نتایج جستجو برای: 46 xy female

تعداد نتایج: 351927  

2011
Ximena E. Caeiro Franco R. Mir Laura M. Vivas Hugo F. Carrer María J. Cambiasso

To investigate whether sex chromosome complement modulates bradycardic baroreflex response and contributes to the angiotensin II–bradycardic baroreflex sex differences, we used the four core genotype mouse model in which the effect of gonadal sex and sex chromosome complement is dissociated, allowing comparisons of sexually dimorphic traits among XX and XY females, as well as in XX and XY males...

Journal: :Archives of disease in childhood 1970
C J Dewhurst

It has been known for some years that apparently female patients are sometimes found to have an XY sex chromosome complement. Morris (1953) focused attention upon the syndrome of testicular feminization in which, despite the presence of XY sex chromosomes and testes, the phenotype and secondary sexual development are female. Harnden and Stewart (1959) applied the term pure gonadal dysgenesis to...

Journal: :International braz j urol : official journal of the Brazilian Society of Urology 2002
Barry A Kogan

OBJECTIVES The objective of this study was to identify and study adults who have a 46,XY karyotype and presented as infants or children with variable degrees of undermasculinization of their genitalia (female genitalia, ambiguous genitalia, or micropenis). Participants' knowledge of their condition, satisfaction with their knowledge, and desire for additional education about their intersex cond...

Journal: :International Journal of Cardiovascular Sciences 2021

Swyer syndrome is one of the disorders sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis female phenotype. Cardiac autonomic modulation was assessed through HRV while at rest. This research analyzed linear and nonlinear indexes. s...

Journal: :Case Reports in Obstetrics and Gynecology 2019

Journal: :American Journal of Medical Genetics 2002

2015
Özge Yüce Esra Döğer Nurullah Çelik Hamdi Cihan Emeksiz Mahmut Orhun Çamurdan Aysun Bideci Peyami Cinaz

Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assess...

2010
Pascal Philibert Elodie Leprieur Delphine Zenaty Elisabeth Thibaud Michel Polak Anne-Marie Frances James Lespinasse Isabelle Raingeard Nadège Servant Françoise Audran Françoise Paris Charles Sultan

BACKGROUND Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence. METHODS We directly sequ...

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