Endocrine Abstracts

Introduction: CHARGE syndrome is a multi-organ disorder; 67% have mutations in the chromodomain gene CHD 7. Endocrine abnormalities are increasingly recognized and we report our experience in a tertiary endocrine unit.

Methods/Study design: Children with CHARGE syndrome attending endocrine clinic were identified and data collected retrospectively from medical notes.

Results: 31 patients (13 females) were identified. Mean age was 10.5 years (range 0.67–21 years). Whilst all children presented neonatally with congenital malformations and dysmorphic features, CHARGE diagnosis based on clinical criteria was made up to 4 years of age. CHD7 mutations were identified in 22 (71%). Mean age of endocrine referral was 10 years (range 0.1–17 years). Endocrine causes for referral were: three with short stature only, seven with short stature and hypogonadotrophic hypogonadism (HH: delayed puberty, hypoplastic genitalia and/or undescended testis), 12 with HH and one with osteopenia. Mean height SDS was – 2.2 (range −0.43 to −5.8). GH provocation testing (n=5) showed a mean GH peak of 29.8 mU/l (range 21.9–45). Two patients received GH therapy. 19 patients (16/17 males, 6/13 females) had HH clinically; 17 (55%) were prepubertal. Of 14 (eight female) children in the pubertal age range, spontaneous puberty occurred in only three (all female). Puberty induction occurred in the remainder at a mean age of 14.3 years (range 12–17.5 years). Three patients had low bone mineral density on DEXA scan (BMAD SDS – 2.2 to −2.4). In one child low bone mineral density was associated with fractures and required treatment with bisphosphonates.

Conclusion: HH is the predominant endocrine problem in children with CHARGE syndrome, being more common in boys than girls (94 vs 46%), who consequently are more likely to require pubertal induction. These children may be at an increased risk of osteoporosis. Other endocrinopathies appear to be rare.