Skewed X Inactivation and Adrenal Hypoplasia Congenita in a Female
Author Information
Author(s): Shaikh M G, Boyes L, Kingston H, Collins R, Besley G T N, Padmakumar B, Ismayl O, Hughes I, Hall C M, Hellerud C, Achermann J C, Clayton P E
Primary Institution: Royal Manchester Children’s Hospital
Hypothesis
Is skewed X inactivation associated with adrenal hypoplasia congenita in females?
Conclusion
The study confirms that skewed X inactivation is associated with adrenal hypoplasia congenita in a female patient.
Supporting Evidence
- The patient had a de novo deletion at Xp21.2 affecting the DAX1 gene.
- Skewed X inactivation was confirmed using the androgen receptor as a marker.
- The patient presented with salt losing adrenal insufficiency and developmental delay.
- Variability in X inactivation between tissues may explain the severity of symptoms.
Takeaway
This study shows that a girl with adrenal problems had a special genetic change that affected her X chromosomes, which is usually seen in boys.
Methodology
The study involved genetic testing, hormone assays, and analysis of X inactivation patterns in different tissues.
Limitations
The study is based on a single case, which may limit the generalizability of the findings.
Participant Demographics
A female child of unrelated white European parents.
Digital Object Identifier (DOI)
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