46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
J Clin Endocrinol Metab. 2015.
PMID: 25927242
Free PMC article.
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Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
J Clin Endocrinol Metab. 2004.
PMID: 15356051
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Hormones (Athens). 2019.
PMID: 31240586
Search results
Page 1
Swyer syndrome.
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 …
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Hormones (Athens). 2019 Sep;18(3):315-320. doi: 10.1007/s42000-019-00116-6. Epub 2019 Jun 25.
Hormones (Athens). 2019.
PMID: 31240586
PURPOSE: Disorders of sex development (DSD) have been linked to gene defects that lead to gonadal dysgenesis. Herein, we aimed to identify the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea tracing it to a phenotypic female c …
PURPOSE: Disorders of sex development (DSD) have been linked to gene defects that lead to gonadal dysgenesis. Herein, we aimed …
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
J Clin Endocrinol Metab. 2015 Jul;100(7):E1022-9. doi: 10.1210/jc.2015-1314. Epub 2015 Apr 30.
J Clin Endocrinol Metab. 2015.
PMID: 25927242
Free PMC article.
OBJECTIVE: The objective of the study was to identify the genetic cause in two 46,XY sisters of a consanguineous family with DSD and gonadal tumor formation. ...High-resolution ultrasound revealed a structural change of peripheral nerve structure that fits we …
OBJECTIVE: The objective of the study was to identify the genetic cause in two 46,XY sisters of a consanguineous family with D …
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Hum Genet. 2020 Nov;139(11):1455-1470. doi: 10.1007/s00439-020-02189-5. Epub 2020 Jun 5.
Hum Genet. 2020.
PMID: 32504121
In humans, pathogenic variants in the DHH gene underlie cases of 46,XY gonadal dysgenesis. DHH is part of the Hedgehog family of proteins, which require extensive processing, including self-cleavage of the precursor for efficient signalli …
In humans, pathogenic variants in the DHH gene underlie cases of 46,XY gonadal dysgenesis. DHH is …
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.
Horm Metab Res. 2017 Jan;49(1):36-42. doi: 10.1055/s-0042-114778. Epub 2016 Oct 6.
Horm Metab Res. 2017.
PMID: 27711951
46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. ...The aim of this study was to identify the genetic cause in patients with 46,XY gonadal …
46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunction …
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.
Horm Res Paediatr. 2018;89(3):141-149. doi: 10.1159/000485507. Epub 2018 Feb 22.
Horm Res Paediatr. 2018.
PMID: 29471294
Review.
BACKGROUND: In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. ...In the proband and her sister, a 499-kb duplication in 9p22.1 was also found …
BACKGROUND: In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis …
Nonsyndromic Disorders of Testicular Development Overview.
2008 May 21 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2008 May 21 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301714
Free Books & Documents.
Review.
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
DNA Cell Biol. 2013 Sep;32(9):524-30. doi: 10.1089/dna.2013.2052. Epub 2013 Jun 20.
DNA Cell Biol. 2013.
PMID: 23786321
Free PMC article.
Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. ...Protein m …
Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mix …
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Mol Hum Reprod. 2011 Jun;17(6):372-8. doi: 10.1093/molehr/gar002. Epub 2011 Jan 17.
Mol Hum Reprod. 2011.
PMID: 21242195
Primary amenorrhea due to 46,XY disorders of sexual development (DSD) is complex with the involvement of several genes. ...The present study was undertaken for the genetic analysis in seven patients from five families presenting with primary amenorrhea and diagnosed …
Primary amenorrhea due to 46,XY disorders of sexual development (DSD) is complex with the involvement of several genes. ...The …
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
J Endocr Soc. 2019 Oct 10;3(12):2341-2360. doi: 10.1210/js.2019-00306. eCollection 2019 Dec 1.
J Endocr Soc. 2019.
PMID: 31745530
Free PMC article.
OBJECTIVE: We used a targeted next-generation sequencing approach to analyze known and candidate genes for DSDs in individuals with no specific molecular diagnosis. PARTICIPANTS AND DESIGN: We studied 52 adult 46,XY women attending a single-center adult service, who …
OBJECTIVE: We used a targeted next-generation sequencing approach to analyze known and candidate genes for DSDs in individuals with no speci …
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