CONTEXT: CHARGE syndrome is a complex of congenital malformations and CHD7 has been reported as a major gene involved in the etiology.

OBJECTIVE: We performed endocrine and radiological studies to determine if endocrinological disorders such as hypogonadotropic hypogonadism, growth hormone deficiency or hypothyroidism are involved, and also if olfactory bulb hypoplasia and semi-circular canals aplasia are major signs, in patients with molecularly confirmed CHARGE syndrome

DESIGN: Clinical features, endocrinological assessments and radiological abnormalities in 8 children (5 boys and 3 girls) whose molecular analyses were available were evaluated among 15 children clinically diagnosed with CHARGE syndrome at our institute.

RESULTS: We identified heterozygous CHD7 mutations in all patients screened for mutations. Four boys had micropenis and/or cryptorchidism. One was diagnosed with GH deficiency and the other was diagnosed with hypothyroidism. CT findings revealed aplasia of semi-circular canals. MRI studies of the olfactory bulb region revealed abnormal olfactory sulci and bulb development in all children.

CONCLUSION: We suggest that hypogonadism, GH deficiency and hypothyroidism could be possible endocrinological defects in patients with CHD7 mutations, and. that olfactory bulb hypoplasia as well as semi-circular canal aplasia should be considered as a major sign for CHARGE syndrome and recommend CT scan of the temporal bone and MRI study of the olfactory bulb region.