関: Turner syndrome、Turner's syndrome

WordNet

infertility between hybrids
a gland in which gametes (sex cells) are produced (同)sex gland
the 24th letter of the Roman alphabet (同)x, ex
of or relating to the gonads; "gonadal hormones"

PrepTutorEJDIC

性腺(せん),生殖腺
Christ / Christian
x-axis

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1. ターナー症候群（性腺発育不全）の臨床症状および診断 clinical manifestations and diagnosis of turner syndrome gonadal dysgenesis
2. ターナー症候群（性腺発育不全）の管理 management of turner syndrome gonadal dysgenesis
3. ダウン症のスクリーニングにおける血清マーカー定量による妊娠転帰の予想 pregnancy outcomes predicted by serum markers assayed in down syndrome screening
4. 腹壁切開の原則 principles of abdominal wall incisions
5. 原発性早期卵巣障害（早期卵巣機能不全）の病因と原因 pathogenesis and causes of spontaneous primary ovarian insufficiency premature ovarian failure

English Journal

Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes.

Dutta D, Shivaprasad KS, Das RN, Ghosh S, Chatterjee U, Chowdhury S, Dasgupta R.Author information Department of Endocrinology & Metabolism, IPGMER & SSKM Hospital, Kolkata, India.AbstractOvotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15-year-old having male body habitus, axillary and pubic hair, well-developed penis and right-descended testis with history of penoscrotal hypospadias correction, presenting with three episodes of cyclical haematuria, who biochemically had normal serum testosterone (338 ng dl(-1) ) which increased following hCG stimulation (614 ng dl(-1) ), elevated estradiol (17.35 pg ml(-1) ) along with elevated luteinising hormone (11.3 mIU l(-1) ) and follicle-stimulating hormone (31 mIU l(-1) ). Ultrasonography followed by micturating cystourethrogram and cystoscopy confirmed the presence of prostate, uterus, cervix and vagina draining into the urogenital sinus continuing till the penile urethra and left intra-abdominal gonad. Patient underwent hysterectomy and left gonadectomy. Histopathologic study of resected gonad confirmed presence of ovotestis. Low estradiol (1.2 pg ml(-1) ) following gonadectomy confirmed the ovotestis origin of estradiol. Chromosomal analysis revealed complex karyotype predominant being 47,XYY (50%) followed by 46,XY (26%) and 45,X (24%). This is perhaps the first report of 47,XYY/46,XY/45,X causing OTDSD in a phenotypic male.
Andrologia.Andrologia.2014 Mar;46(2):191-3. doi: 10.1111/and.12048. Epub 2012 Nov 19.
Ovotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15-year-old having male body habitus, axillary and pubic hair, well-developed penis and right-des
PMID 23163819

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.

Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, Calcaterra V, Invernizzi P, Larizza D, Finelli P, Persani L.Author information Medical Cytogenetics and Molecular Genetics Lab, IRCSS Istituto Auxologico Italiano, 20145 Milan, Italy.AbstractSTUDY QUESTION: What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS)?
Human reproduction (Oxford, England).Hum Reprod.2014 Feb;29(2):368-79. doi: 10.1093/humrep/det436. Epub 2013 Dec 8.
STUDY QUESTION: What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS) SUMMARY ANSWER: SM was significantly associated with X chromosome mosaicism in the TS patients; a mosaicism with around 10% euploid cell line may predict spontaneous pu
PMID 24324027

Clinical characteristics, cytogenetic and molecular findings in patients with disorders of sex development.

Tian L, Chen M, Peng JH, Zhang JW, Li L.Author information Department of Blood Transfusion, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China, litian1971@sina.com.AbstractThe clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.
Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban.J Huazhong Univ Sci Technolog Med Sci.2014 Feb;34(1):81-6. doi: 10.1007/s11596-014-1235-y. Epub 2014 Feb 6.
The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super fem
PMID 24496683

Japanese Journal

Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis

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Clinical pediatric endocrinology 15(3), 109-115, 2006-07
… Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. … It is speculated that this conventional karyotype analysis has limitations since there are often difference in gonadal tissue analysis. … In Case 1, the percentage of the 45, X cell line in lymphocytes decreased after birth and detection of mosaicism could only be done by karyotype of gonads at 7 mo of age. …
NAID 110006794327

Monozygotic Twins with Discordant Sexual Phenotypes due to Different Rations of Mosaicism of 47, X, idic(Y), idic(Y)/46, X, idic(Y)/45, X

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Endocrine journal 49(4), 497-501, 2002-08-01
… hybridization chromosome analysis disclosed that both twins had a 47,X,idic(Y),idic(Y)/46,X,idic(Y)/45,X and 47,X, + mar × 2.ish idic(Y)(q11.2)(DYZ3 + + × 2)/46,X, + mar.ish idic(Y)(q11.2)(DZY3 + + )/45,X. …
NAID 10010939023