XX Male

doi:10.1007/978-1-4614-1037-9_250

Atlas of Genetic Diagnosis and Counseling 2012

DOI: 10.1007/978-1-4614-1037-9_250

|View full text |Cite

XX Male

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2023

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

A Case of de la Chapelle Syndrome

Thaker,

Parihar,

Dhande

et al. 2023

Cureus

View full text Add to dashboard Cite

A rare disorder of sex development (DSD) linked to a 46,XX karyotype is characterized by male external genitalia, which can range from typical to atypical, often accompanied by testosterone deficiency. A 3-year-old child who appeared phenotypically male was brought to the hospital by his parents due to concerns about ambiguous genitalia. A comprehensive series of pathological tests and radiological imaging studies were conducted to ascertain the underlying cause of his presentation. Karyotyping revealed a 46,XX genotype, while magnetic resonance imaging (MRI) results indicated the presence of both testes and a Müllerian remnant. Consequently, the diagnosis was established as the de la Chapelle syndrome. This case report aims to highlight various imaging findings associated with this syndrome.

show abstract

A Case of de la Chapelle Syndrome

Thaker,

Parihar,

Dhande

et al. 2023

Cureus

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

XX Male

Cited by 1 publication

References 33 publications

A Case of de la Chapelle Syndrome

A Case of de la Chapelle Syndrome

Contact Info

Product

Resources

About