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Year Number of Results
1976 1
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1987 4
1988 3
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1990 1
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1992 2
1993 7
1994 2
1995 2
1996 1
1997 1
1998 3
1999 8
2000 3
2001 3
2002 3
2003 4
2004 4
2005 7
2006 3
2007 4
2008 5
2009 8
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2015 9
2016 6
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2024 0

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187 results

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Page 1
Genetics of 46,XY gonadal dysgenesis.
Elzaiat M, McElreavey K, Bashamboo A. Elzaiat M, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101633. doi: 10.1016/j.beem.2022.101633. Epub 2022 Feb 25. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 35249806 Review.
In 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian development. Disruption of this process results in a lack of testis-determination and affected individuals present with 46,XY gonada
In 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian developme …
Genetics of cryptorchidism and testicular regression.
Elamo HP, Virtanen HE, Toppari J. Elamo HP, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101619. doi: 10.1016/j.beem.2022.101619. Epub 2022 Feb 4. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 35193821 Free article. Review.
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.
Babu R, Shah U. Babu R, et al. J Pediatr Urol. 2021 Feb;17(1):39-47. doi: 10.1016/j.jpurol.2020.11.017. Epub 2020 Nov 12. J Pediatr Urol. 2021. PMID: 33246831 Review.
Typical diagnoses included were congenital adrenal hyperplasia (CAH); complete androgen insensitivity syndrome (CAIS); partial androgen insensitivity syndrome (PAIS); 5 alpha reductase deficiency (5ARD); 17-hydroxysteroid dehydrogenase deficiency (17HSD); mixed gonadal
Typical diagnoses included were congenital adrenal hyperplasia (CAH); complete androgen insensitivity syndrome (CAIS); partial androgen inse …
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.
PURPOSE OF REVIEW: This review focuses on the pathogenesis, diagnosis, management and long-term outcomes of disorders of sex development, specifically women with Swyer syndrome (46,XY complete gonadal dysgenesis). RECENT FINDINGS: Recent discoveries ha …
PURPOSE OF REVIEW: This review focuses on the pathogenesis, diagnosis, management and long-term outcomes of disorders of sex development, sp …
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 p …
Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dy
DHX37 and 46,XY DSD: A New Ribosomopathy?
McElreavey K, Pailhoux E, Bashamboo A. McElreavey K, et al. Sex Dev. 2022;16(2-3):194-206. doi: 10.1159/000522004. Epub 2022 Jul 14. Sex Dev. 2022. PMID: 35835064 Free article. Review.
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. ...
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY
NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
Wei X, Li S, He Y. Wei X, et al. Medicine (Baltimore). 2023 Dec 29;102(52):e36725. doi: 10.1097/MD.0000000000036725. Medicine (Baltimore). 2023. PMID: 38206718 Free PMC article. Review.
NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD. ...The individual exhibited testicular hypoplasia, clitoral hypertrop …
NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and p …
Challenges Waiting for an Adult with DSD.
Nowotny HF, Reisch N. Nowotny HF, et al. Horm Res Paediatr. 2023;96(2):207-221. doi: 10.1159/000527433. Epub 2022 Dec 6. Horm Res Paediatr. 2023. PMID: 36473446 Free article. Review.
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, …
187 results