ESPE Abstracts

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, growth failure with or without growth hormone (GH) deficiency and hypothyroidism.

Objectives: We aimed to evaluate endocrine dysfunction in patients with CHARGE syndrome followed at Pediatric Endocrinology outpatient clinic in a tertiary pediatric hospital.

Methods: Clinical features and endocrine laboratory profile were assessed by retrospective chart review.

Results: In our cohort (n=6, four female and two male), median age at the time of the first Endocrinology visit was 4,1 years (min 1,2- max 11,7). Relevant clinical findings are shown on the table. Short stature was the most frequent endocrinological manifestation (n=4), with mean height of -3,59 standard deviation. None of the patients had thyroid dysfunction. One of the two male patients had bilateral cryptorchidism. Two female patients presented hypogonadotropic hypogonadism with pubertal delay, both having started puberty induction at the age of 14.

Conclusions: Late referral to Endocrinology clinic highlights the importance of raising awareness to endocrine dysfunction in CHARGE syndrome. According to the most recent follow-up protocol (Trider et al. 2017), Endocrinology consultation should begin in the neonatal period, allowing for early detection and intervention. Induction of puberty is a topic that must be increasingly addressed, given its importance in growth, emotional stability and bone health of these patients.