- A Case of 45 , X/46 , XY Mixed Gonadal Dysgenesis Associated with Azoospermia
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Nam YS, Kim HJ, Lee SH, Kwak IP, Yoon TK, Cha KY
- KMID: 2261124
- Korean J Obstet Gynecol.
- 1998 Aug;41(8):2212-2215.
Gonadal dysgenesis traditionally has been based upon phenotypically classified syndromes in which one or both gonads become atretic or streaks. In chromosomally competent ovarian (or gonadal) failure (CCOF) the karyotypes... -
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- Six Cases of Congenital Adrenal Hyperplasia That Were Due to 17alpha-hydroxylase/17,20-lyase Deficiency
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Shin DH, Yu SH, Choi YM, Kim JG, Kim SW, Shin CS, Park KS, Kim SY
- KMID: 1468505
- J Korean Endocr Soc.
- 2009 Jun;24(2):109-115.
- doi: 10.3803/jkes.2009.24.2.109
17alpha-hydroxylase/17,20-lyase deficiency is a rare phenotype of congenital adrenal hyperplasia (CAH), and this is characterized by hyporeninemic hypertension, primary amenorrhea and abnormality of the secondary sexual characteristics (pseudohermaphroditism in men).... -
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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 Case of Swyer Syndrome Diagnosed in Infant
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Yu ST, Oh IJ, Choi EJ, Hong ME, Kim JG, Lee CW, Oh YK
- KMID: 2280558
- Korean J Perinatol.
- 2005 Jun;16(2):171-175.
Swyer syndrome is characterized by a female phenotype, normal to tall stature, sexual infantilism with primary amenorrhea and 46,XY karyotype. The internal genitalia are female with uterus and full vagina,... -
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- A Case of Down-Turner Syndrome
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Jeong HJ, Lee ES, Choi KH, Park YH
- KMID: 2321988
- J Korean Soc Pediatr Endocrinol.
- 2005 Jun;10(1):120-124.
Down-Turner syndrome is a rare disease with the incidence of 1 in 2 million. Although Down syndrome with various Turner's karyotype were reported occasionally since a report in 1962, it... -
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- A Case of Variants of Turner Syndrome Showing 45 , tX , dic(X ; X) (q28 ; q26) , der (13 ; 14) (q10 ; q10)/44 , X , der (13 ; 14) (q10 ; q10) Karyothype
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Park JG, Kang GC, Lee JY, Yang SO, Kee KS, lm HJ
- KMID: 2261090
- Korean J Obstet Gynecol.
- 1998 Jul;41(7):2044-2047.
Turner syndrome, the most common female gonadal dysgenesis, is characterized by short stature, sexual infantilism, neck webbing, cubitus valgus and low posterior hairline, which is often associated with many variant... -
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- Untreated Congenital Adrenal Hyperplasia with 17-alpha Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor
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Lee SJ, Song JE, Hwang S, Lee JY, Park HS, Han S, Rhee Y
- KMID: 2407094
- Endocrinol Metab.
- 2015 Sep;30(3):408-413.
- doi: 10.3803/EnM.2015.30.3.408
Congenital adrenal hyperplasia (CAH) with 17alpha-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and... -
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- A Case of Dysgerminoma Associated with 46, XY Pure Gonadal Dysgenesis
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Ko YS, Choi HI, Cha DS, Lee YJ, Chung IB, Kim KK, Yoo SW, Cho MY
- KMID: 1980073
- Korean J Gynecol Oncol Colposc.
- 2000 Sep;11(3):306-311.
Dysgerminoma developed in a 21-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis, Swyer syndrome. This patient presented with pelvic mass associated with abdominal pain and primay amenorrhea. Clinical characteristics... -
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- A Case of Anterior Pituitary Agenesis in an Adult Woman
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Jung TS, Hahm JR, Lee KW, Jung JH, Kim SH, Ha J, Cho HS, Chung SI
- KMID: 2199940
- J Korean Soc Endocrinol.
- 2002 Apr;17(2):263-268.
Dear Author, You have used abbreviations that will need to be defined in the main paper, i.e. PIT1, PROP1 and MRI. This is just for your advice. Pituitary agenesis is an... -
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- A Case of Colon Cancer in Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome with Gonadal Agenesis
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Park JY, Kim SY, Kim JN, Yang SJ, Park JR, Kwan BS, Kim DJ, Lee KW, Choi KM, Baik SH, Joo MK, Chang JS
- KMID: 1511992
- J Korean Endocr Soc.
- 2006 Oct;21(5):414-418.
- doi: 10.3803/jkes.2006.21.5.414
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is the second frequent cause of primary amenorrhea. There have been several reports concerning gynecologic disease in MRKH syndrome, but there has been no case about a... -
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- A case of resistant ovary syndrome
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Kim SS, Jo IH, Jeong EJ, Seo YJ, Byun JM, Jeong DH, Sung MS, Kim KT, Lee KB
- KMID: 2274222
- Korean J Obstet Gynecol.
- 2012 Dec;55(12):1039-1042.
- doi: 10.5468/KJOG.2012.55.12.1039
A 21-year-old female with primary amenorrhea, sexual infantilism, and phenotypic female visited our Obstetrics and Gynecology Clinics. The patient showed elevated follicle stimulating hormone and luteinizing hormone, decreased estradiol, normal... -
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- A Case of Partial Hypopituitarism and Central Diabetes Insipidus Developed after Tuberculous Meningitis
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Yoo SJ, Yoon KH, Kang MI, Cha BY, Lee KW, Son HY, Kang SK, Chung MH, Shin Y, Kwon HS, Jin SW
- KMID: 2331071
- J Korean Soc Endocrinol.
- 1997 Jun;12(2):308-314.
Complications related to tuberculous menngitis (TBM) is frequently encountered in medical field during, just after treatment and long time later. Hypothalamo-pituitary dysfunctions such as diabetes incipidus, dwarfism, hypogonadism, growth failure,... -
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- Correlation between Karyotype and Phenotype in Turner Syndrome
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Shim YJ, Hwang YJ, Lee KS
- KMID: 2244893
- J Genet Med.
- 2009 Jun;6(1):67-73.
PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical... -
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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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- A Case of Turner's Syndrome(45,X/46,XX) Associated with Patent Ductus Arteriosus
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Lee NH, Kim W, Lee JS, Kim HG, Im JC, Kang MJ, Cho ET, Rheu HS, Meong JI
- KMID: 2026105
- J Korean Soc Echocardiogr.
- 2002 Jun;10(1):89-95.
We described a 65-year-old female of 45,X/46,XX Turner's syndrome associated with patent ductus arteriosus who was admitted due to exertional dyspnea and palpitation. This patient had not spontaneous mensturation and... -
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- A Case of Turner's Syndrome(46, XXqi) Associated with Large Atrial Septal Defect and Mitral Valve Prolapse
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Baek JC, Kim W, Kang HS, Lee S, Meong JI, Gill GC, Park JH, Cho JG, Park JC, Kang JC
- KMID: 2410424
- J Korean Soc Echocardiogr.
- 1995 Dec;3(2):209-215.
- doi: 10.4250/jkse.1995.3.2.209
We descrive a 23-year-old female of 46, XXqi Turner's syndrome associated with large atrial sepatal defect(secundum type) and mitral valve prolapse who was admitted due to amenorrhea, sexual infantilism and... -
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- The Changes of the Bone Mineral Density by Treatment Modality in Patients with Turner Syndrome
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Chung SC, Kim SN, Kim DH, Park MJ
- KMID: 2001537
- J Korean Soc Pediatr Endocrinol.
- 1997 Mar;2(1):70-80.
PURPOSE:Decreased bone mineral density(BMD) has been reported in girls with Turner syndrome. Estrogen therapy is recommanded to improve sexual infantilism and decreased BMD. Short stature is also characteristic finding in... -
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- Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
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Wang M, Wang H, Zhao H, Li L, Liu M, Liu F, Meng F, Fan C
- KMID: 2468629
- Clin Hypertens.
- 2019 ;25(1):23.
- doi: 10.1186/s40885-019-0128-6
BACKGROUND: 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia,... -
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- The Changes of the Bone Mineral Density in the Girls with Turner Syndrome, using Recombinant Human Growth Hormone
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Yang SW
- KMID: 2208239
- J Korean Pediatr Soc.
- 1996 Jun;39(6):839-845.
PURPOSE: Estrogen deficiency causes sexual infantilism in Turner syndrome, which could decrease the bone mineral density(BMD) since birth. This decreased BMD might be contributed by the decreased growth hormone(GH) secretion.... -
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