Disorders of Sexual Development, 45, XO Gonadal Dysgenesis

2019 ◽  
pp. 1-3
Author(s):  
Manuel Nistal ◽  
Pilar González-Peramato
Keyword(s):  
Sexual Development ◽  
Gonadal Dysgenesis ◽  
Disorders Of Sexual Development

scholarly journals Histopathological spectrum of disorders of sexual development: a case series of seven cases

2020 ◽  
Vol 8 (6) ◽  
pp. 2303
Author(s):  
Saroj Ashok Bolde ◽  
Arva Ali Pirosha ◽  
Sushma N. Ramraje ◽  
Shubhangi V. Agale
Keyword(s):  
Sexual Development ◽  
Genital Tract ◽  
Gonadal Dysgenesis ◽  
Case Series ◽  
Androgen Insensitivity Syndrome ◽  
Disorders Of Sexual Development ◽  
Mrkh Syndrome ◽  
Primary Amenorrhoea ◽  
Derivatives Of ◽  
Rule Out

Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

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.

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