of gonadoblastoma development, but cytogenetic analysis may fail to detect low levels of Y chromosomal materials.... -
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- Detection of Y Mosaicism in Blood and Gonad of Patients with Gonadal Dysgenesis
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Kim JY, Lee SJ, Park KH, Kim JY, Bai SW, Lee BS, Kim SK, Kim IK, Cho DJ, Song CH, Kim JW, Lee HJ
- KMID: 1891294
- Korean J Fertil Steril.
- 1999 Dec;26(3):457-466.
OBJECTIVE: The presence of Y Chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism,... -
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- Molecular Analysis of the Y Chromosome in a 46,XY Female Phenotype
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Kim JW, Kim TJ, Park SY, Nam SA, Jun JY
- KMID: 1536936
- J Genet Med.
- 1999 Dec;3(1):5-10.
This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus)in an 18-year-old patient. To confirm whether a Y chromosome has... -
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- Molecular Genetic Screening for the SRY(Sex Determining Region of the Y chromosme) Gene in Turner Syndrome Patients
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Shim JY, Yoo HW
- KMID: 1747716
- J Korean Pediatr Soc.
- 1996 Jul;39(7):915-923.
PURPOSE: Turner syndrome is among the most common cytogenetic abnormalities associated with X chromosome. In only 40-60% of Turner syndrome, 45,X monosomy is found and the high prenatal mortality of... -
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- A Case of Molecular Analysis of XX Male Syndrome
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Lee HY, Lyoo SH, Hwang CH, Lee SD
- KMID: 2250279
- Korean J Leg Med.
- 2013 Feb;37(1):38-41.
- doi: 10.7580/kjlm.2013.37.1.38
Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX... -
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