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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 …
XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.
McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL. McDonald MT, et al. Am J Med Genet. 1997 Dec 19;73(3):321-6. Am J Med Genet. 1997. PMID: 9415692 Free article. Review.
We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9 …
We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a fa …