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Items: 1 to 20 of 30

1.

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.

Baldinotti F, Cavallaro T, Dati E, Baroncelli GI, Bertini V, Valetto A, Massart F, Fabrizi GM, Zanette G, Peroni D, Bertelloni S.

Horm Res Paediatr. 2018;89(3):141-149. doi: 10.1159/000485507. Epub 2018 Feb 22. Review.

PMID:
29471294
2.

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.

J Hum Reprod Sci. 2016 Oct-Dec;9(4):263-266. doi: 10.4103/0974-1208.197694.

3.

Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.

Huang H, Wang CQ, Tian QJ.

Gynecol Endocrinol. 2016 Dec;32(12):995-998. Epub 2016 Jun 2.

PMID:
27250571
4.

Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature.

Shah VN, Ganatra PJ, Parikh R, Kamdar P, Baxi S, Shah N.

Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S274-7. doi: 10.4103/2230-8210.119605.

5.

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature.

Kebaili S, Chaabane K, Mnif MF, Kamoun M, Kacem FH, Guesmi N, Gassara H, Dammak A, Louati D, Amouri H, Guermazi M.

Indian J Endocrinol Metab. 2013 May;17(3):505-8. doi: 10.4103/2230-8210.111663.

6.

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A.

Horm Res Paediatr. 2012;78(2):119-26. Epub 2012 Aug 14.

PMID:
22907560
7.

Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report.

Bousfiha N, Errarhay S, Saadi H, Ouldim K, Bouchikhi C, Banani A.

Obstet Gynecol Int. 2010;2010:847370. doi: 10.1155/2010/847370. Epub 2010 Dec 29.

8.

Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis.

Namavar-Jahromi B, Mohit M, Kumar PV.

Saudi Med J. 2005 May;26(5):872-4.

PMID:
15951888
9.

No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis.

de la Chesnaye E, Canto P, Ulloa-Aguirre A, Méndez JP.

Am J Med Genet. 2001 Jan 15;98(2):125-8.

PMID:
11223847
10.

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.

Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR.

Am J Med Genet. 2001 Jan 15;98(2):121-4.

PMID:
11223846
11.

Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.

Lim HN, Berkovitz GD, Hughes IA, Hawkins JR.

Hum Genet. 2000 Dec;107(6):650-2. Epub 2000 Nov 14. Erratum in: Hum Genet. 2004 Aug;115(3):263.

PMID:
11153920
12.

Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.

Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS.

Hum Reprod. 1999 May;14(5):1207-12.

PMID:
10325262
13.

Dysgerminoma with syncytiotrophoblastic giant cells arising from 46,XX pure gonadal dysgenesis.

Morimura Y, Nishiyama H, Yanagida K, Sato A.

Obstet Gynecol. 1998 Oct;92(4 Pt 2):654-6.

PMID:
9764651
14.

Dysgerminoma and gonadal dysgenesis in a 46,XX female with no evidence of Y chromosomal DNA.

Letterie GS, Page DC.

Gynecol Oncol. 1995 Jun;57(3):423-5.

PMID:
7774849
15.

Mixed gonadal dysgenesis with 45, X/46, XX/46, XY mosaicism.

Shreenlwas, Kher A, Datta S, Kanade S, Valdya M, Bharucha BA.

Indian J Pediatr. 1994 Jul-Aug;61(4):445-6. No abstract available.

PMID:
8002080
16.

46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3 beta-hydroxysteroid dehydrogenase activity.

Sills IN, Rapaport R, Skuza KA, Horlick MN.

Am J Med Genet. 1992 Jan 1;42(1):100-3.

PMID:
1339198
17.

46,XX gonadal dysgenesis with epibulbar dermoid.

Quayle SA, Copeland KC.

Am J Med Genet. 1991 Jul 1;40(1):75-6.

PMID:
1909490
18.

Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis.

Waibel F, Scherer G, Fraccaro M, Hustinx TW, Weissenbach J, Wieland J, Mayerová A, Back E, Wolf U.

Hum Genet. 1987 Aug;76(4):332-6.

PMID:
3038732
19.

Familial 46,XX gonadal dysgenesis.

Portuondo JA, Neyro JL, Benito JA, de los Rios A, Barral A.

Int J Fertil. 1987 Jan-Feb;32(1):56-8.

PMID:
2880817
20.

[Familial streak gonad syndrome with 46,XX karyotype (pure gonadal dysgenesis)].

Tóth A, Gaál M, Bösze P, Komora V, László J.

Orv Hetil. 1985 Mar 3;126(9):527-9. Hungarian. No abstract available.

PMID:
3991192

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