Table 1

- Comparison of our cases’ clinical features with clinically diagnosed cases reported in literature.

Clinical featuresCurrent reportAlasiri et al,3Louro et al,4
No secondary sexual characteristics+++
Primary amenorrhea+++
Diabetes mellitus+++
Sensorineural hearing loss ++
Extrapyramidal symptoms+ +
Intellectual disability+++
Triangular face+ +
Breast hypoplasia++ 
Hypergonadotropic hypogonadism+++
Pituitary hypoplasia+  
White matter disease+ +
Urogenital anomalies+--
Bilateral keratoconus+ (in one of 3 patients)-