Hypopituitarism is a rare, complex and heterogeneous endocrine disorder associated with significant morbidity and mortality.2,3 Clinical manifestations may present at any time of life, and range from isolated pituitary deficiency to a complete loss of all pituitary hormones with or without associated extra-pituitary abnormalities. Transition is defined as the time between the completion of puberty and the achievement of peak bone mass.4 It is a time when physical, cognitive and emotional changes occur. During this challenging period, young people begin to navigate adult relationships, employment, university education, independent living and their social life. In patients with chronic conditions, the term transition refers to the purposeful planned movement of adolescents and young adults from child- to adult-oriented healthcare systems.5 The goal is to provide care that is uninterrupted, co-ordinated, developmentally appropriate, psychosocially sound, and comprehensive
This is not easy to achieve. Some of the barriers to successful transition are summarised in the Table. Factors in the successful transition of patients with hypopituitarism are considered below. Timing Meeting the recommended target for the best timing of transition (starting at 14 years, according to the NICE guidelines) might not always be possible, due to the lack of sufficient expertise among adult services: patients with some rare conditions would not even have survived to adulthood a few decades ago. This is often compounded by a ‘resistance to change’ amongst both the family/patient and the healthcare teams that they know well. Retesting Transition is an opportune time for re-evaluation of any endocrinopathies, considering the diagnostic difficulties of specific hormonal deficiencies in younger children, but also the possible recovery of anterior pituitary function as well as the evolution of new deficits. Current guidelines suggest that retesting of growth hormone secretion should be performed in all patients, except those with three or more pituitary hormone deficiencies and low-serum insulin-like growth factor-1 concentrations (below –2.0 SDS), those with genetic defects affecting the hypothalamo-pituitary axis, and those with hypothalamo-pituitary structural brain defects.6 Education on adrenal crisis and desmopressin treatment Education of the young person on increasing oral glucocorticoids during intercurrent illness, how/when to administer emergency intramuscular hydrocortisone and how to correct hypoglycaemia is essential. If diabetes insipidus is present, the young person should also understand the importance of not stopping their desmopressin, and the importance of carrying both hydrocortisone and desmopressin with them at all times, as well as adopting appropriate strategies if they become unwell, particularly if they have co-existing adrenocorticotrophin deficiency. Transition may involve revisiting optimal steroid preparations for an individual, e.g. the use of long-acting glucocorticoid therapy. Addressing lifestyle changes such as going out, staying away from home and staying safe if using alcohol and drugs may save lives. Recreational drugs such as MDMA (3,4-methylenedioxymethamphetamine or ‘ecstasy’) may lead to polydipsia, which could be extremely dangerous in patients treated with desmopressin. Alcohol can increase urine output, and young people should be told they will not necessarily need extra desmopressin if they drink a large amount of alcohol. Puberty and fertility Delayed puberty in adolescents can be associated with significant anxiety about body image, and decreased selfesteem, with social isolation. In these circumstances, sex steroid therapy can be beneficial and should be used in a timely manner. In girls with learning disabilities, an early onset of menstrual periods might be difficult to manage for the family/carers. Therapeutic options are available for reduction or suppression of menstruation, at the same time optimising accrual of bone mass.
Young adults should have discussions about sexual health and be advised to use contraception if they are sexually active, even if they are diagnosed with hypogonadism. Fertility issues are often only discussed after transition to adult services. Patients should have access to specialist fertility services if they request this. Learning disability and lack of capacity Associated abnormalities such as visual impairment, obesity, autism and learning disabilities often simultaneously present in children with septo-optic dysplasia and in those with suprasellar brain tumours, and may add to difficulties in management. Provision for these young adults is frequently woefully inadequate. The lack of capacity to consent to medical treatment often poses ethical challenges. Best interest meetings frequently take place, to ensure that the best treatment possible is achieved, while respecting personal choices and beliefs. Hypothalamic obesity Severe hypothalamic obesity is a common finding in acquired and congenital causes of hypopituitarism. This is caused by a combination of hyperphagia and low metabolic rate. Lack of exercise might also contribute, in patients with learning disabilities and/or visual impairment.
No medical treatment is currently available for hypothalamic dysfunction. Conclusions Adolescents with hypopituitarism face physical and emotional changes, as well as the prospect of a chronic condition in which lifelong hormonal treatment may be required. Expert care across the life span is required, but there is no universal consensus on how transition should be provided. It is important to give young people the knowledge and confidence to manage their condition and support them through the process. A multidisciplinary professional team should work in partnership with patients and their families to ensure a successful and smooth transition. Manuela Cerbone and Mehul T Dattani London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Children’s Hospital and University College London Hospitals, and Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health, UK
