Predictive Value of Anatomical Findings and Karyotype Analysis in the Diagnosis of Patients with Disorders of Sexual Development

2007 ◽  
Vol 1 (4) ◽  
pp. 222-229 ◽  
Author(s):  
A.J. Arcari ◽  
I. Bergadá ◽  
R.A. Rey ◽  
S. Gottlieb
Keyword(s):  
Sexual Development ◽  
Predictive Value ◽  
Karyotype Analysis ◽  
Disorders Of Sexual Development

Disorders of Sexual Development in Newborns

Neonatology ◽  
2017 ◽  
pp. 1-25
Author(s):  
Antonio Balsamo ◽  
Paolo Ghirri ◽  
Silvano Bertelloni ◽  
Rosa T. Scaramuzzo ◽  
Franco D’Alberton ◽  
...  
Keyword(s):  
Sexual Development ◽  
Disorders Of Sexual Development

Ethical Aspects in the Care of Intersex Patients

2015 ◽  
Author(s):  
Timothy F. Murphy
Keyword(s):  
Sexual Development ◽  
Well Being ◽  
Psychological Effects ◽  
Adult Patients ◽  
Ethical Aspects ◽  
Disorders Of Sexual Development ◽  
Intersex Condition ◽  
Body Modifications ◽  
Health And Well Being

People with intersex conditions have male-typical and female-typical traits, to varying degrees in genetics and anatomy. Because of these variations, people with intersex conditions or disorders of sexual development can face difficulties related to their identities and relationships. As a matter of ethics, clinicians should exhibit humane behavior toward patients of all ages as they explore the meaning of their intersex condition for their health and well-being. Clinicians can also help families understand the meaning of that condition for their children and themselves. Clinicians will also have responsibilities toward child, adolescent, and adult patients bearing on the psychological effects of body modifications taken to normalize their sexual appearance. In addition, clinicians will have the responsibility to address the effects of body modifications hoped for by the patient. Observance of confidentiality is key in relationships with intersex patients.

Imaging Findings of Septooptic Dysplasia and Joubert's Syndrome in A Patient with Mixed Gonadal Dysgenesis: A New Coexistence?

2020 ◽  
Author(s):  
Merter Keçeli
Keyword(s):  
Gonadal Dysgenesis ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Ambiguous Genitalia ◽  
Total Testosterone ◽  
Resonance Imaging ◽  
Disorders Of Sexual Development ◽  
Laboratory Findings ◽  
Mixed Gonadal Dysgenesis ◽  
Motor Retardation

AbstractAmbiguous genitalia is a common feature in most disorders of sexual development. These disorders can be evaluated within three groups: sex chromosome disorders, 46,XY disorders, and 46,XX disorders. Except for Turner's syndrome, these anomalies are not related to neurological developmental anomalies. A 6-month-old patient presenting with ambiguous genitalia had developmental and motor retardation with nystagmus. In karyotype analysis, 45,X/46,XY sequences were found, compatible with mixed gonadal dysgenesis (GD). Laboratory findings were normal except for low serum total testosterone level. The uterus and left adnexal structures were seen in imaging. There were no gonads in the labial/scrotal regions. Septooptic dysplasia (SOD) and Joubert's syndrome (JS) were detected in cranial magnetic resonance imaging. This presentation reports rare association of SOD and JS in a child with mixed GD.

Classification and Presentation of Disorders of Sexual Development (DSD)

2019 ◽  
pp. 476-485
Author(s):  
Kanthi Bangalore Krishna ◽  
Selma F. Witchel ◽  
Christopher Houk ◽  
Peter Lee
Keyword(s):  
Sexual Development ◽  
Disorders Of Sexual Development

Disorders of sexual development

2021 ◽  
pp. 581-638
Author(s):  
William E. Winter ◽  
Paul Hiers ◽  
Dina N. Greene
Keyword(s):  
Sexual Development ◽  
Disorders Of Sexual Development
Sign in / Sign up

Export Citation Format

Share Document