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Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Adachi M, Hasegawa T, Tanaka Y, Asakura Y, Hanakawa J, Muroya K. Adachi M, et al. Endocr J. 2018 Dec 28;65(12):1187-1192. doi: 10.1507/endocrj.EJ18-0218. Epub 2018 Sep 15. Endocr J. 2018. PMID: 30224582 Free article. Review.
A heterozygous NR5A1 mutation is one of the most frequent causes of 46,XY DSD (disorders of sex development). We here reported a NR5A1-related 46,XY DSD patient, who first received endocrinological attention at 10 years of age for clitoromegaly. …
A heterozygous NR5A1 mutation is one of the most frequent causes of 46,XY DSD (disorders of sex development). We here r …
AMH and AMHR2 mutations: A spectrum of reproductive phenotypes across vertebrate species.
Mullen RD, Ontiveros AE, Moses MM, Behringer RR. Mullen RD, et al. Dev Biol. 2019 Nov 1;455(1):1-9. doi: 10.1016/j.ydbio.2019.07.006. Epub 2019 Jul 10. Dev Biol. 2019. PMID: 31301298 Free PMC article. Review.
Depending on the fish species, loss of AMH signaling results in infertility, germ cell tumors, or male-to-female sex reversal. Here we compare the spectrum of phenotypes caused by AMH and AMHR2 mutations in a variety of vertebrate species. ...
Depending on the fish species, loss of AMH signaling results in infertility, germ cell tumors, or male-to-female sex reversal. …
Are human male patients with DAX1/NR0B1 mutations infertile?
Ravel C, Hyon C, Siffroi JP, Christin-Maitre S. Ravel C, et al. Ann Endocrinol (Paris). 2014 May;75(2):126-7. doi: 10.1016/j.ando.2014.03.003. Epub 2014 Apr 21. Ann Endocrinol (Paris). 2014. PMID: 24751136 Review.
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. ...DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. ...DAX-1
Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.
Shahid M, Dhillon VS, Hussain Z, Masa JF, Aslam M, Raish M, Ahmad A, Khan NJ, Prasad S, Batra S, Pasha ST, Husain SA. Shahid M, et al. Fertil Steril. 2008 Oct;90(4):1199.e1-8. doi: 10.1016/j.fertnstert.2007.11.062. Epub 2008 Mar 4. Fertil Steril. 2008. PMID: 18304538 Free article. Review.
OBJECTIVE: To determine mutations in the SRY gene in two sisters with 46, XY karyotype. DESIGN: Case report. SETTING: Jamia Millia Islamia, New Delhi, and CSIRO Human Nutrition, Adelaide, Australia. ...CONCLUSION(S): Our results suggest involvement of the SRY gene i …
OBJECTIVE: To determine mutations in the SRY gene in two sisters with 46, XY karyotype. DESIGN: Case report. SETTING: Jamia Mi …
Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation.
Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S, Seino Y. Ninomiya S, et al. Am J Med Genet. 1995 Mar 13;56(1):31-4. doi: 10.1002/ajmg.1320560109. Am J Med Genet. 1995. PMID: 7747782 Review.
The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and/or sex reversal (SR) has led to an assignment of the CMPS1/SRA1 locus to 17q24.3-->q25.1. ...Chromosome painting indicated that the b …
The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and/or sex