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Steroidogenesis of the testis -- new genes and pathways.
Flück CE, Pandey AV. Flück CE, et al. Ann Endocrinol (Paris). 2014 May;75(2):40-7. doi: 10.1016/j.ando.2014.03.002. Epub 2014 Apr 29. Ann Endocrinol (Paris). 2014. PMID: 24793988 Review.
Defects of androgen biosynthesis cause 46,XY disorder of sexual development (DSD). All steroids are produced from cholesterol and the early steps of steroidogenesis are common to mineralocorticoid, glucocorticoid and sex steroid production. ...Therefore 46 …
Defects of androgen biosynthesis cause 46,XY disorder of sexual development (DSD). All steroids are produced from cholesterol …
Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review.
Zhu J, Liu X, Jin H, Lu X. Zhu J, et al. Clin Exp Obstet Gynecol. 2011;38(4):414-8. Clin Exp Obstet Gynecol. 2011. PMID: 22268289 Review.
BACKGROUND: Swyer syndrome, 46,XY gonadal dysgenesis, is a sex reversal disorder with a female phenotype. Germ cell tumors, including dysgerminoma, may arise in streak gonads of patients with gonadal dysgenesis. CASE: A 22-year-old female patient with …
BACKGROUND: Swyer syndrome, 46,XY gonadal dysgenesis, is a sex reversal disorder with a female phenotype. Germ c …
WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.
Dai YL, Fu JF, Hong F, Xu S, Shen Z. Dai YL, et al. Acta Paediatr. 2011 Jul;100(7):e39-42. doi: 10.1111/j.1651-2227.2011.02167.x. Epub 2011 Feb 14. Acta Paediatr. 2011. PMID: 21314844 Review.
AIM: The Wilms' Tumour gene is thought to have tumour suppressor activity and to play an important role in nephrogenesis, genitourinary development, haematopoiesis and sex determination. WT1 mutations will impair gonadal and urinary tract development and have been demonstr …
AIM: The Wilms' Tumour gene is thought to have tumour suppressor activity and to play an important role in nephrogenesis, genitourinary deve …
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 …