Coloboma, heart defect, atresia choanae, retarded growth and development, 
genital hypoplasia, ear anomalies (CHARGE) syndrome is a genetic syndrome in 
which hypogonadism is a frequent feature. A causative mutation within the 
chromodomain helicase DNA-binding protein-7 gene, which plays an important role 
in the embryonic development, is present in 2/3 of affected patients. We 
describe the clinical, hormonal and molecular characteristics of a young man 
from Ecuador who was diagnosed as having CHARGE syndrome at an adult age. The 
patient showed several phenotypic features of the syndrome, associated with a 
prepubertal state and cryptorchidism; hypogonadotrophic hypogonadism with 
undetectable testosterone levels not responsive to hCG testing and severe 
osteoporosis were ascertained. Molecular evaluation of the CHD7 gene showed the 
novel frameshift truncating heterozygous mutation p.Tyr1046Glyfs*23 in exon 12. 
Magnetic resonance imaging revealed mild hypoplasia of the pituitary gland and 
hypoplasia of the posterior cranial fossa. Parenteral testosterone therapy led 
to sexual development over time and, in combination with diphophonate therapy 
and calcium-vitamin D supplementation, significantly improved bone 
mineralisation. Early proper hormonal treatment of hypogonadism in patients with 
complex genetic syndromes is important to achieve normal sexual maturation, 
improve quality of life and avoid significant comorbidities, such as 
osteoporosis.