Results 91 to 100 of about 50,074,769 (205)

Detection of Y mosaicism in gonadal dysgenesis [PDF]

, 1999
Objective: The presence of Y chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y ...
배상욱, 김세광
core  

A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis

, 2012
SRY, located on the Y chromosome, is one of the key genes involved in human sex determination. SRY mutations are responsible for 10-15% of all cases of 46,XY gonadal dysgenesis (GD) but are rarely implicated in the pathogenesis of mixed ...
Birraux, Jacques Maurice, Morel, Yves, Klee, Philippe, Dahoun, Sophie, Dirlewanger, Mijam, Girardin, Céline, Plotton, Ingrid, Rougemont-Pidoux, Anne-Laure, Bena, Frédérique, Schwitzgebel Luscher, Valérie, Plotton I, Béna F, Girardin C, Dahoun S, Klee P, Schwitzgebel VM, Morel Y, Dirlewanger M, Rougemont AL, Birraux J   +19 more
core   +1 more source

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development

Brazilian Journal of Medical and Biological Research, 2011
Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding.
J.L. Cunha, F.C. Soardi, R.D. Bernardi, L.E.C. Oliveira, C.E. Benedetti, G. Guerra-Junior, A.T. Maciel-Guerra, M.P. de Mello   +7 more
doaj   +2 more sources

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

Archives of Endocrinology and Metabolism
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior   +7 more
doaj   +1 more source

Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature

JCRPE
Gonadoblastoma is a rare gonadal tumor composed of sex cord cells and primitive germ cells. While the majority of gonadoblastomas are found in individuals with 46,XY gonadal dysgenesis, they are also rarely seen in patients with a 46,XX karyotype.
Tugce Kandemir, Esin Karakilic Ozturan, Ozlem Dural, Ayca Dilruba Aslanger, Elif Inan Balci, Aysel Bayram, Semen Onder, Asli Derya Kardelen, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler   +11 more
doaj   +1 more source

46,xy And 45,x/46,xy Testicular Dysgenesis: Similar Gonadal And Genital Phenotype, Different Prognosis.

, 2015
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis ...
Andrade, Juliana Gabriel Ribeiro de, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil   +2 more
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Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.

, 1978
We have studied two female newborns with comptomelic dwarfism, XY-gonadal dysgenesis and chromosome anomalies. The preponderance of females among the hitherto reported cases of this allegedly autosomal recessive form of lethal drawfism may be due to an
Hoefnagel, D, Dupree, W B, Wuster-Hill, D H, Fuld, G L, Benirschke, K   +4 more
core   +1 more source

Female phenotype associated with XY karyotype: report of a case with gonadal dysgenesis. [PDF]

, 1969
The 3 conditions that should be considered in the differential diagnosis of individual ls of predominantly female phenotype who prove to be chromatin negative and 10 have an XY karyotype a re male pseudohermaphrodilism.
Pepler, WJ, Smith, M
core   +1 more source

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

, 2010
The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box.
Andréa Trevas Maciel-Guerra, Juliana Godoy Assumpção, Antônia Paula Marques-de-Faria, Tammy Mazeo Castro, Maricilda Palandi de Mello, Fernanda Borchers Coeli, Maria Tereza Matias Baptista, Gil Guerra-Júnior   +7 more
core   +1 more source

Pure gonadal (46, XY) dysgenesis--an XY female.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1975
A case of pure gonadal dysgenesis is reported, the patient having a 46,XY genotype associated with female internal and external genitalia and bilateral streak gonads. The rarity of this syndrome is stressed. Reasons for not regarding this syndrome as synonymous with Swyer's syndrome are given.
R L, Cheifitz, M, Katz
openaire   +1 more source