Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome.
OBJECTIVE
To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome.


METHODS
Non-interventional case report.


METHODS
A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogenetic study, molecular testing for hidden Y-chromosome material, and a full ophthalmological assessment including slit lamp examination were also performed.


RESULTS
Physical examination revealed typical features of Turner syndrome: short stature, webbing of the neck with low posterior hairline, widely spaced nipples and lack of development of secondary sexual characteristics. Abdominal and pelvic ultrasound showed a horse-shoe kidney with double ureter, a hypoplastic uterus and bilateral streak ovaries. Mitral regurgitation was diagnosed on echocardiography. Chromosomal analysis revealed a 45,X Turner syndrome karyotype while the molecular study failed to demonstrate any occult Y chromosome derivative. The ophthalmological assessment revealed sclerocornea and Axenfeld anomaly with synechia.


CONCLUSIONS
Few reported cases in the literature describe the coexistence of Axenfeld-Rieger spectrum and Turner syndrome. Our study adds to the evidence that ocular problems occur frequently in Turner syndrome. A routine ophthalmologic examination is recommended early in Turner syndrome to diagnose and treat confirmed abnormalities. Conversely, general examination and chromosomal analysis should be indicated in patients presenting with anterior chamber dysgenesis.
Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. drebtesamabdalla@yahoo.com
Ebtesam Mohamed
EM
Abdalla
Karim Mahmoud
KM
Nabil
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000869:Anterior Eye Segment / Q000002:abnormalities; D041321:Chromosomes, Human, X / Q000235:genetics*; D003241:Consanguinity; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D005260:Female; D006801:Humans; D059785:Karyotype; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*