MANAGEMENT OF A CHILD WITH A DIFFERENCE IN SEX DEVELOPMENT CAUSED BY A NR5A1 PATHOGENIC VARIANT
Introduction: Differences of Sex Development (DSD) occur in approximately 1/5000 live births. One of the recently found genetic causes for 46, xY DSD is NR5A1 gene variants, responsible for a broad phenotypic spectrum. Case Report: We present a case of a full-term newborn with ambiguous genitalia: o...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Book |
| Published: |
The Society for Children with Metabolic Disorders,
2023-05-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|