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46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S. Mendonca BB, et al. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541150 Review.
The differentiation of Leydig cells from mesenchymal cells is the first walk for testosterone production. In 46,XY disorders of sex development (DSDs) due to Leydig cell hypoplasia, there is a failure in intrauterine and postnatal virilisation due to t …
The differentiation of Leydig cells from mesenchymal cells is the first walk for testosterone production. In 46,XY disorders o …
Consanguinity and disorders of sex development.
Bashamboo A, McElreavey K. Bashamboo A, et al. Hum Hered. 2014;77(1-4):108-17. doi: 10.1159/000360763. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060274 Free article. Review.
Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. ...Overall there is an indication that consanguinity …
Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonad …
Defects in androgen biosynthesis causing 46,XY disorders of sexual development.
Auchus RJ, Miller WL. Auchus RJ, et al. Semin Reprod Med. 2012 Oct;30(5):417-26. doi: 10.1055/s-0032-1324726. Epub 2012 Oct 8. Semin Reprod Med. 2012. PMID: 23044879 Review.
For some steps, such as the conversion of cholesterol to pregnenolone and the 17,20-lyase reaction, two or three genetic defects cause similar disorders with overlapping phenotypes and biochemical profiles. ...Thus, both the classic and backdoor pathways are needed, …
For some steps, such as the conversion of cholesterol to pregnenolone and the 17,20-lyase reaction, two or three genetic defects …
Genetic defects in pregnenolone synthesis.
Katsumata N. Katsumata N. Pediatr Endocrinol Rev. 2012 Oct;10 Suppl 1:98-109. Pediatr Endocrinol Rev. 2012. PMID: 23330251 Review.
The pregnenolone synthesis is the first step in the biosynthesis of all steroid hormones. ...Now genetic and phenotypic variations have been elucidated in pregnenolone synthesis defects; mutations in the CYP11A1 gene encoding cholesterol side-chain cle …
The pregnenolone synthesis is the first step in the biosynthesis of all steroid hormones. ...Now genetic and phenotypic variations ha …
Disorders in the initial steps of steroid hormone synthesis.
Miller WL. Miller WL. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):18-37. doi: 10.1016/j.jsbmb.2016.03.009. Epub 2016 Mar 6. J Steroid Biochem Mol Biol. 2017. PMID: 26960203 Review.
Severe StAR mutations cause classic congenital lipoid adrenal hyperplasia, characterized by lipid accumulation in the adrenal, adrenal insufficiency, and disordered sexual development in 46,XY individuals. The lipoid CAH phenotype, including spontaneous puber …
Severe StAR mutations cause classic congenital lipoid adrenal hyperplasia, characterized by lipid accumulation in the adrenal, adrenal insuf …
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). ...However, recently found mutations in AKR1C2/4 genes in undervirilized 46,XY individuals have established a role for a novel, alternative, backdoo …
Defects of androgen biosynthesis cause 46,XY disorder of sexual development (DSD). ...However, recently f …