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Year Number of Results
1976 1
1979 3
1980 2
1984 1
1987 3
1988 3
1990 1
1991 2
1992 1
1993 6
1994 2
1995 2
1997 1
1998 1
1999 8
2000 3
2001 2
2002 3
2003 2
2004 3
2005 4
2006 3
2007 3
2008 4
2009 7
2010 7
2011 8
2012 8
2013 5
2014 7
2015 5
2016 3
2017 7
2018 4
2019 7
2020 9
2021 4
2022 9
2023 4

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144 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 …
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 …
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 …
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 …
Review and management of 46,XY disorders of sex development.
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP. Massanyi EZ, et al. J Pediatr Urol. 2013 Jun;9(3):368-79. doi: 10.1016/j.jpurol.2012.12.002. Epub 2012 Dec 29. J Pediatr Urol. 2013. PMID: 23276787 Review.
Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization …
Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, …
Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review.
Zhang X, Zhang Y, Wang J, Yang J, Yu S, Yin M, Li S, Yang J. Zhang X, et al. Curr Oncol. 2022 Dec 8;29(12):9753-9759. doi: 10.3390/curroncol29120766. Curr Oncol. 2022. PMID: 36547180 Free PMC article. Review.
A female phenotype with strip-like gonads, 46, XY pure gonadal dysgenesis (PGD) has a high tendency to develop into gonadal germ cell tumors. We described one patient with 46, XY PGD, who had a gonadal mixed germ cell …
A female phenotype with strip-like gonads, 46, XY pure gonadal dysgenesis (PGD) has a high tendency to de …
Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.
Coelingh Bennink HJT, Egberts JFM, Mol JA, Roes KCB, van Diest PJ. Coelingh Bennink HJT, et al. J Clin Endocrinol Metab. 2020 Sep 1;105(9):dgaa404. doi: 10.1210/clinem/dgaa404. J Clin Endocrinol Metab. 2020. PMID: 32594127 Review.
We have searched the literature for information on the risk of breast cancer (BC) in relation to gender, breast development, and gonadal function in the following 8 populations: 1) females with the Turner syndrome (45, XO); 2) females and males with congenital hypogonadotr …
We have searched the literature for information on the risk of breast cancer (BC) in relation to gender, breast development, and gonadal …
144 results