- Female with 46, XY karyotype
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Jung EJ, Im DH, Park YH, Byun JM, Kim YN, Jeong DH, Sung MS, Kim KT, An HJ, Jung SJ, Lee KB
- KMID: 2386281
- Obstet Gynecol Sci.
- 2017 Jul;60(4):378-382.
- doi: 10.5468/ogs.2017.60.4.378
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders... -
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- A Cytogenetic Study in Patients with Suspected Y Chromosomal Abnormalities
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Kim KM, Moon SY
- KMID: 1911935
- Korean J Urol.
- 1985 Dec;26(6):595-604.
A chromosomal study was performed in a tota1 of 98 patients with suspected Y chromosomal abnormalities during past 1-1/2 years (Feb. 1984 -Aug. 1985). Karyotypes were obtained using short-term blood... -
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- A Case of Dysgenetic Male Pseudohermaphroditism
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Han SS, Lee MS
- KMID: 1912011
- Korean J Urol.
- 1985 Feb;26(1):67-71.
Dysgenetic male pseudohermaphroditism is a disorder of sexual differentiation in which patient with bilateral dysgenetic tests, persistent Mullerian structures, cryptorchidism and inadequate virilization. We experienced one case of dysgenetic male... -
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- A Case of Female Pseudohermaphroditism due to Congenital Adrenal Hyperplasia and a Case of Male Pseudohermaphroditism
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Shin YS, Park HJ, Chun HJ, Shin MJ
- KMID: 1668607
- J Korean Pediatr Soc.
- 1981 Dec;24(12):1203-1208.
No abstract available. -
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- A Case of Ambiguous Genitalia
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Shin KY, Woo YN, Kim DH
- KMID: 2289840
- Korean J Urol.
- 1988 Dec;29(6):1005-1009.
Anomalous sexual development causing ambiguous genitalia is largely categorized by disorders of gonadal differentiation, female pseudohermaphroditism and male pseudohermaphroditism. And the most common cause of ambiguous genitalia is congenital adrenal... -
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- Clinical Observation on Intersexuality
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Kim CS, Kim SW, Choi H
- KMID: 1911896
- Korean J Urol.
- 1986 Feb;27(1):152-158.
During the last 6.5 years 49 patients with inter sex were managed at the Department of Urology, Seoul National University Hospital. The median age was 8.8 years (from 2 months... -
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- A Clinical Observatien on 60 Cases of Disorders of Sexual Differentiation
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Kim SJ, Wang CS
- KMID: 1678185
- Korean J Urol.
- 1980 Feb;21(1):52-58.
From the stand point of understanding the pathophysiology of abnormalities in sexual development, disorders can be categorized as resulting from derangements in any of the 3 principal processes involved in... -
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- Differential Diagnosis of Disorders of Sex Development (DSD) by Molecular Genetic Analyses
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Choi JH, Yoo HW
- KMID: 1434707
- Ann Pediatr Endocrinol Metab.
- 2012 Sep;17(3):137-144.
- doi: 10.6065/apem.2012.17.3.137
Sex determination and differentiation require the balanced and sequential activation of transcription factors, signaling molecules, hormones and their receptors. Disorders of sex development (DSD) have heterogeneous groups of etiologies caused... -
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- A case of primary amenorrhea with hypertension due to 17alpha-hydroxylase deficiency
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Park DJ, Kim CH, Lee SR, Lee HY, Shim SH, Kim SH, Chae HD, Kang BM
- KMID: 2273123
- Korean J Obstet Gynecol.
- 2007 Apr;50(4):684-688.
17alpha- hydroxylase deficiency is a rare form of congenital adrenal hyperplasia and characterized by the coexistance of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as... -
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- A Study of Intersex
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Lee CY, Kim DH, Lee MS, Choi SK
- KMID: 1699471
- J Korean Pediatr Soc.
- 1982 Jun;25(6):607-615.
Intersex is the state of having ambiguous or inappropriate genitalia due to abnormalities of normal mechanisms for sexual development. Three broad subcategories of intersex have been defined according to the... -
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- A Case of Dysgenetic Male Pseudohermaphroditism Associated with Dicentric Y Isochromosome
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Lee SW, Kim CI, Lee SC, Kim SY, Lee IW
- KMID: 1912449
- Korean J Urol.
- 1987 Aug;28(4):593-597.
Dysgenetic male pseudohermaphroditism associated with a chromosomal abnormality is a disorder of sexual differentiation resulting from a defect in normal testicular differentiation during embryogenesis. Patients with this disorder present with... -
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- A case of male pseudohermaphroditism due to 17 ?hydroxylase deficiency
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Park CS, Lee ML, Jung EH, Kim JG
- KMID: 1686886
- J Korean Soc Endocrinol.
- 1993 Sep;8(3):363-369.
No abstract available. -
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- Vaginoplasty with penile and scrotal skin flap in male to female transsexualism
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Park SW, Jorche J, Leyes D, Melvin S, Lee NH, Yang KM
- KMID: 2119449
- J Korean Soc Plast Reconstr Surg.
- 1998 Aug;25(6):1039-1045.
Transsexuals are those who have appropriate chromosomal, hormonal and anatomical characteristics corresponding to their sexual phenotype but feel strongly with respect to their sexual identity, that they belong to the... -
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- Management of the Ambiguous Genitalia
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Hwang YJ, Woo YN
- KMID: 2139389
- Korean J Urol.
- 1994 Jul;35(7):765-769.
It is well known that proper gender assignment and treatment to a neonate born with ambiguous genitalia are extremely important. We reviewed seven patients with ambiguous genitalia who were surgically... -
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- Undescended Testis in the Complete Testicular Feminization Syndrome A report of three cases
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Kang YN, Park KK, Kwon KY, Lee SS, Lee JH, Kim JI
- KMID: 1725550
- Korean J Pathol.
- 1999 May;33(5):371-375.
The testicular feminization is the most common type of male pseudohermaphroditism. Mutation of androgen receptor gene impairs normal sexual differentiation in genetic male (46, XY) and subsequently develops secondary female... -
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- A Case of Complete Testicular Feminization Syndrome
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Moon TS, Rho JS, Park JH, Jeon DJ, Jang YW, Koo JN, Park YS, Woo YJ, Kim HS
- KMID: 2075843
- Korean J Obstet Gynecol.
- 1999 Jul;42(7):1599-1603.
Androgen insensitivity syndrome[testicular feminization syndrome] is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a blindedly ended vagina,... -
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- A Case of Incomplete Drash Syndrome
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Park IJ, Yim H, Lee JS, Jeong HJ, Jung WH
- KMID: 2142460
- J Korean Pediatr Soc.
- 1994 Jun;37(6):872-879.
Drash syndrome, which was first reported by Denys et al. in 1967 is a complex disorder which associates a nephropathy, Wilms' tumor, and male pseudohermaphroditism. The common denominator is a... -
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- Denys-Drash syndrome, Septated Vagina And Low Level Of Anti-mullerian Hormone In male neonate
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Lee HJ, Yeom JS, Park JS, Park ES, Seo JH, Lim JY, Park CH, Woo HO, Youn HS
- KMID: 1803862
- Ann Pediatr Endocrinol Metab.
- 2014 Jun;19(2):100-103.
- doi: 10.6065/apem.2014.19.2.100
There is a wide variety of genital abnormalities observed in patients with Denys-Drash syndrome (DDS). WT1 is thought to influence the genes related to genital development and mutations in this... -
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- Male pseudohermaphroditism due to 17alpha-hydroxylase deficiency
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Son HS, Oh YS, Yoo SJ, Yoon KH, Kang MI, Hong KS, Lee KW, Son HY, Kang SK
- KMID: 1686743
- J Korean Soc Endocrinol.
- 1992 Jun;7(2):153-159.
No abstract available. -
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- A case of 5 alpha reductase deficiency
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Jang MJ, Oh SY, Choi SE, Oh HK, Kim DY, Choi YS
- KMID: 1870367
- Korean J Obstet Gynecol.
- 2007 Mar;50(3):550-554.
5 alpha-reductase deficiency is a rare autosomal recessive disorder caused by mutations in the SRD5A2-gene, resulting in absent or diminished dihydrotestosterone (DHT) formation and, hence, in an underdevelopment of the... -
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