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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 1
1966 1
1967 1
1968 1
1969 1
1970 1
1973 1
1975 2
1976 1
1979 7
1980 9
1981 1
1982 4
1983 2
1984 6
1985 2
1987 8
1988 7
1989 6
1990 4
1991 6
1992 13
1993 14
1994 4
1995 8
1996 6
1997 6
1998 17
1999 12
2000 10
2001 13
2002 11
2003 7
2004 15
2005 14
2006 19
2007 14
2008 15
2009 17
2010 23
2011 16
2012 14
2013 9
2014 18
2015 12
2016 8
2017 14
2018 9
2019 14
2020 16
2021 13
2022 14
2023 11
2024 0

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446 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 …
Male Hypogonadism and Disorders of Sex Development.
Grinspon RP, Bergadá I, Rey RA. Grinspon RP, et al. Front Endocrinol (Lausanne). 2020 Apr 15;11:211. doi: 10.3389/fendo.2020.00211. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32351452 Free PMC article. Review.
Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex. In XY individuals, the process of fetal sex differentiation can be disrupted at the stage of gonadal
Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, an …
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.
., undescended testis, is one of the most common genital malformations in newborn male babies. The birth rate of cryptorchidism varies from 1.6 to 9.0 %. ...Testicular regression can also cause an empty scrotum. Normal male genital phenotype indicates that the boy h …
., undescended testis, is one of the most common genital malformations in newborn male babies. The birth rate of cryptorchidism varie …
Micropenis.
Khadilkar V, Mondkar SA. Khadilkar V, et al. Indian J Pediatr. 2023 Jun;90(6):598-604. doi: 10.1007/s12098-023-04540-w. Epub 2023 Apr 20. Indian J Pediatr. 2023. PMID: 37079255 Review.
Hypothalamo-pituitary disorders (gonadotropin or growth hormone deficiencies), genetic syndromes, partial gonadal dysgenesis, testicular regression, disorders of testosterone biosynthesis and action constitute the various etiologies of micropenis. ...
Hypothalamo-pituitary disorders (gonadotropin or growth hormone deficiencies), genetic syndromes, partial gonadal dysgenesis, …
Turner's syndrome.
Ranke MB, Saenger P. Ranke MB, et al. Lancet. 2001 Jul 28;358(9278):309-14. doi: 10.1016/S0140-6736(01)05487-3. Lancet. 2001. PMID: 11498234 Review.
Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormali …
Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by …
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 …
Neuroendocrine mechanisms of reproduction.
Garg D, Berga SL. Garg D, et al. Handb Clin Neurol. 2020;171:3-23. doi: 10.1016/B978-0-444-64239-4.00001-1. Handb Clin Neurol. 2020. PMID: 32736757 Review.
The neuroendocrinology of reproduction focuses on the neuromodulation of gonadotropin-releasing hormone (GnRH), the ontogeny of the hypothalamic-pituitary-gonadal axis, and common reproductive events and conditions, namely, puberty, the menstrual cycle, and disorders of re …
The neuroendocrinology of reproduction focuses on the neuromodulation of gonadotropin-releasing hormone (GnRH), the ontogeny of the hypothal …
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
446 results