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Year Number of Results
1958 1
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1964 3
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1967 3
1968 3
1969 3
1970 2
1971 1
1974 1
1976 2
1977 4
1978 2
1979 1
1980 4
1981 3
1982 6
1983 2
1984 2
1985 4
1986 3
1987 3
1988 3
1990 3
1991 3
1992 4
1993 1
1994 5
1995 3
1996 2
1997 3
1998 3
1999 5
2000 3
2001 9
2002 8
2003 5
2004 7
2005 12
2006 8
2007 14
2008 18
2009 12
2010 14
2011 8
2012 10
2013 15
2014 3
2015 11
2016 15
2017 11
2018 6
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2020 14
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2024 5

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306 results

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Page 1
A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia.
Ambachew R, Gulilat A, Aberra T, Terefework Z, Bedilu W, Tarekegn G, Reja A. Ambachew R, et al. Endocrinol Diabetes Metab Case Rep. 2022 Feb 1;2022:21-0103. doi: 10.1530/EDM-21-0103. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2022. PMID: 35142292 Free PMC article.
SUMMARY: Mayer-Rokitansky-Kuster-Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries, whereas gonadal dysgenesis is a p …
SUMMARY: Mayer-Rokitansky-Kuster-Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of …
Poreless eggshells.
Lin H, Matzuk MM. Lin H, et al. J Clin Invest. 2015 Nov 2;125(11):4005-7. doi: 10.1172/JCI84692. Epub 2015 Oct 20. J Clin Invest. 2015. PMID: 26485282 Free PMC article.
Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.
Huang H, Wang CQ, Tian QJ. Huang H, et al. Gynecol Endocrinol. 2016 Dec;32(12):995-998. doi: 10.1080/09513590.2016.1190820. Epub 2016 Jun 2. Gynecol Endocrinol. 2016. PMID: 27250571
The objective of the study is to summarize the clinical characteristics of 33 patients' cohort (46,XX pure gonadal dysgenesis, 46,XX PGD), discuss the management, and propose treatment suggestions. ...The incidence of osteopenia changed from 69.70% to 22.22% and tha …
The objective of the study is to summarize the clinical characteristics of 33 patients' cohort (46,XX pure gonadal dysgenesis, …
46,XX sex reversal.
Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP. Zenteno-Ruiz JC, et al. Arch Med Res. 2001 Nov-Dec;32(6):559-66. doi: 10.1016/s0188-4409(01)00322-8. Arch Med Res. 2001. PMID: 11750731 Review.
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB. Domenice S, et al. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Birth Defects Res C Embryo Today. 2016. PMID: 28033660 Free PMC article. Review.
46,XX DSD: the masculinised female.
Auchus RJ, Chang AY. Auchus RJ, et al. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):219-42. doi: 10.1016/j.beem.2009.11.001. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541149 Review.
Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.
Ragitha TS, Sunish KS, Gilvaz S, Daniel S, Varghese PR, Raj S, Francis J, Suresh Kumar R. Ragitha TS, et al. Gene. 2023 Apr 20;861:147236. doi: 10.1016/j.gene.2023.147236. Epub 2023 Feb 2. Gene. 2023. PMID: 36738897
Developmental disruption of the Mullerian duct and gonads in females leads to Mullerian agenesis and gonadal dysgenesis, respectively. These two structural abnormalities are coming under the 46,XX DSD (Disorders of Sexual Development) classification, the majority of …
Developmental disruption of the Mullerian duct and gonads in females leads to Mullerian agenesis and gonadal dysgenesis, respe …
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.
Manne S, Veeraabhinav CH, Jetti M, Himabindu Y, Donthu K, Badireddy M. Manne S, et al. J Hum Reprod Sci. 2016 Oct-Dec;9(4):263-266. doi: 10.4103/0974-1208.197694. J Hum Reprod Sci. 2016. PMID: 28216916 Free PMC article.
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. ...The coexistence of both these disorders is extremely rare. Here, we …
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, …
Unusual combination of acute aortic dissection, Mayer-Rokitansky-Kuster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report.
Zeng Y, Hu Y, Jiang B, Tan L, Tang H. Zeng Y, et al. Front Cardiovasc Med. 2022 Nov 10;9:1030160. doi: 10.3389/fcvm.2022.1030160. eCollection 2022. Front Cardiovasc Med. 2022. PMID: 36440024 Free PMC article.
Finally, her abnormalities in the reproductive system were diagnosed as MRKH syndrome and 46,XX gonadal dysgenesis. Whole-exome sequencing (WES) in the patient found an SNP variant of ACTA2 c.773G>A and MYH11 c.5081A>G. ...CONCLUSION: To our knowledge, we repo …
Finally, her abnormalities in the reproductive system were diagnosed as MRKH syndrome and 46,XX gonadal dysgenesis. Whole-exom …
306 results