Endocrine Abstracts

Young people in their late teenage years may present to either paediatric or adult endocrine clinics with abnormal growth (usually as short stature and/or recognition of slowing growth) and delayed or absent puberty. Anxieties about growth potential may be very significant, and the lack of puberty may blight social interactions and markedly reduce self-esteem.

Although constitutional delay in growth and puberty is the most common diagnosis for this type of presentation, there are a number of other significant aetiologies which must be considered. These include – chromosome disorders, e.g. 47XXY, hitherto undiagnosed genetic disorders, e.g. hypogonadotrophic hypogonadism including Kallmann’s syndrome, and acquired lesions in the hypothalamic–pituitary axis, such as craniopharyngioma.

It is therefore essential that there is close attention paid to family history of related disorders, social and educational history, co-morbidities (e.g. sense of smell), symptoms and signs of endocrinopathy (including diabetes insipidus) and CNS signs.

Investigations may be minimal (e.g. TFTs, bone age) if there is a clear family history of delayed puberty and clinical examination reveals that puberty has commenced. However investigations may need to be extensive including assessment of pituitary function (both basal and dynamic testing) and brain imaging.

Treatment should be directed at the underlying disorder. There are many regimens for pubertal induction, but starting doses of sex steroids should be tailored to the degree of pubertal development already achieved and the need to promote growth – low doses for those with absent or minimal pubertal signs (e.g. testosterone injections 50 mg monthly or ethinyloestradiol orally 5 μg daily), and higher doses for those already established into puberty or with pubertal arrest.

This clinical scenario is an excellent example of where both paediatric and adult endocrinologists need the expertise to manage these young people, and seeing them within a joint clinic is a good strategy.