While adrenal disease in children is quite rare (Simpson et al., 2018), healthcare professionals today working in paediatric endocrinology departments are experts in managing the care of children with adrenal disease. Congenital adrenal hyperplasia (CAH) is the most common; primary adrenal insufficiency and Cushing’s syndrome are also rare but important disorders.
It is useful for families to learn more detail on what is involved in CAH from this helpful video from the patient support group “Living with CAH.”
The diagnosis of CAH may seem incredibly daunting for families, with all the information they are given when their child is diagnosed. Boys tend to present in the emergency room when they are around 2 weeks of age with dehydration and vomiting, whereas girls are usually diagnosed shortly after birth, as their genitalia may look more like a boy’s. This can be frightening for families, and this leaflet on differences of sex development is a comforting, useful resource, giving tips to families on how best to talk to friends, family and hospital professionals, and explanations of words that they may never have heard before.
Families should have a paediatric endocrine nurse specialist (PENS) to help with communication and to coordinate care. Such a person can act as a resource and a liaison between various members of the multidisciplinary team that they may encounter.
It is very important that the prescribed medications are taken correctly and on time, as children may have a life-threatening adrenal crisis if they do not have enough of the hormone cortisol in their system (Miller et al., 2020). Babies will have to take extra liquid salt supplements every day until they are fully weaned (Padidela & Hindmarsh, 2010), and it is important that parents know the correct pharmacy to obtain this from. Fludrocortisone tablets are given to treat reduced levels of aldosterone, and hydrocortisone replacement is also needed for basic cortisol replacement, given at different times throughout the day. The tablets can be crushed and mixed with water to obtain the correct dose, which can be quite small in children (Watson et al., 2018), or there is a paediatric-specific formulation, which comes as capsules that can be broken open and the small grains administered (Porter, Withe, & Ross, 2018).When children are unwell, hydrocortisone doses will need to be doubled or trebled until clinical improvement occurs. In an emergency, an injection of hydrocortisone needs to be administered, and the PENS can help train the family for this eventuality. A useful app (Tollerfield, Atterbury, Langham, Morris, & Farrell, 2017) formulated by the team at Great Ormond Street Hospital also demonstrates the injection (see image), and the team have other useful information at the following links:
Education in the primary disorder will underpin the understanding of families to have a full stock of the medication at home. The PENS can help liaise with nurseries and schools and agree on a management plan regarding medication and potential emergency scenarios. A steroid therapy card should always be with the child and the PENS can formulate hand-held emergency management plans to be kept at school, with both parents, at grandparents’ houses etc. Medic alert bracelets are also advised to be worn at all times.Travel advice can also be given by the PENS, focusing on when to take the medication across different time zones, advice for travelling with an emergency kit on an aeroplane, emergency plans in relevant languages, and possibly the contact details of the local paediatric endocrine team (Moloney, Murphy, & Collin, 2015).It is vital that families and healthcare professionals from a multidisciplinary team work together: the diagnosis can be alarming, but support from other families and support groups can be invaluable (Moloney et al., 2015), with education being the key to optimum and safe management (Bowden & Henry, 2018).