Diagnosis is based on physical examination, blood analysis, bone age measurements, ultrasonography and radiological imaging – MRI or CT scanning.

This is dependent on the cause and may necessitate surgery, chemotherapy or irritation if a tumour is diagnosed. For the female with idiopathic precocious puberty treatment will depend on the age of diagnosis. Monitoring of growth patterns is essential. Treatment is usually administration of gonadotrophin releasing hormone subcutaneously, intramuscularly or intranasally for those cases that are gonadotrophin dependent.

The aim of nursing care should focus on the education of the child and parent about the condition, medication administration and to provide emotional support for the family. There may be psychological and behavioural difficulties associated with the early progression into puberty. It must be emphasised to the family that the child is achieving their other developmental milestones – cognition, emotional development and social development – according to their chronological age even if their physical development and appearance is advanced.

Care and management will be based on the assessment of individual needs of the child and in collaboration with the child and family (Table 34.3). The deficiency is identified by serum analysis of growth hormones. Brain imaging is also required to identify underlying pathology. A detailed history of the child’s physical status and social situation needs to be ascertained.

In children with growth hormone insufficiency, exogenous (biosynthetic) growth hormone (somatropin) is administered by subcutaneous injection; the dose is increased during the period of adolescence. It is continued until the child attains their final height (Rudolf & Levene 2006). The recommended dose varies according to the child’s condition and is self-administered at home 6–7 times a week. Biosynthetic human growth hormone has been licensed for use in the UK for long-term treatment of children who have growth failure due to inadequate secretion of normal endogenous growth hormone (NICE 2002). A variety of growth hormone preparations and devices are available, knowledge of which is important if the nurse is to help the child and family choose the most suitable product and device. Although treatment enables many children to reach their adult height potential, this may mean many years of treatment for the child.

Establishing and maintaining optimum therapy both at the outset and over what may be a long period of time may be extremely challenging for many families (Nairn & Moore 2002). The initial and ongoing education of the child and family and the monitoring and maintenance of long-term compliance to achieve the best possible outcomes are important aspects within the role of the children’s nurse. In the presence of secondary growth hormone deficiencies the underlying lesion needs to be treated and prognosis is related to the underlying lesion.

Side effects of growth hormone therapy are rare but can include headache, visual problems, nausea and vomiting, fluid retention (peripheral oedema), arthralgia, myalgia, paraesthesia, antibody formation, hypothyroidism and reactions at injection site. Particular attention should be paid to treating children with risk factors associated with diabetes mellitus and slipped capital epiphyses.

Storage and preparation of medication, as well as choosing and alternating the injection site are important aspects of the education process. Timing of administration of growth hormone may be dependent on family routines. The evening is usually the recommended time as this mimics the pattern of normal production of growth hormone. (Hockenberry et al 2003). Compliance to treatment may be enhanced by enabling the child to take control over administration of growth hormone, which may be achieved by the use of the pen injector. The best results are seen in those that are treated early before psychological effects occur.

Raising awareness of the guidance on the use of human growth hormone in children with growth failure (NICE 2002; website: http://www.nhsdirect.nhs.uk) and encouraging parents to discuss this guidance with their doctor will provide further encouragement to comply with treatment. The Human Growth Foundation is a national organisation of parents who provide education and guidance on the physical, psychological and social development of children with growth problems. This resource may be beneficial in providing parents and children with additional support and advice. Good nutrition and adequate rest is vital when promoting growth. A well-balanced diet with appropriate calorie and protein intake needs to be encouraged.

Children’s nurses have a significant role in the routine monitoring of growth and the assessment of growth disorders. The development of good history-taking skills and an accurate, repeatable measurement are central to the success of growth assessment and evaluation. Measuring height is subject to error as a result of poor technique, variations between instruments and observers and diurnal variation (Hall 2000). The child should be measured by the same observer using the same measuring instrument if possible to maintain accuracy and consistency. Parental height should also be measured with the mid parental centile and target height plotted on the percentile chart (Drake & Kelnar 2006).

During therapy, the child’s growth needs to be monitored against expected growth on standard growth charts to assess ongoing response to treatment (Table 34.4). Explain to the parents that developmental expectations are the same for a child with growth hormone deficiencies as they are for a child who is developing normally. Expected growth may be based on parental height. It is recommended that treatment should be discontinued if the child’s growth velocity is less than 50% from baseline in the first year of therapy, i.e. if extra height gain is not at least half the height gain in the year before treatment began. Persistent problems with adherence to treatment should also be taken into account as part of the re-evaluation process (NICE 2002).

Recognition of the complexity of problems experienced by the child and family in relation to growth deficiency and/or short stature is necessary if physical and psychosocial dilemmas are to be overcome. Children who are small for their age may have problems with friends, teachers and parents, who tend to treat them as though they were younger and have reduced expectations of them. In turn, children may not act their age because it is not expected from them and thus experience problems with self-esteem and ability to interact appropriately with others. The child or young person should be encouraged to dress age appropriate rather than size and treated in an age-appropriate manner. Those involved in the care of these children should be aware of the importance of emphasising abilities and strengths rather than physical size.

Routine neonatal biochemical screening, blood spot test, must be performed on all infants either prior to discharge from hospital or in the community. This will identify most infants that are affected by this disorder.

In children under the age of 2 the symptoms may not be as clear as those associated with hypothyroidism therefore nursing assessment and ongoing monitoring of the neonate with presenting problems is vital to ensure early diagnosis of the condition. Serial measurement of weight, length and head circumference is an important aspect of assessment. Presenting symptoms depend on extent of dysfunction and age at onset. However, if undetected and left untreated in early childhood, permanent defects can arise, for example, mental retardation, deafness, deceleration in growth and other nervous system disorders. At birth there may be difficulty in identifying hypothyroidism. Hypothermia, delay in passing meconium and neonatal jaundice may be significant signs and require to be investigated immediately.

Clinical manifestations of hypothyroidism may not be evident until after 4 months of age. Signs and symptoms may include:

Often the baby is seen as being a ‘good’ baby, as the baby is often quiet. Skeletal growth may be decelerated due to impaired synthesis of protein, poor absorption of nutrients and lack of bone mineralisation. Enlargement of the thyroid gland, known as goitre, may be evident, particularly in older children. Puberty may be delayed and obesity is often present. If the condition remains undiagnosed and untreated, the child will be dwarfed with short limbs (cretinism) as well as presenting with delayed intellectual development.

Once diagnosis is confirmed, treatment is replacement therapy, which is prescribed according to the child’s hormonal levels. Treatment is required on a life-long basis. Regular estimates of hormone levels are essential to prevent development of hyperthyroidism. In addition, regular monitoring of growth is necessary throughout childhood. Assessment of cognitive development should also be undertaken. Parental education (and the child depending on their age) is essential as they need to demonstrate an understanding of the disorder and treatment required.

Scenario

June, a 12-year-old who presented with a history of weight loss, anxiety, disturbance in sleep and mood changes, was diagnosed as having Graves’ disease:

• When undertaking June’s nursing assessment, what specific information would you be required to obtain?

• What specific requirements would need to be considered when planning June’s care?

A discussion of this scenario appears at the end of the chapter.

PowerPoint

Access the companion PowerPoint presentation and review regulation of adrenal and renal function before proceeding with the next section of this chapter on disorders of adrenal function.

Hyperthyroidism is four times more common in girls than boys and most frequently presents in childhood between ages of 12 and 14 years. The condition usually presents with a history in deterioration in school performance.

The other clinical features of hypothyroidism will vary according to the amount and length of hypersecretion. The onset is subtle thus diagnosis may not be reached for a length of time. Weight loss, diarrhoea, rapid growth in height, tachycardia, tremors, increase in appetite, anxiety, learning difficulties/behaviour problems and goitre may be present. Eye signs are uncommon in children but exophthalmos may be evident (Lissaeur & Clayden 2007).

Diagnosis is achieved by laboratory analysis of thyroxine and tri-iodthyronine levels. A thyroid scan will also be performed. Antithyroid antibodies may also be identified in laboratory analysis.

The aim of treatment is to inhibit excessive secretion of the thyroid hormones. First-line treatment is oral medication and this is generally for a 2-year period. Adjunct therapy may also be required, e.g. beta-blockers. Radio-iodine treatment may follow oral medication. Surgery may also be considered if other treatment modalities are unsuccessful.

The aim of nursing care of the child with hyperthyroidism should focus on the education of the child and their parents. They need to be aware of the need to promote rest, the importance of compliance with treatment to avoid relapse and to provide emotional support. Pre- and postoperative care for the child undergoing subtotal or total thyroidectomy is very specific but the general principles of pre- and postoperative care still apply.

Due to the block in the adrenal production of corticosteroids a build up of androgenic precursors occur and this may lead to ambiguous genitalia in the newborn baby. This is rare. In the female with potentially normal ovaries and uterus, virilisation occurs and sexual development is therefore along heterosexual lines. The abnormality of the external genitalia may vary from mild enlargement of the clitoris to complete fusion of the labioscrotal folds, forming a scrotum, a penile urethra, a penile shaft, and enlargement of the clitoris to form a normal-sized gland.

Signs of adrenal insufficiency (salt loss) may be present during the first days of life. This is an acute presentation with hyponatraemia, hyperkalaemia, hypoglycaemia, dehydration, hypotension and circulatory collapse. In the older child, presentation is usually when the enzyme defect is milder, salt loss may not occur – this accounts for approximately 25% of cases (Ball & Bindler 2006). If untreated, growth rate and skeletal maturation are accelerated. Pubic hair appears early, acne may be excessive and voice may deepen. Excessive pigmentation may develop as a result of melanocyte stimulation by excessive production of adrenocorticotrophic hormone (Kappy et al 2003).

In males, sexual development proceeds normally. Male infants may appear normal at birth but present with salt-losing crisis in the first 2–4 weeks. The infant may present with vomiting, poor weight gain, poor feeding and electrolyte imbalance. The older male child who was not losing sodium may present with rapid growth and precocious sexual development.

Hormonal studies are essential for accurate diagnosis. Adrenal ultrasonography, CT scanning, and MRI may define pelvic anatomy or enlarged adrenals or indicate the presence of an adrenal tumour. Pelvic ultrasonography may help in delineating the internal anatomy of a newborn with ambiguous genitalia.

Initially, the recognition of ambiguous genitalia in the newborn requires to be attended to immediately in relation to informing the parents and commencing investigations to confirm sexual identity. Early diagnosis and treatment is crucial. Aims of treatment consist of normalising growth velocity and skeletal maturation using the smallest dose of glucocorticoids that will suppress adrenal function. Mineralocorticoid replacement helps to sustain normal electrolyte homeostasis, although excessive use may result in hypertension.

Patient education is necessary as has been described for other endocrine disorders. Parents should understand the child’s need for life-long therapy and the side effects, as well as signs of underdosage and requirements during illness. The need for compliance requires to be stressed and the importance of the child carrying appropriate identification. Surgical intervention may be necessary for reconstruction of the female genitalia as soon as possible during infancy in an effort to support ongoing physical and psychological development. Multiple surgical procedures may be necessary, which will require ongoing psychological support for the child and parents. They require ongoing support as they come to terms with the sex of the baby and decisions that they may have to make regarding the need for surgical interventions. Reassurance regarding surgical interventions and the future care and treatment, which will be a life-long commitment, need to be discussed.

Ambiguity in relation to the sex of the newborn can have a devastating effect on parents and other siblings. At this time, anticipation of parental reaction, which may be likened to the process of bereavement and loss, may enhance the nurse’s ability to engage in a more therapeutic way at this time. Parents need to have information in relation to the infant’s condition reinforced while at the same time being provided with the opportunity to express their own sorrow, loss and disappointment. A decision regarding gender should only be made once all investigations are completed and naming the baby should also be delayed until gender determination is made. Their beliefs and values on gender need to be explored. The healthcare professional should avoid referring to the baby as ‘your son’ or ‘your daughter’ and instead refer to the baby as ‘your baby’. Genetic counselling should be provided for the child when they reach adolescence and supportive counselling should be organised for the parents along with genetic screening for any future pregnancies.