Endocrine Abstracts

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.

Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical records. CHD7 was sequenced in patients where DNA was available.

Results: Of the 31 patients identified, medical records were available for 28 patients (11 females and 17 males). The mean age of the patients studied was 14.03 years (5.99–26.25 years). Eighteen were diagnosed with CHARGE syndrome in the neonatal period based on clinical criteria. A mutation in CHD7 was identified in 9/11 patients tested.

The mean age at referral to endocrinology was 3.6 years (1 month–10.89 years), with short stature being the predominant concern (24/28 patients). Mean height SDS at referral was – 2.4 (−1.2 to −5.63). The mean GH peak on GH provocation testing (performed in 21 patients) was 10.2 μg/l (range 4.3–32 μg/l).

Eleven patients were treated with GH. Mean duration of treatment was 9.4 years (range 1–15 years). 16/28 patients (11 males and 5 females) were diagnosed with hypogonadotrophic hypogonadism (HH). Of the 16 post pubertal patients, spontaneous puberty was achieved in two males and three females at a mean age of 11.25 years while seven males and three females required pubertal induction. In two patients hypogonadotrophic hypogonadism was associated with reduced sensation of smell.

Conclusion: Children with CHARGE syndrome have a multitude of endocrine issues amidst other medical problems, and HH is common in this category of patients. Awareness of these issues is important to ensure timely identification and management with prevention of additional morbidity.