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Quoted phrase not found in phrase index: "46,XX sex reversal 4"
Page 1
Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review.
Wei J, Liu C, Zhang M, Liu S, Fu J, Lin P. Wei J, et al. BMC Med Genomics. 2022 Sep 5;15(1):188. doi: 10.1186/s12920-022-01347-0. BMC Med Genomics. 2022. PMID: 36064700 Free PMC article. Review.
BACKGROUND: 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. ...SOX3 duplication may cause sex reversal, and …
BACKGROUND: 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue different …
Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound.
Pinhas-Hamiel O, Zalel Y, Smith E, Mazkereth R, Aviram A, Lipitz S, Achiron R. Pinhas-Hamiel O, et al. J Clin Endocrinol Metab. 2002 Oct;87(10):4547-53. doi: 10.1210/jc.2001-011034. J Clin Endocrinol Metab. 2002. PMID: 12364433
We describe our experience with prenatal diagnosis of sex differentiation disorders, with focus on the role of ultrasound scans for coherent assessment of prenatal diagnosis. ...Four fetuses were diagnosed with male pseudohermaphroditism (1 with steroid sulfatase deficienc …
We describe our experience with prenatal diagnosis of sex differentiation disorders, with focus on the role of ultrasound scans for c …
A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.
Orekhova AS, Kalinchenko N, Morozov IA, Vasilyev EV, Rubtsov PM, Dedov II, Tiulpakov A. Orekhova AS, et al. Horm Res Paediatr. 2018;89(6):450-454. doi: 10.1159/000481776. Epub 2017 Nov 17. Horm Res Paediatr. 2018. PMID: 29151085
The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation …
The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DS …
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. CONCLUSION: In summary, we have shown that estradiol is need …
Without 17beta-estradiol treatment the ovaries of the patient showed a multicystic appearance, which reversed on 17beta-estradiol rep …
Efficacy of Fibroblast Growth Factor on Epithelialization of the Neovagina in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome Who Underwent Vaginoplasty.
Nagata T, Kawano A, Koyama M, Nakamura T, Hirahara F, Nakajima T, Sato T, Sakakibara H. Nagata T, et al. J Pediatr Adolesc Gynecol. 2017 Jun;30(3):400-404. doi: 10.1016/j.jpag.2015.12.001. Epub 2015 Dec 11. J Pediatr Adolesc Gynecol. 2017. PMID: 26688428
Immunostaining for estrogen receptor alpha, and keratin 13 and 14, and reverse transcription polymerase chain reaction (RT-PCR) analysis of the FGF receptor (FGFR) 1-4 were performed in samples from case 2 three times (ie, during the surgery, during the period of va …
Immunostaining for estrogen receptor alpha, and keratin 13 and 14, and reverse transcription polymerase chain reaction (RT-PCR) analy …