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Quoted phrase not found in phrase index: "46,XX sex reversal 4"
Page 1
Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.
Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, Main KM, Gravholt CH. Berglund A, et al. Hum Reprod. 2017 Aug 1;32(8):1751-1760. doi: 10.1093/humrep/dex210. Hum Reprod. 2017. PMID: 28854582
STUDY QUESTION: What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? SUMMARY ANSWER: 46,XX DSD males had an increased overall morbidity compared to male background pop …
STUDY QUESTION: What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of …
Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
Chan AO, But WM, Lee CY, Lam YY, Ng KL, Loung PY, Lam A, Cheng CW, Shek CC, Wong WS, Wong KF, Wong MY, Tse WY. Chan AO, et al. Hong Kong Med J. 2015 Dec;21(6):499-510. doi: 10.12809/hkmj144402. Epub 2015 Oct 16. Hong Kong Med J. 2015. PMID: 26492835 Free article.
OBJECTIVE: Disorders of sex development are due to congenital defects in chromosomal, gonadal, or anatomical sex development. ...Of the patients, 22 had a confirmed genetic disease, with 11 having 5alpha-reductase 2 deficiency, seven with androgen insensitivity synd …
OBJECTIVE: Disorders of sex development are due to congenital defects in chromosomal, gonadal, or anatomical sex development. …
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. RESULTS: By CNV …
A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY a …
Autosomal XX sex reversal caused by duplication of SOX9.
Huang B, Wang S, Ning Y, Lamb AN, Bartley J. Huang B, et al. Am J Med Genet. 1999 Dec 3;87(4):349-53. doi: 10.1002/(sici)1096-8628(19991203)87:4<349::aid-ajmg13>3.0.co;2-n. Am J Med Genet. 1999. PMID: 10588843
Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence supporting that SOX9 duplication can cause XX sex reversal. ...Gonads were palpable. Cytogenetic analysis demonstrated a de novo …
Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence su …
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.
Hersmus R, Stoop H, Turbitt E, Oosterhuis JW, Drop SL, Sinclair AH, White SJ, Looijenga LH. Hersmus R, et al. BMC Med Genet. 2012 Nov 16;13:108. doi: 10.1186/1471-2350-13-108. BMC Med Genet. 2012. PMID: 23157850 Free PMC article.
BACKGROUND: The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). ...Mutations in this gene are responsible for sex reversal in approximately 10- …
BACKGROUND: The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosom …
Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.
Janner M, Flück CE, Mullis PE. Janner M, et al. Horm Res Paediatr. 2012;78(4):261-8. doi: 10.1159/000341585. Epub 2012 Sep 6. Horm Res Paediatr. 2012. PMID: 22964562 Free article.
Without 17beta-estradiol treatment the ovaries of the patient showed a multicystic appearance, which reversed on 17beta-estradiol replacement. Bone mass was within normal ranges during the whole follow-up period. ...
Without 17beta-estradiol treatment the ovaries of the patient showed a multicystic appearance, which reversed on 17beta-estradiol rep …
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.
Rall K, Barresi G, Walter M, Poths S, Haebig K, Schaeferhoff K, Schoenfisch B, Riess O, Wallwiener D, Bonin M, Brucker S. Rall K, et al. Orphanet J Rare Dis. 2011 May 28;6:32. doi: 10.1186/1750-1172-6-32. Orphanet J Rare Dis. 2011. PMID: 21619687 Free PMC article.
BACKGROUND: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. ...
BACKGROUND: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the se …