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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 …
In 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian develo …
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.
Normal male genital phenotype indicates that the boy has had functioning testis during development. Torsion of the testis can cause testicular regression but in many cases the reason for vanishing testis remains elusive. ...
Normal male genital phenotype indicates that the boy has had functioning testis during development. Torsion of the testis can cause t …
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.
The secondary outcome of this review is to help physicians in appropriate sex assignment of DSD children so that development of GID in later life can be reduced. ...Typical diagnoses included were congenital adrenal hyperplasia (CAH); complete androgen insensitivity …
The secondary outcome of this review is to help physicians in appropriate sex assignment of DSD children so that development o …
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: …
PURPOSE OF REVIEW: This review focuses on the pathogenesis, diagnosis, management and long-term outcomes of disorders of sex devel …
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 unde …
Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of …
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. All affected children have non-syndro …
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY …
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 com …
Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dy …
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood.
Colindres JV, Axelrad M, McCullough L, Smith EO, Huang GO, Tu DD, Bercaw-Pratt JL, Cheni MJ, Mendiratta M, Gunn S, Sutton R, Macias C, Karaviti LP. Colindres JV, et al. Pediatr Endocrinol Rev. 2016 Mar;13(3):585-601. Pediatr Endocrinol Rev. 2016. PMID: 27116846 Review.
45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. ...This review d …
45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, …
46,XY disorders of sex development (DSD).
Mendonca BB, Domenice S, Arnhold IJ, Costa EM. Mendonca BB, et al. Clin Endocrinol (Oxf). 2009 Feb;70(2):173-87. doi: 10.1111/j.1365-2265.2008.03392.x. Clin Endocrinol (Oxf). 2009. PMID: 18811725 Review.
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. ...In this review we present an update on 46,XY DSD aetiology, diagnosis and tre …
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gona …
149 results