Results 31 to 40 of about 59,164,861 (73)

Abnormalities of gonadal differentiation

open access: yes, 1998
Gonadal differentiation involves a complex interplay of developmental pathways. The sex determining region Y ( SRY) gene plays a key role in testis determination, but its interaction with other genes is less well understood.
Seeherunvong, Tossaporn   +1 more
core   +1 more source

Investigação de marcadores do cromossomo Y em casos de Síndrome de Turner e Disgenesia Gonadal 46, XX atendidos no Sistema Único de Saúde de Alagoas [PDF]

open access: yes
Introduction: Gonadal Dysgeneses (GD) are classified as Disorders of Sex Development (DSD) and are characterized by impaired development of the gonads. GD can be classified as Complete Gonadal Dysgenesis (CGD), Mixed Gonadal Dysgenesis (MGD), or Partial ...
Correia, Gabriela Maria de Andrade
core  

Disgenesia gonadal mixta por monosomía en mosaico: reporte de caso

open access: yes, 2010
El término Disgenesia Gonadal mixta (DGM) se emplea en casos de disgenesia testicular con un cariotipo mos45,X/46,XY. El manejo de estos pacientes incluye la asignación del sexo, gonadectomía, genitoplastia y lo relacionado con las características ...
Osorio, Gloria   +4 more
core  

45,X/46,XY gonadal dysgenesis, 46,XX/46,XY chimerism (and variants), and 46,XX testicular and ovotesticular DSD

open access: yes, 2019
45,X/46,XY gonadal dysgenesis occurs in around 1.5/10,000 conceptions. The clinical phenotype is highly variable; and features of Turner syndrome may be found to a variable extent in both males and females with this condition.
Cools, Martine, Martine Cools
core   +1 more source

Densidade mineral ossea em mulheres com amenorreia primaria por disgenesia gonadal [PDF]

open access: yes, 2018
Orientadores: Aloisio Jose Bedone, João Francisco Marques NetoDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências MédicasResumo: Durante o período puberal, a adequada produção hormonal correlaciona-se diretamente à obtenção ...
Pinto, Cristina Laguna Benetti, 1959-
core  

46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?

open access: yes, 2007
46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 21-hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to
Cora, Tulin   +3 more
core  

Search for mutations on FGF9 and FGFR2 genes in patients with 46,XY disorders of sexual development by gonadal abnormalities

open access: yes, 2012
Introdução: Várias evidências em estudos de animais knockout sugerem a efetiva participação dos genes Fgf9-Fgfr2 no processo de determinação testicular.
Machado, Aline Zamboni   +1 more
core   +1 more source

GÔNADAS DISGENÉTICAS; GONADOBLASTOMA, LAPAROSCOPIA, GONADECTOMIA [PDF]

open access: yes, 2022
Females with XY karyotype and streak gonads are classified as presenting XY gonadal dysgenesis. These patients are at higher risk of developing malignancy in their gonads; in such cases prophylactic surgical removal is indicated.
Sabino L. da Cunha-Filho, João   +7 more
core  

Amenorrea primaria secundaria a disgenesia gonadal pura 46XY (Síndrome de Swyer).: Reporte de un caso.

open access: yes, 1998
La disgenesia gonadal pura 46XY (síndrome de Swyer) es una entidad rara, caracterizada por la presencia de estrías gonadales indiferenciadas en una paciente de fenotipo femenino que posee genitales femeninos hipoplásicos.
Vinocour, Mary   +2 more
core  

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development [PDF]

open access: yes
Purpose 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
Ja Hye Kim   +14 more
core   +2 more sources

Home - About - Disclaimer - Privacy