Results 101 to 110 of about 50,074,769 (205)

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

A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation

, 1993
We report a case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. An eight month-old patient was admitted to our endocrinology department for evaluation of ambiguous genitalia.
Ozen, E., Buyukgebiz, A., Ünsal, Şevket, Akcoral, A., Ören, Hale, Sakizli, M.   +5 more
core   +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 complete gonadal dysgenesis [PDF]

, 2020
openaire   +1 more source

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

, 2007
Context: Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect.
Schoumans, Jacqueline, Staaf, Johan, Staaf, J, Wedell, Anna, Barbaro, Michela, Oscarson, M,, Ivarsson, Sten, Schoumans, J,, Barbaro, M,, Oscarson, Mikael, Ivarsson, SA, Wedell, A,, Ivarsson, Sten,, Lund University., Staaf, Johan,   +14 more
core   +1 more source

46,XY gonadal dysgenesis

46,XY gonadna disgeneza (GD) je jedan od poremećaja diferencijacije spola u kojeg se javlja nesklad između kromosomskog, fenotipskog i anatomskog spola. Dijeli se, ovisno o fenotipu i kariotipu, na kompletnu, parcijalnu ili miješanu 45,X/46,XY.
Radin, Iva
core   +1 more source

46,XY partial gonadal dysgenesis [PDF]

, 2020
openaire   +1 more source

Spectrum and clinical profile of disorders of sex development: A 10 year experience at a tertiary care center. [PDF]

Pak J Med Sci
Aslam N, Aftab S, Naseer Khan B, Noor-E-Hira.   +3 more
europepmc   +1 more source