Results 71 to 80 of about 2,312 (175)

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

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

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report

Medicine
Background: Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or androgen synthesis.
Tengge Yu, Li Liu
openaire   +2 more sources

Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development

Frontiers in Endocrinology
The RNA helicase DHX37 gene is involved in ribosomal biological processes, and linked to human genetic diseases associated with 46,XY disorders of sex development (46,XY DSD) or neurodevelopment. Recently, relevant reports have primarily focused on 46,XY
Huifang Peng, Wenyuan Peng, Jiali Chen, Keyan Hu, Yingyu Zhang, Yujin Ma, Hongwei Jiang   +6 more
doaj   +1 more source

46,XY Gonadal Dysgenesis [PDF]

, 2020
openaire   +1 more source

EMBARAZO EXITOSO EN PACIENTE CON DISGENESIA GONADAL PURA

Medicina, 2010
<h3>Resumen</h3><p><em>Objetivo</em>: Reporte de un caso de embarazo exitoso en una paciente con disgenesia gonadal pura.<br /><em>Diseño de estudio:</em> Informe de caso.<br /><em>Lugar</em ...
Claudia Ortiz A., Ricardo Rueda G., Ricardo Rueda S., Johana Marroquín C.   +3 more
doaj  

46,XY partial gonadal dysgenesis [PDF]

, 2020
openaire   +1 more source

46,XY complete gonadal dysgenesis [PDF]

, 2020
openaire   +1 more source