Endocrine Abstracts

Constitutional delay is a common presentation to paediatric endocrine clinics. Most are boys who have been at the bottom of the normal range for height during childhood and then started to feel left behind as their peers develop in puberty. There is no agreed cut off age but most boys referred are 13–15 years old. Most boys with delay of puberty are healthy, although there is an association with chronic medical conditions (eg inflammatory bowel disease, juvenile rheumatoid arthritis, cystic fibrosis, etc). Distinguishing rare cases of hypogonadotrophic hypogonadism among the numerous referrals to paediatric endocrine clinics with pubertal delay is difficult. Baseline endocrine testing is unhelpful. GnRH tests can give information but rarely completely confirm the diagnosis. MRI scans or genetic testing might confirm a diagnosis but only for a proportion of those affected. It is not justified to intensively investigate every child with pubertal delay so most clinicians will do basic tests at presentation and then observe progress. Treatment to induce puberty can be of considerable psychological benefit. There is a limited range of sex steroid formulations which can be used in low doses, and published data are limited. Gonadotrophins are not often used as the main agent to induce puberty. There is discussion of whether induction of spermatogenesis at the same time as induction of pubertal development will help future fertility in individuals with hypogonadotrophic hypogonadism, but not much evidence to support this. Most individuals with constitutional delay will start to progress in endogenous puberty when treated, so if there is no sign of endogenous puberty (testicular enlargement) with treatment, hypogonadotrophic hypogonadism becomes a more likely diagnosis.