Partial gonadal dysgenesis in a patient with a marker Y chromosome

1992 ◽  
Vol 42 (6) ◽  
pp. 807-812 ◽  
Author(s):  
Patricia Y. Fechner ◽  
Kirby D. Smith ◽  
Ethylin Wang Jabs ◽  
Claude J. Migeon ◽  
Gary D. Berkovitz
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Partial Gonadal Dysgenesis

scholarly journals Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

2013 ◽  
Vol 14 (1) ◽  
Author(s):  
Ana Paula dos Santos ◽  
Juliana Gabriel Ribeiro Andrade ◽  
Cristiane Santos Cruz Piveta ◽  
Juliana de Paulo ◽  
Gil Guerra-Junior ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Y Chromosome Microdeletions ◽  
Partial Gonadal Dysgenesis

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

2016 ◽  
Vol 10 (4) ◽  
pp. 191-199 ◽  
Author(s):  
Helena C. Fabbri ◽  
Juliana G. Ribeiro de Andrade ◽  
Andréa T. Maciel-Guerra ◽  
Gil Guerra-Júnior ◽  
Maricilda P. de Mello
Keyword(s):  
Gonadal Dysgenesis ◽  
Loss Of Function ◽  
Novel Mutations ◽  
Partial Gonadal Dysgenesis

scholarly journals Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome

1998 ◽  
Vol 63 (3) ◽  
pp. 901-905 ◽  
Author(s):  
R.A. Veitia ◽  
M. Nunes ◽  
L. Quintana-Murci ◽  
R. Rappaport ◽  
E. Thibaud ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Partial Gonadal Dysgenesis ◽  
Swyer Syndrome

A Novel Heterozygous Missense Variant of theFGFR2Gene in Two 46,XY Sisters with Non-Syndromic Partial Gonadal Dysgenesis

2011 ◽  
pp. P2-168-P2-168
Author(s):  
Aline Zamboni Machado ◽  
Mariza Gerdulo Santos ◽  
Mirian Yumie Nishi ◽  
Maira Pontual Brandao ◽  
Elaine Maria Frade Costa ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Missense Variant ◽  
Partial Gonadal Dysgenesis

The importance of determining karyotype in premenarchal females with gonadal dysgerminoma: two case reports

1991 ◽  
Vol 1 (3) ◽  
pp. 141-143 ◽  
Author(s):  
M. A. Steller ◽  
J. T. Soper ◽  
C. A. Szpak ◽  
J. T. Lanman ◽  
D. L. Clark-Pearson
Keyword(s):  
Germ Cell ◽  
Y Chromosome ◽  
Surgical Management ◽  
Gonadal Dysgenesis ◽  
Case Reports ◽  
Normal Appearance ◽  
Xy Gonadal Dysgenesis ◽  
Nulliparous Women ◽  
Female Genital ◽  
Cell Malignancy

Gonadal dysgerminomas developed in two girls, aged 12 and 15 years. Both were initially treated with conservative unilateral gonadectomy. Forty-six, XY gonadal dysgenesis was not suspected in either patient due to the normal appearance of the contralateral gonads and internal female genital organs. One died of a second germ cell malignancy which developed in the contralateral ovary 9½ years later. The diagnosis of 46, XY gonadal dysgenesis was established by karyotype in both patients. Although conservative surgical management is desirable for nulliparous women with unilateral dysgerminomas, the presence of 46, XY gonadal dysgenesis should be suspected in all premenarchal girls with ovarian germ cell malignancies. If karyotyping reveals the presence of an Y chromosome, bilateral gonadectomy is indicated because of the risk that another neoplasm may develop in the contralateral ovary.

Gonadal dysgenesis with mosaicism and a nonfluorescent Y chromosome: Report of two cases with correlation of clinical, pathologic, and cytogenetic findings

1980 ◽  
Vol 136 (5) ◽  
pp. 639-645 ◽  
Author(s):  
W.R.Scott Curtis ◽  
Beverly J. White ◽  
Anne W. Lucky ◽  
Nan Roche-Bender ◽  
Douglas R. Knab ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis

46,XY pure gonadal dysgenesis with non-fluorescent Y chromosome

2008 ◽  
Vol 14 (2) ◽  
pp. 83-89 ◽  
Author(s):  
M. Gaál ◽  
J. László ◽  
P. Bósze
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis
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