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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 …
Xp-duplications with and without sex reversal.
Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W. Baumstark A, et al. Hum Genet. 1996 Jan;97(1):79-86. doi: 10.1007/BF00218838. Hum Genet. 1996. PMID: 8557267 Review.
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY,der …
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. W …
Role of mitochondria in steroidogenesis.
Miller WL. Miller WL. Endocr Dev. 2011;20:1-19. doi: 10.1159/000321204. Epub 2010 Dec 16. Endocr Dev. 2011. PMID: 21164254 Review.
Mutations in StAR cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by absent steroidogenesis, potentially lethal salt loss, 46, XY sex reversal and massively enlarged adrenals engorged with cholesterol esters.Non-classic lipoid C …
Mutations in StAR cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by absent steroidogenesis, potentially lethal salt …
Sex determination: lessons from families and embryos.
Ostrer H. Ostrer H. Clin Genet. 2001 Apr;59(4):207-15. doi: 10.1034/j.1399-0004.2001.590401.x. Clin Genet. 2001. PMID: 11298673 Review.
Genetic studies in familial cases of sex reversal and in human embryos have contributed to the understanding of human sex determination and its disorders. For some heritable disorders of sex reversal, the gonadal phenotype was frequently overloo …
Genetic studies in familial cases of sex reversal and in human embryos have contributed to the understanding of human sex
SF1 in the development of the adrenal gland and gonads.
Ozisik G, Achermann JC, Meeks JJ, Jameson JL. Ozisik G, et al. Horm Res. 2003;59 Suppl 1:94-8. doi: 10.1159/000067831. Horm Res. 2003. PMID: 12566727 Review.
SF1 (steroidogenic factor-1; NR5A1) is an orphan nuclear receptor that is expressed in the adrenal gland, gonads, spleen, ventromedial hypothalamus and pituitary gonadotroph cells. ...Targeted disruption of SF1 (FTZF1) in mice prevents gonadal and adrenal development and c …
SF1 (steroidogenic factor-1; NR5A1) is an orphan nuclear receptor that is expressed in the adrenal gland, gonads, spleen, ventromedia …
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
Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.
Wilkie AO, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. Wilkie AO, et al. Am J Med Genet. 1993 Jun 15;46(5):597-600. doi: 10.1002/ajmg.1320460527. Am J Med Genet. 1993. PMID: 8322827 Review.
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal g …
Molecular aspects of female and male gonadal development in mammals.
Pannetier M, Mandon-Pépin B, Copelli S, Fellous M. Pannetier M, et al. Pediatr Endocrinol Rev. 2004 Mar;1(3):274-87. Pediatr Endocrinol Rev. 2004. PMID: 16437021 Review.
This process is directed by genes that have been discovered by genetic analysis of sex-reversed patients and confirmed by knock-out experiments in mice. ...In this cascade, two genes play a crucial role in male differentiation, SOX9 and FGF9, which contribute to tes …
This process is directed by genes that have been discovered by genetic analysis of sex-reversed patients and confirmed by knoc …
The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
Ozisik G, Achermann JC, Jameson JL. Ozisik G, et al. Mol Genet Metab. 2002 Jun;76(2):85-91. doi: 10.1016/s1096-7192(02)00032-x. Mol Genet Metab. 2002. PMID: 12083805 Review.
Steroidogenic factor 1 is a monomeric orphan nuclear receptor and one of several hundreds of transcription factors encoded in the human genome. ...Recently, mutations in the gene encoding SF1 have been identified in several patients with primary adrenal failure and 46
Steroidogenic factor 1 is a monomeric orphan nuclear receptor and one of several hundreds of transcription factors encoded in the hum …
12 results