Endocrine Abstracts

CHARGE syndrome describes a pattern of birth defects which occurs in about one in every 9–10 000 births worldwide. It consists of a combination of congenital malformations: coloboma, heart defect, choanal atresia, delayed development, genital hypoplasia, ear abnormalities, and/or hearing loss defect. Casual mutations involve the chromodomain helicase DNA-binding protein-7 (CHD7). Gene locus 8q12.1, 7q21.1. The phenotype can also be caused by mutation in the semaphorin-3E gene (SEMA3E).

Most of the information in the literature is concentrated in the pediatric life and so far little is known about the natural history of CHARGE syndrome after transition and the clinical profile in adults.

Aim: We retrospectively audited adult patients with Charge Syndrome attending adult endocrine clinics at UCLH.

Subjects and methods: Clinical notes were reviewed in 8 subjects, 4 males and 4 females. Age ranged between 20–28 years.

Results: Height ranged between 1 and 25th Centile. All patients had hypogonadotrophic hypogonadism and required sex steroid replacement. None had attempted fertility. Two were growth hormone deficient (GHD) and 3 received GH. All subjects had low BMD, 5/8 (62.5%) had osteopaenia and 3/8 (37.5%) had osteoporosis. Vit D was measured in 6 subjects and was low in 1.

Conclusion: Hypogonadotrophic hypogonadism and low BMD were universal. Height outcome was variable either with or without GH treatment. Low BMD and short stature may require more intensive management in pediatrics than was received by this group.