Table 1.

Age-related clinical features and laboratory findings of our patient.

Age	Clinical features	Laboratory findings
Neonatal life	(i) Birth weight: 10th centile (ii) Height: 50th centile (iii) Genital abnormalities: (bilateral cryptorchidism, small hypoplastic scrotum, and extreme microphallus) (iv) Bilateral testicular dysgenesis	(i) Low testosterone levels (ii) Male karyotype (46,XY)
6 months	(i) Failure to thrive (weight < 3rd centile, height: 25th centile)	(i) Increased liver enzymes (ii) Fatty infiltration of the liver (abdominal ultrasound)
12 months	(i) Failure to thrive (weight < 3rd centile, height < 3rd centile)	(i) Remarkably elevated liver enzymes (ii) Steatohepatitis in liver biopsy (iii) Microcytic anemia (without iron deficiency) (iv) Normal organic acid urinary analysis (including 3-methylglutaconic acid)
18 months	(i) Failure to thrive (weight < 3rd centile, height < 3rd centile)	(i) Brain MRI (small areas of increased signal symmetrically bilaterally in the posterior part of the pons)
2 years	(i) Failure to thrive (weight < 3rd centile, height < 3rd centile)	(i) Increased 25(OH)Vit D levels, low 1.25 (OH)2Vit D levels
3-4 years	(i) Failure to thrive (weight < 3rd centile, height < 3rd centile) (ii) Mild delay in speech development	(i) Hypercalciuria
5 years	(i) Delay in conquering psychomotor milestones (ii) Mild ataxia	(i) Dilated cardiomyopathy with preserved ejection fraction (ii) Prolonged QT interval (iii) DEXA: osteopenia
7.5 years (after starting a special diet)	(i) Weight: 3nd−15th centile, height: 3rd centile	(i) Normal levels of 25(OH)Vit D and 1.25 (OH)2Vit D (ii) Normal hemoglobin levels