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1999 1
2001 3
2003 1
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2005 3
2006 1
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2009 2
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Page 1
Swyer syndrome.
King TF, Conway GS. King TF, et al. Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. Curr Opin Endocrinol Diabetes Obes. 2014. PMID: 25314337 Review.
In 46,XY gonadal dysgenesis, lack of testis development may be triggered by sex determining region Y, NR5A1, DHH or testis-determining gene loss-of-function mutations, DAX1 or WNT4 duplication or MAP3K1 gain-of-function mutations. ...Pregnancy is possible via ova do …
In 46,XY gonadal dysgenesis, lack of testis development may be triggered by sex determining region Y, NR5A1, DHH or testis-det …
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
Ostrer H. Ostrer H. Sex Dev. 2022;16(2-3):92-97. doi: 10.1159/000522428. Epub 2022 Mar 15. Sex Dev. 2022. PMID: 35290982 Free article. Review.
Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dysgenesis, accounting for at least 4% of cases. Inheritance occurs in a sex-limited, autosomal dominant fashion with virtually complete penetrance in 4 …
Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dysgenesis, …
Monogenic Forms of DSD: An Update.
McElreavey K, Bashamboo A. McElreavey K, et al. Horm Res Paediatr. 2023;96(2):144-168. doi: 10.1159/000521381. Epub 2021 Dec 28. Horm Res Paediatr. 2023. PMID: 34963118 Free article. Review.
BACKGROUND: DSD encompass a wide range of pathologies that impact gonad formation, development, and function in both 46,XX and 46,XY individuals. The majority of these conditions are considered to be monogenic, although the expression of the phenotype may be influen …
BACKGROUND: DSD encompass a wide range of pathologies that impact gonad formation, development, and function in both 46,XX and …
46,XX sex reversal.
Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP. Zenteno-Ruiz JC, et al. Arch Med Res. 2001 Nov-Dec;32(6):559-66. doi: 10.1016/s0188-4409(01)00322-8. Arch Med Res. 2001. PMID: 11750731 Review.
Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z, Guran T. Yavas Abalı Z, et al. Front Endocrinol (Lausanne). 2024 May 15;15:1354759. doi: 10.3389/fendo.2024.1354759. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38812815 Free PMC article. Review.
The most common cause of 46,XX disorders/differences in sex development (DSD) is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, comprising >90% of 46,XX DSD cases. ...These etiologies include primary glucocorticoid resistance …
The most common cause of 46,XX disorders/differences in sex development (DSD) is congenital adrenal hyperplasia (CAH) due to 2 …
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB. Domenice S, et al. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Birth Defects Res C Embryo Today. 2016. PMID: 28033660 Free PMC article. Review.
In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). ...Notably, an undervir …
In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,X
What Does AMH Tell Us in Pediatric Disorders of Sex Development?
Josso N, Rey RA. Josso N, et al. Front Endocrinol (Lausanne). 2020 Sep 8;11:619. doi: 10.3389/fendo.2020.00619. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 33013698 Free PMC article. Review.
In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. Virilization of a 46,XX newborn indicates androgen action during fetal development, either from testicula …
In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androge …
Human sex-determination and disorders of sex-development (DSD).
Bashamboo A, McElreavey K. Bashamboo A, et al. Semin Cell Dev Biol. 2015 Sep;45:77-83. doi: 10.1016/j.semcdb.2015.10.030. Epub 2015 Oct 23. Semin Cell Dev Biol. 2015. PMID: 26526145 Review.
SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with virilization in 46,XX individuals or with 46,XY gonadal dysgenesis. Furthermore, mutations involving another key …
SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with v …
Steroidogenic factor-1 and human disease.
El-Khairi R, Achermann JC. El-Khairi R, et al. Semin Reprod Med. 2012 Oct;30(5):374-81. doi: 10.1055/s-0032-1324720. Epub 2012 Oct 8. Semin Reprod Med. 2012. PMID: 23044873 Free PMC article. Review.
In 46,XY disorders of sex development, a spectrum of phenotypes has been reported including severe and partial forms of gonadal (testicular) dysgenesis, hypospadias, anorchia with microphallus, and even male factor infertility. In 46,XX females, altera …
In 46,XY disorders of sex development, a spectrum of phenotypes has been reported including severe and partial forms of gonadal (test …
Disorders of Sex Development in Office Practice.
Priyadarshini S, Sharma R. Priyadarshini S, et al. Indian J Pediatr. 2023 Oct;90(10):1030-1037. doi: 10.1007/s12098-023-04640-7. Epub 2023 Jun 24. Indian J Pediatr. 2023. PMID: 37354346 Review.
Disorders of sex development (DSD) is a broad term for congenital conditions with a discrepancy in chromosomal, gonadal, or anatomic sex. Pediatricians are often faced with the challenge of managing a newborn/infant with atypical genitalia or an older child with disordered …
Disorders of sex development (DSD) is a broad term for congenital conditions with a discrepancy in chromosomal, gonadal, or anatomic …
69 results