Metabolic and Endocrine Disorders

Nursing role
A Pediatric Nurse, or Children’s Nurse, is a healthcare professional who provides
basic medical support to children, often alongside a Pediatrician or Family Doctor.
Their duties include communicating with children of different abilities and
developmental levels about their symptoms, talking to patients and their families
about medical issues and recording the child’s vital signs and lab results.
Pediatric Nurse Duties and Responsibilities
Pediatric Nurses use specialized nursing skills for their young patients. Here are
some of their duties and responsibilities:
 Check in child patients, evaluating their symptoms and checking their vital
signs
 Complete diagnostic tests
 Administer medications or minor procedures
 Create a treatment plan or coordinate follow-up medical care
 Educate family members on treatment options
Pediatric Nurses work at hospitals, health clinics and private pediatric practices to
provide nursing services for infants, children and teens. They have an advanced
understanding of childhood development that they use to interact with patients and
administer age-appropriate treatments and medications. Pediatric Nurses often
work with the same child throughout their adolescence, tracking their growth and
looking for any developmental issues or abnormal changes in their labs.

Pediatric Nurses observe the child’s behavior looking for signs of symptoms that
they may not be able to communicate themselves. Pediatric Nurses talk to the
patient to help them feel safe and secure in a healthcare environment and discuss
their care with any guardians within the bounds of confidentiality rules.

Endocrine Disorders
Endocrine disorders involve an abnormality of one of the body’s endocrine glands.
Among the endocrine disorders, thyroid problems are the most common.
Thyroid underactivity/overactivity
Of the endocrine disorders, thyroid diseases are the most common. Effective
treatment of thyroid over-activity (hyperthyroidism) and under-activity
(hypothyroidism) is important in both the short term and long term. Although
treating underactive thyroid is a bit more complex, either condition can be treated
effectively.
Thyroid growths
Most thyroid growths do not have serious consequences. A technique called ―fine-
needle aspiration‖ can be used to identify the minority of thyroid growths that are
cancerous. The technique involves insertion of a small needle into the thyroid
growth and withdrawing a small amount of fluid — much like drawing a blood
sample from a vein. Cells in that fluid are then examined under a microscope.
Other endocrine disorders
Disorders of the other endocrine glands are less common. The expertise of an
endocrinologist often is needed to select the most efficient diagnostic approach,
assess the need for treatment, select the best treatment approach, and assure a
favorable outcome.
Metabolic Disorders
Diabetes mellitus
Diabetes mellitus is the most common endocrine/metabolic disorder. It affects
6.5% of the U.S. population. It is more common as we age and is more prevalent in
African Americans, Latinos and Native Americans. Although the disease is
potentially devastating, it is now well established that comprehensive treatment
makes a difference in the health of diabetics in the short-term and the long term. It
prevents or delays complications that can lead to blindness, kidney failure or
amputations, as well as the nonspecific complications such as heart attack or stroke
that often occur in people with diabetes.

Endocrinologists’ goal is to prevent complications or, failing that, to recognize

complications early when they can be treated effectively. This includes controlling
blood sugar, blood cholesterol and blood pressure, as well as detecting early
damage to the eyes, kidneys and nerves.

Hyperlipidemia
It is now well established that lowering high cholesterol levels reduces the risk of
death from a heart attack, which is the single most common cause of death in our
society.
Osteoporosis
Thin bones can lead to debilitating bone fractures. Osteoporosis can be largely
prevented. Even established osteoporosis can now be treated.
Congenital Goiter
Congenital goiter is a diffuse or nodular enlargement of the thyroid gland present
at birth. Thyroid hormone secretion may be decreased, increased, or normal.
Diagnosis is by confirming thyroid size with ultrasonography. Treatment is thyroid
hormone replacement when hypothyroidism is the cause. Surgery is indicated
when breathing or swallowing is impaired.

Etiology of Congenital Goiter

Congenital goiter may be caused by dyshormonogenesis (abnormal thyroid
hormone production), transplacental passage of maternal antibodies, or
transplacental passage of goitrogens. Some causes of congenital goiter are
hereditary.
Dyshormonogenesis
Genetic defects in thyroid hormone production result in increased levels of thyroid-
stimulating hormone (TSH), which in turn can cause congenital goiter. Goiter is
present in about 15% of cases of congenital hypothyroidism. There are a number of
gene abnormalities that cause dyshormonogenesis; they commonly have an
autosomal recessive form of inheritance, and many are single-gene defects.
Dyshormonogenesis can result from a defect in any of the steps in thyroid hormone
biosynthesis, including
 Failure to concentrate iodide
 Defective organification of iodide due to an abnormality in the thyroid
peroxidase enzyme or in the hydrogen peroxide–generating system .
 Defective thyroglobulin synthesis or transport
 Abnormal iodotyrosine deiodinase activity
Children with Pendred syndrome have mild hypothyroidism or euthyroidism,
goiter, and sensorineural hearing loss due to a genetic abnormality of a protein
(pendrin) involved in iodine transport and cochlear function. Although Pendred
syndrome is caused by a genetic defect, it rarely manifests in the newborn period.
Transplacental passage of maternal antibodies
Women with an autoimmune thyroid disorder produce antibodies that may cross
the placenta during the 3rd trimester. Depending on the disorder, the antibodies
either block thyroid-stimulating hormone receptors, causing hypothyroidism, or
stimulate them, causing hyperthyroidism. Typically, in affected infants, the
changes in hormone secretion and the associated goiter resolve spontaneously
within 3 to 6 months.
Transplacental passage of goitrogens
Goitrogens, such as amiodarone or antithyroid drugs (eg, propylthiouracil,
methimazole), taken by the mother can cross the placenta, sometimes causing
hypothyroidism and rarely causing goiter.
Symptoms and Signs of Congenital Goiter
The most common manifestation of congenital goiter is firm, nontender
enlargement of the thyroid. Enlargement is most often diffuse but can be nodular.
It may be noticeable at birth or detected later. In some patients, enlargement is not
directly observable, but continued growth can cause deviation or compression of
the trachea, compromising breathing and swallowing. Many children with goiters
are euthyroid, but some present with hypothyroidism or hyperthyroidism.
Diagnosis of Congenital Goiter
Ultrasonography
If the diagnosis of congenital goiter is suspected, thyroid size is typically assessed
by ultrasonography. Free thyroxine (T4) and thyroid-stimulating hormone levels are measured
Treatment of Congenital Goiter
 Surgical treatment of enlargement causing symptoms related to compression
 Sometimes thyroid hormone
Hypothyroidism is treated with thyroid hormone.
Goiters that compromise breathing and swallowing can be treated surgically.

Delayed Puberty
Delayed puberty is absence of sexual maturation at the expected time. Diagnosis is
by measurement of gonadal hormones (testosterone and estradiol), luteinizing
hormone, and follicle-stimulating hormone. Treatment, when necessary, usually
involves specific hormone replacement.
Delayed puberty may result from constitutional delay, which often occurs in
adolescents with a family history of delayed growth. Such children are often
referred to as "late bloomers." Prepubertal growth velocity is normal, but skeletal
maturation and adolescent growth spurt are delayed; sexual maturation is delayed
but normal.
Other causes include genetic disorders (Turner syndrome in girls, Klinefelter
syndrome in boys), central nervous system (CNS) disorders (eg, hypothalamic or
pituitary tumors that reduce gonadotropin secretion), CNS radiation, certain
chronic disorders (eg, poorly controlled diabetes mellitus, inflammatory bowel
disorders, renal disorders, cystic fibrosis), Kallman
syndrome, undernutrition/eating disorders, and excess physical activity, especially
in girls .
Symptoms and Signs of Delayed Puberty
Adolescents may be noticeably shorter than peers, can be teased or bullied, and
often need help in coping with and managing social concerns. Although
adolescents are typically uncomfortable about being different from their peers,
boys are more likely than girls to feel psychologic stress and embarrassment
resulting from short stature and delayed puberty.
Manifestations of possible causes of delayed puberty
Signs of possible chronic disease include an abrupt change in growth,
undernutrition, discordant development (eg, pubic hair without breast
development), or stalled pubertal development (ie, puberty starts then fails to
progress).
Neurologic symptoms (eg, headaches, vision problems), polydipsia,
and/or galactorrhea could suggest a CNS disorder. Hyposmia or anosmia could
indicate Kallman syndrome.
Gastrointestinal symptoms could suggest an inflammatory bowel disorder. An
abnormal body image (eg, false belief in being overweight) suggests the need to
evaluate for an eating disorder.
Primary amenorrhea could suggest Turner syndrome.
Diagnosis of Delayed Puberty
 Clinical criteria
 Measurement of testosterone or estradiol , luteinizing hormone (LH), and
follicle-stimulating hormone (FSH)
 Imaging studies
 Genetic testing
The initial evaluation of delayed puberty should consist of a complete history and
physical examination to evaluate pubertal development, nutritional status, and
growth. Depending on findings, laboratory tests for other causes of slow growth
should be considered:
 Hypothyroidism (eg, thyroid-stimulating hormone, thyroxine)
 Renal disorders (eg, electrolytes, creatinine levels)
 Inflammatory and immune conditions (eg, tissue transglutaminase antibodies,
C-reactive protein)
 Hematologic disorders (eg, complete blood count with differential)

Criteria for delayed puberty

In girls, delayed puberty is diagnosed if one of the following occurs:
 No breast development by age 13
 > 3 years elapsed between the beginning of breast growth and menarche
 Menstruation does not occur by age 16
In boys, delayed puberty is diagnosed if one of the following occurs:
 No testicular enlargement by age 14
 > 5 years elapsed between initial and complete growth of the genitals
Short stature, decreased growth velocity, or both may indicate delayed puberty in
either sex. Although many children seem to be starting puberty earlier than in past
years, there are no indications that the criteria for delayed puberty should change.
Hormonal testing
LH, FSH, and testosterone or estradiol levels are measured. LH and FSH are
gonadotropins secreted by the pituitary, which stimulate production of sex
hormones. LH and FSH levels are the most useful initial tests (see also
algorithm Evaluation of primary amenorrhea).
Elevated serum LH and FSH levels indicate
 Gonadal failure caused by defects of the gonads themselves (primary
hypogonadism [hypergonadotropic hypogonadism])
In such cases, karyotype analysis should be done to investigate for Klinefelter
syndrome in boys and Turner syndrome in girls. If karyotype is normal, girls with
severe pubertal delay should be further investigated for other causes of primary
ovarian insufficiency.
Low FSH and LH levels along with low testosterone and estradiol levels in
children with short stature and delayed pubertal development may indicate
 Constitutional delay
 Secondary hypogonadism (hypogonadotropic hypogonadism)
Current assays for testosterone and estradiol levels do not always distinguish early
pubertal from prepubertal levels. Constitutional delay of puberty is more
commonly diagnosed in boys, partly because adolescent boys are more distressed
if they do not mature at the same rate as their peers and are thus more likely to
present for evaluation. It can be difficult to distinguish constitutional delay of
puberty from permanent causes of hypogonadotropic hypogonadism. Chronic
disorders that cause inadequate nutrition can delay puberty by impairing
gonadotropin-releasing hormone release. Permanent forms of hypogonadotropic
hypogonadism are more likely if there is a lack of response to one or two short
courses of testosterone therapy. If a pituitary disorder is suspected, levels of other
pituitary hormones should be measured because hypogonadotropic hypogonadism
can be isolated or associated with other hormone deficiencies.
Imaging studies
When growth is abnormal, bone age x-ray should be the first test. Bone age is
determined from an x-ray of the left hand (by convention) and can provide an
estimate of remaining growth potential and help predict adult height.
Evaluating the pituitary gland with MRI may be indicated to rule out tumors and
structural anomalies in suspected hypogonadotropic hypogonadism.
Genetic testing
About one third of cases of hypogonadotropic hypogonadism are genetic, and
Kallman syndrome is the most common cause (see Secondary hypogonadism). If
other pituitary hormone deficiencies are noted, specific genetic abnormalities may
be present (eg, PROP1).
Treatment of Delayed Puberty
 Hormone therapy
If boys show no sign of pubertal development or of skeletal maturation beyond 11
to 12 years by age 14, they may be given a 4- to 6-month course of low-dose
testosterone enanthate or testosterone cypionate 50 to 100 mg IM once/month.
These low doses induce puberty with some degree of virilization and do not
jeopardize adult height potential. After the course is complete, treatment is stopped
and after several weeks or months testosterone levels are measured; an increase to
pubertal levels suggest the deficiency was temporary rather than permanent. If
testosterone levels are not higher than the initial value and/or pubertal development
does not continue after completion of treatment, a second course of low-dose
treatment can be given. If endogenous puberty has not begun after two courses of
treatment, the likelihood of permanent deficiency is higher, and patients need to be
reevaluated for other causes of hypogonadism. For permanent forms of
hypogonadism, the testosterone dose is increased over an 18- to 24-month period
towards adult replacement doses (see treatment of male hypogonadism in
children).
In girls, depending on the cause, hormone therapy may be used to induce puberty
or, in some cases (eg, Turner syndrome), may be needed for long-term
replacement. Estrogen replacement is given in the form of pills or patches, and the
dose is increased over an 18- to 24-month period. Girls can be transitioned to
combined estrogen-progestin oral contraceptive preparations for long-term
treatment.

Key Points
 Delayed puberty may represent constitutional delay or be caused by a variety
of genetic or acquired disorders.
 Measure levels of testosterone or estradiol, luteinizing hormone, and follicle-
stimulating hormone.
 Do a bone age x-ray as part of initial evaluation.
 Pituitary imaging and genetic testing may be done to diagnose cause.
 Hormone therapy may be indicated to induce puberty or as long-term
replacement.

Diabetes Mellitus in Children and Adolescents

Diabetes mellitus involves absence of insulin secretion (type 1) or peripheral
insulin resistance (type 2), causing hyperglycemia. Early symptoms are related to
hyperglycemia and include polydipsia, polyphagia, polyuria, and weight loss.
Diagnosis is by measuring plasma glucose levels. Treatment depends on type but
includes drugs that reduce blood glucose levels, diet, and exercise.

The types of diabetes mellitus (diabetes) in children are similar to those in adults,
but psychosocial problems are different and can complicate treatment.
Type 1 diabetes is the most common type in children, accounting for two thirds of
new cases in children of all ethnic groups. It is one of the most common chronic
childhood diseases, occurring in 1 in 350 children by age 18; the incidence has
recently been increasing, particularly in children < 5 years. Although type 1 can
occur at any age, it typically manifests between age 4 years and 6 years or between
10 years and 14 years.
Type 2 diabetes, once rare in children, has been increasing in frequency in parallel
with the increase in childhood obesity (see obesity in children). It typically
manifests after puberty, with the highest rate between age 15 years and 19 years
(see obesity in adolescents).
Monogenic forms of diabetes, previously termed maturity-onset diabetes of youth
(MODY), are not considered type 1 or type 2 (although they are sometimes
mistaken for them) and are uncommon (1 to 4% of cases).
Prediabetes is impaired glucose regulation resulting in intermediate glucose levels
that are too high to be normal but do not meet criteria for diabetes. In obese
adolescents, prediabetes may be transient (with reversion to normal in 2 years in
60%) or progress to diabetes, especially in adolescents who persistently gain
weight. Prediabetes is associated with the metabolic syndrome (impaired glucose
regulation, dyslipidemia, hypertension, obesity).
Etiology of Diabetes in Children and Adolescents
There appears to be a familial component to all types of diabetes in children,
although the incidence and mechanism vary.
In type 1 diabetes, the pancreas produces no insulin because of autoimmune
destruction of pancreatic beta-cells, possibly triggered by an environmental
exposure in genetically susceptible people. Close relatives are at increased risk of
diabetes (about 15 times the risk of the general population), with overall incidence
4 to 8% (30 to 50% in monozygotic twins). Children with type 1 diabetes are at
higher risk of other autoimmune disorders, particularly thyroid disease and celiac
disease. Inherited susceptibility to type 1 diabetes is determined by multiple genes
(> 60 risk loci have been identified). Susceptibility genes are more common among
some populations and explain the higher prevalence of type 1 diabetes in certain
ethnic groups (eg, Scandinavians, Sardinians).
In type 2 diabetes, the pancreas produces insulin, but there are varying degrees of
insulin resistance and insulin secretion is inadequate to meet the increased demand
caused by insulin resistance (ie, there is relative insulin deficiency). Onset often
coincides with the peak of physiologic pubertal insulin resistance, which may lead
to symptoms of hyperglycemia in previously compensated adolescents. The cause
is not autoimmune destruction of beta-cells but rather a complex interaction
between many genes and environmental factors, which differ among different
populations and patients. Risk factors include
 Obesity
 Native American, black, Hispanic, Asian American, and Pacific Islander
heritage
  Positive family history (60 to 90% have a 1st- or 2nd-degree relative with
type 2 diabetes)
Monogenic forms of diabetes are caused by genetic defects that are inherited in an
autosomal dominant pattern, so patients typically have one or more affected family
members. There is no insulin resistance or autoimmune destruction of beta-cells.
Onset is usually before age 25 years.
Pathophysiology of Diabetes in Children and Adolescents
In type 1 diabetes, lack of insulin causes hyperglycemia and impaired glucose
utilization in skeletal muscle. Muscle and fat are then broken down to provide
energy. Fat breakdown produces ketones, which cause acidemia and sometimes a
significant, life-threatening acidosis (diabetic ketoacidosis [DKA]).
In type 2 diabetes, there is usually enough insulin function to prevent DKA at
diagnosis, but children can sometimes present with DKA (up to 25%) or, less
commonly, hyperglycemic hyperosmolar state (HHS), in which severe
hyperosmolar dehydration occurs. HHS most often occurs during a period of stress
or infection, with nonadherence to treatment regimens, or when glucose
metabolism is further impaired by drugs (eg, corticosteroids). Other metabolic
derangements associated with insulin resistance can be present at diagnosis of type
2 diabetes and include
 Dyslipidemia (leading to atherosclerosis)
 Hypertension
 Polycystic ovary syndrome
 Obstructive sleep apnea
 Nonalcoholic steatohepatitis (fatty liver)
Atherosclerosis begins in childhood and adolescence and markedly increases risk
of cardiovascular disease.
In monogenic forms of diabetes, the underlying defect depends on the type. The
most common types are caused by defects in transcription factors that regulate
pancreatic beta-cell function (eg, hepatic nuclear factor 4-alpha [HNF-4-α], hepatic
nuclear factor 1-alpha [HNF-1-α]). In these types, insulin secretion is impaired but
not absent, there is no insulin resistance, and hyperglycemia worsens with age.
Another type of monogenic diabetes is caused by a defect in the glucose sensor,
glucokinase. With glucokinase defects, insulin secretion is normal but glucose
levels are regulated at a higher set point, causing fasting hyperglycemia that
worsens minimally with age.
Symptoms and Signs of Diabetes in Children and
Adolescents
In type 1 diabetes, initial manifestations vary from asymptomatic hyperglycemia to
life-threatening diabetic ketoacidosis. However, most commonly, children have
symptomatic hyperglycemia without acidosis, with several days to weeks of
urinary frequency, polydipsia, and polyuria. Polyuria may manifest as nocturia,
bed-wetting, or daytime incontinence; in children who are not toilet-trained,
parents may note an increased frequency of wet or heavy diapers. About half of
children have weight loss as a result of increased catabolism and also have
impaired growth. Fatigue, weakness, candidal rashes, blurry vision (due to the
hyperosmolar state of the lens and vitreous humor), and/or nausea and vomiting
(due to ketonemia) may also be present initially.
In type 2 diabetes, children are often asymptomatic and their condition may be
detected only on routine testing. However, some children present with
symptomatic hyperglycemia, HHS, or, despite the common misconception, DKA.
Complications of diabetes in children
Diabetic ketoacidosis is common among patients with known type 1 diabetes; it
develops in about 1 to 10% of patients each year, usually because they have not
taken their insulin. Other risk factors for DKA include prior episodes of DKA,
difficult social circumstances, depression or other psychiatric disturbances,
intercurrent illness, and use of an insulin pump (because of a kinked or dislodged
catheter, poor insulin absorption due to infusion site inflammation, or pump
malfunction). Clinicians can help minimize the effects of risk factors by providing
education, counseling, and support.
Psychosocial problems are very common among children with diabetes and their
families. Up to half of children develop depression, anxiety, or other psychologic
problems. Eating disorders are a serious problem in adolescents, who sometimes
also skip insulin doses in an effort to control weight. Psychosocial problems can
also result in poor glycemic control by affecting children's ability to adhere to their
dietary and/or drug regimens. Social workers and mental health professionals (as
part of a multidisciplinary team) can help identify and alleviate psychosocial
causes of poor glycemic control.
Vascular complications rarely are clinically evident in childhood. However, early
pathologic changes and functional abnormalities may be present a few years after
disease onset in type 1 diabetes; prolonged poor glycemic control is the greatest
long-term risk factor for the development of vascular complications. Microvascular
complications include diabetic nephropathy, retinopathy, and neuropathy.
Microvascular complications are more common among children with type 2
diabetes than type 1 diabetes and in type 2 diabetes may be present at diagnosis or
earlier in the disease course. Although neuropathy is more common among
children who have had diabetes for a long duration (≥ 5 years) and poor control
(glycosylated hemoglobin [HbA1c] > 10%), it can happen in young children who
have had diabetes for a short duration and good control. Macrovascular
complications include coronary artery disease, peripheral vascular disease, and
stroke.
Diagnosis of Diabetes in Children and Adolescents
 Fasting plasma glucose level ≥ 126 mg/dL (≥ 7.0 mmol/L)
 Random glucose level ≥ 200 mg/dL ( ≥ 11.1 mmol/L)
 Glycosylated hemoglobin (HbA1c) ≥ 6.5%
 Sometimes oral glucose tolerance testing
(For recommendations about diagnosis, see also the American Diabetes
Association's standards in medical care in diabetes and the International Society for
Pediatric and Adolescent Diabetes' (ISPAD) guidelines for type 2 diabetes in
children and adolescents.)
Diagnosis of diabetes in children
Diagnosis of diabetes and prediabetes is similar to that in adults, typically using
fasting or random plasma glucose levels and/or HbA1c levels, and depends on the
presence or absence of symptoms (see Table: Diagnostic Criteria for Diabetes
Mellitus and Impaired Glucose Regulation). Diabetes may be diagnosed with the
presence of classic symptoms of diabetes and blood glucose measurements.
Measurements are random plasma glucose ≥ 200 mg/dL ( ≥ 11.1 mmol/L) or
fasting plasma glucose ≥ 126 mg/dL (≥ 7.0 mmol/L); fasting is defined as no
caloric intake for 8 hours.
An oral glucose tolerance test is not required and should not be done if diabetes
can be diagnosed by other criteria. When needed, the test should be done using
1.75 g/kg (maximum 75 g) glucose dissolved in water. The test may be helpful in
children without symptoms or with mild or atypical symptoms and may be helpful
in suspected cases of type 2 or monogenic diabetes. The HbA1c criterion is
typically more useful to diagnose type 2 diabetes, and hyperglycemia should be
confirmed.

Treatment of Diabetes in Children and Adolescents

 Diet and exercise
 For type 1 diabetes, insulin
 For type 2 diabetes, metformin and sometimes insulin or liraglutide
Intensive education and treatment in childhood and adolescence may help achieve
treatment goals, which are to normalize blood glucose levels while minimizing the
number of hypoglycemic episodes and to prevent or delay the onset and
progression of complications. (For recommendations about treatment, see also the
American Diabetes Association's standards in medical care in diabetes and the
International Society for Pediatric and Adolescent Diabetes' (ISPAD) guidelines
for type 2 diabetes in children and adolescents.)

Lifestyle modifications
Lifestyle modifications that benefit all patients include
 Eating regularly and in consistent amounts
 Limiting intake of refined carbohydrates and saturated fats
 Increasing physical activity
In general, the term diet should be avoided in favor of meal plan or healthy food
choices. The main focus is on encouraging heart-healthy diets low in cholesterol
and saturated fats.

In type 1 diabetes, the popularity of basal–bolus regimens and the use of

carbohydrate counting (parents estimate the amount of carbohydrate in an
upcoming meal and use that amount to calculate the preprandial insulin dose) has
changed meal plan strategies. In this flexible approach, food intake is not rigidly
specified. Instead, meal plans are based on the child's usual eating patterns rather
than on a theoretically optimal diet to which the child is unlikely to adhere, and
insulin dose is matched to actual carbohydrate intake. The insulin:carbohydrate
ratio is individualized but varies with age, activity level, pubertal status, and length
of time from initial diagnosis. A good rule of thumb for age is
 Birth to 5 years: 1 unit insulin per 30 g carbohydrate
 6 to 12 years: 1 unit insulin per 15 g carbohydrate
 Adolescence: 1 unit insulin per 8 to 10 g carbohydrate

In type 2 diabetes, patients should be encouraged to lose weight and thus increase
insulin sensitivity. A good rule of thumb to determine the amount of calories
needed by a child age 3 to 13 years is 1000 calories + (100 × child's age in years).
Simple steps to improve the diet and manage caloric intake include
 Eliminating sugar-containing drinks and foods made of refined, simple sugars
(eg, processed candies and high fructose corn syrups)
 Discouraging skipping meals
 Avoiding grazing on food throughout the day
 Controlling portion size
 Limiting high-fat, high-calorie foods in the home
 Increasing fiber intake by eating more fruits and vegetables

Key Points
 Type 1 diabetes is caused by an autoimmune attack on pancreatic beta-cells,
causing complete lack of insulin; it accounts for two thirds of new cases in
children and can occur at any age.
 Type 2 diabetes is caused by insulin resistance and relative insulin deficiency
due to a complex interaction among many genetic and environmental factors
(particularly obesity); it is increasing in frequency in children and occurs after
puberty.
 Most children have symptomatic hyperglycemia without acidosis, with
several days to weeks of urinary frequency, polydipsia, and polyuria; children
with type 1 diabetes and rarely type 2 diabetes may present with diabetic
ketoacidosis.
 Screen asymptomatic, at-risk children for type 2 diabetes or prediabetes.
  All children with type 1 diabetes require insulin treatment; intensive glycemic
control helps prevent long-term complications but increases risk of
hypoglycemic episodes.
 Advances in diabetes technology, such as continuous glucose monitoring
systems, are aimed at improving glycemic control while reducing
hypoglycemic episodes.
 Children with type 2 diabetes are initially treated
with metformin and/or insulin; although most children requiring insulin at
diagnosis can be successfully transitioned to metformin monotherapy, about
half eventually require insulin treatment.
 Liraglutide can be used in combination with metformin to improve glycemic
control.
 Psychosocial problems can lead to poor glycemic control through lack of
adherence to dietary and drug regimens.
 Insulin doses are adjusted based on frequent glucose monitoring and
anticipated carbohydrate intake and activity levels.
 Children are at risk of microvascular and macrovascular complications of
diabetes, which must be sought by regular screening tests.

Growth Hormone Deficiency in Children

Growth hormone deficiency is the most common pituitary hormone deficiency in
children and can be isolated or accompanied by deficiency of other pituitary
hormones. Growth hormone deficiency typically results in abnormally slow growth
and short stature with normal proportions. Diagnosis involves measurement of
pituitary hormone levels and CT or MRI to detect structural pituitary anomalies or
brain tumors. Treatment usually involves specific hormone replacement and
removal of any causative tumor.
Patients with growth hormone deficiency associated with generalized
hypopituitarism (panhypopituitarism) will also have deficiency of one or more
other pituitary hormones (eg, follicle-stimulating hormone [FSH], luteinizing
hormone [LH], adrenocorticotropic hormone [ACTH], thyroid-stimulating
hormone [TSH], antidiuretic hormone [ADH]). Hypopituitarism can be primary (a
pituitary disorder) or secondary to interference with hypothalamic secretion of
specific releasing hormones that control anterior pituitary hormone (GH, FSH, LH,
ACTH, TSH) production.
Etiology of Growth Hormone Deficiency in Children
Growth hormone (GH) deficiency can occur in isolation or in association with
generalized hypopituitarism. In both instances, growth hormone deficiency may be
acquired or congenital (including hereditary genetic causes). Rarely, GH is not
deficient but the GH receptors are abnormal (GH insensitivity).
Isolated growth hormone deficiency is estimated to occur in 1/4,000 to 1/10,000
children. It is usually idiopathic, but about 25% of patients have an identifiable
etiology. Congenital causes include abnormalities of the GH-releasing hormone
receptor and of the GH1 gene and certain central nervous system (CNS)
malformations. Acquired causes include therapeutic radiation of the CNS (high-
dose radiation can cause generalized hypopituitarism), meningitis, histiocytosis,
and brain injury. Radiation of the spine, either prophylactic or therapeutic, may
further impair the growth potential of the vertebrae and further jeopardize height
gain.
Generalized hypopituitarism may have genetic causes, involving hereditary or
sporadic mutations that affect cells of the pituitary. In such cases, there also may
be anomalies of other organ systems, particularly midline defects, such as cleft
palate or septo-optic dysplasia (which involves absence of the septum pellucidum,
optic nerve atrophy, and hypopituitarism). Generalized hypopituitarism also can be
acquired from many types of lesions that affect the hypothalamus (impairing
secretion of releasing hormones) or pituitary; examples include tumors (eg, most
commonly craniopharyngioma), infections (eg, tuberculosis, toxoplasmosis,
meningitis), and infiltrative disorders. The combination of lytic lesions of the
bones or skull and diabetes insipidus suggests Langerhans cell histiocytosis.
Symptoms and Signs of Growth Hormone Deficiency
Manifestations of growth hormone deficiency depend on the patient's age, the
underlying etiology, and the specific hormone deficiencies.
Growth hormone deficiency itself typically manifests as growth failure, sometimes
along with delay in tooth development. Height is below the 3rd percentile, and
growth velocity is < 6 cm/year before age 4 years, < 5 cm/year from age 4 to 8
years, and < 4 cm/year before puberty. Although of small stature, a child with
hypopituitarism retains normal proportionality between upper and lower body
segments. Skeletal maturation, assessed by bone age determination, is > 2 years
behind chronologic age.
Other abnormalities may be present, depending on the underlying defect, and the
child may have delayed or absent pubertal development. Weight gain may be out
of proportion to growth, resulting in relative obesity. Neonates who have
congenital defects of the pituitary or hypothalamus may have hypoglycemia
(which also can occur in older children), hyperbilirubinemia, midline defects (eg,
cleft palate), or micropenis, as well as manifestations of other endocrine
deficiencies.
Diagnosis of Growth Hormone Deficiency in Children
 Clinical evaluation, including growth criteria and other medical history
 Imaging studies
 Insulin-like growth factor 1 (IGF-1) levels and IGF binding protein type 3
(IGFBP-3) levels
 Usually confirmation by provocative testing
 Evaluation of other pituitary hormones and for other causes of poor growth
Current consensus guidelines for diagnosis of growth hormone deficiency require
integration of growth criteria, medical history, laboratory testing, and imaging
results.
Growth is assessed; data for height and weight should be plotted on a growth chart
(auxologic assessment) for all children. (For children 0 to 2 years, see World
Health Organization [WHO] Growth Charts; for children 2 years and older, see
Centers for Disease Control and Prevention [CDC] Growth Charts.)
Measurement of IGF-1 and IGFBP-3 levels begins the assessment of the GH/IGF-1
axis. IGF-1 reflects GH activity, and IGFBP-3 is the major carrier of IGF peptides.
Levels of IGF-1 and IGFBP-3 are measured because GH levels are pulsatile,
highly variable, and difficult to interpret.
IGF-1 levels vary by age and should be interpreted relative to bone age rather than
to chronologic age. IGF-1 levels are lowest in infancy and early childhood (< 5
years) and thus do not reliably discriminate between normal and subnormal in
these age groups. However, IGFBP-3 levels, unlike IGF-1, are less affected by
undernutrition and allow discrimination between normal and subnormal in younger
children. At puberty, IGF-1 levels rise and normal levels help exclude GH
deficiency. Low IGF-1 levels in older children suggest GH deficiency; however,
IGF-1 levels are low in conditions other than GH deficiency (eg, psychosocial
deprivation, undernutrition, celiac disease, hypothyroidism) and these disorders
must be excluded.
In children with low levels of IGF-1 and IGFBP-3, GH deficiency is usually
confirmed by measuring GH levels. Because basal GH levels are typically low or
undetectable (except after the onset of sleep), random GH levels are not useful and
assessment of GH levels requires provocative testing. However, provocative
testing is nonphysiologic, subject to laboratory error, and poorly reproducible.
Also, the definition of a normal response varies by age, sex, and testing center and
is based on limited evidence.
Imaging studies are done when growth is abnormal; bone age should be
determined from an x-ray of the left hand (by convention). In GH deficiency,
skeletal maturation is usually delayed to the same extent as height. With GH
deficiency, evaluating the pituitary gland and hypothalamus with MRI is indicated
to rule out calcifications, tumors, and structural anomalies.
Screening laboratory tests are done to look for other possible causes of poor
growth, including
 Hypothyroidism (eg, thyroid-stimulating hormone, thyroxine)
 Renal disorders (eg, electrolytes, creatinine levels)
 Inflammatory and immune conditions (eg, tissue transglutaminase antibodies,
C-reactive protein)
 Hematologic disorders (eg, complete blood count with differential)
Genetic testing for specific syndromes (eg, Turner syndrome) may be indicated by
physical findings or if growth pattern differs significantly from family. If GH
deficiency is highly suspected, additional tests of pituitary function are done (eg,
ACTH, 8 AM serum cortisol level, LH, FSH, and prolactin levels).
Provocative testing
Because GH responses are typically abnormal in patients with diminished thyroid
or adrenal function, provocative testing should be done in these patients only after
adequate hormone replacement therapy.
The insulin tolerance test is the best provocative test for stimulating GH release but
is rarely done because it is risky. Other provocative tests are less dangerous but
also less reliable. These include tests using arginine infusion (500 mg/kg IV given
over 30 minutes), clonidine (0.15 mg/m2 orally [maximum 0.25 mg]), levodopa
(10 mg/kg orally for children; 500 mg orally for adults), and glucagon (0.03 mg/kg
IV [maximum 1 mg]). GH levels are measured at different times after drug
administration depending on the drug.
Because no single test is 100% effective in eliciting GH release, two GH
provocation tests are done (typically on the same day). GH levels generally peak
30 to 90 minutes after administration of insulin or the onset of arginine infusion, 30
to 120 minutes after levodopa, 60 to 90 minutes after clonidine, and 120 to 180
minutes after glucagon. The GH response that is considered normal is somewhat
arbitrary. Generally, any stimulated GH level > 10 ng/mL (> 10 mcg/L) is
sufficient to rule out GH deficiency. GH deficiency may be considered for
responses < 10 ng/mL (< 10 mcg/L; some centers use a lower cutoff, eg, 7 ng/mL
[7 mcg/L]) to two pharmacologic stimuli, but results must be interpreted in the
context of auxologic data. Because GH levels rise during puberty, many children
who fail provocative GH stimulation testing before puberty may have normal
results after puberty or when primed with gonadal steroids.
Provocative testing may not detect subtle defects in the regulation of GH release.
For example, in children with short stature secondary to GH secretory dysfunction,
results of provocative testing for GH release are usually normal. However, serial
measurements of GH levels over 12 to 24 hours indicate abnormally low 12- or 24-
hour integrated GH secretion. However, this test is expensive and uncomfortable
and thus is not the test of choice for GH deficiency.
If diminished GH release is confirmed, tests of secretion of other pituitary
hormones and (if abnormal) hormones of their target peripheral endocrine glands
along with pituitary imaging studies must be done if not done previously.
Treatment of Growth Hormone Deficiency in Children
 Recombinant GH supplements
 Sometimes other pituitary hormone replacement
(See also the Pediatric Endocrine Society's guidelines for growth hormone and
insulin-like growth factor-1 treatment in children and adolescents.)
Recombinant GH is indicated for all children with short stature who have
documented growth hormone deficiency. Dosing is usually from 0.03 to 0.05
mg/kg subcutaneously once a day. With therapy, height velocity often increases to
10 to 12 cm/year in the first year and, although it increases more slowly thereafter,
remains above pretreatment rates. Therapy is continued until an acceptable height
is reached or growth rate falls below 2.5 cm/year.
Adverse effects of GH therapy are few but include idiopathic intracranial
hypertension (pseudotumor cerebri), slipped capital femoral epiphysis, and
transient mild peripheral edema. Before the advent of recombinant GH, GH
extracted from pituitary glands was used. This preparation rarely led to
Creutzfeldt-Jakob disease 20 to 40 years after treatment. Pituitary-extracted GH
was last used in the 1980s.
It is controversial whether short children with clinical features of growth hormone
deficiency but with normal GH secretion and normal IGF-1 levels should be
treated with GH. Many experts recommend a trial of GH therapy for 6 to 12
months, continuing GH only if there is a doubling of or an increase of 3 cm/year
over the pretreatment height velocity. Others object to this approach because it is
expensive, is experimental, may lead to adverse effects, labels otherwise healthy
children as abnormal, and raises ethical and psychosocial concerns that feed into
the bias of ―heightism.‖
When other pituitary hormone deficiencies accompany growth hormone
deficiency, additional hormone replacement is required. Cortisol (see Treatment)
and thyroid hormone (see Treatment) should be replaced throughout childhood,
adolescence, and adulthood when circulating levels of these hormones are low.
Diabetes insipidus typically requires lifelong treatment with desmopressin in tablet
or intranasal form (see Treatment). When puberty fails to occur normally,
treatment with gonadal sex steroids is indicated (see Delayed Puberty).
GH therapy in children with short stature due to therapeutic radiation of the
pituitary gland for cancer carries a theoretic risk of causing cancer recurrence.
However, studies have not shown a greater-than-expected incidence of new
cancers or a greater recurrence rate. GH replacement can probably be safely
instituted at least 1 year after the successful completion of anticancer therapy.

Key Points
 Growth hormone (GH) deficiency can occur in isolation or in association
with generalized hypopituitarism.
 Causes include congenital (including genetic) disorders and a number of
acquired disorders of the hypothalamus and/or pituitary.
  GH deficiency causes short stature; numerous other manifestations may be
present depending on the cause.
 Diagnosis is based on a combination of clinical findings, imaging studies, and
laboratory testing, usually including provocative tests of GH release.
 Children with short stature and documented GH deficiency should receive
recombinant GH; other manifestations of hypopituitarism are treated as
needed.

Nursing Management
Pediatric Nurses are not only skilled in nursing, but also in working specifically
with infants, toddlers, children and sometimes teenagers. Pediatric Nurses must
have prerequisite skills and qualifications that include :
 Communication: Written and verbal communication skills are crucial when
working as a Pediatric Nurse. They must read and create written forms for
updating medical staff on the needs of patients. They use strong verbal
communication skills in talking to parents and to understand the symptoms of
the children.
 Interpersonal: Interpersonal skills are crucial, as Pediatric Nurses will often
work with families during a stressful time. They must be able to form trusting
relationships with patients and their families.
 Technology: Advances in medical technology require that Pediatric Nurses
operate medical equipment and interpret results. Nurses must also use
computers to retrieve patient information, update records or fill prescriptions.
 Problem-solving: Parents will often bring their child to a Pediatric Nurse,
who works with other healthcare professionals to evaluate the child’s
symptoms and create a treatment plan. Highly developed problem-solving
skills are crucial in this process.
References
By Andrew Calabria , MD, The Children's Hospital of Philadelphia
Last full review/revision Jul 2020| Content last modified Jul 2020
Howard SR, Dunkel L: The genetic basis of delayed puberty. Neuroendocrinology
106(3):283–291, 2018. doi: 10.1159/000481569
Vigersky RA, McMahon C: The relationship of hemoglobin A1C to time-in-range
in patients with diabetes. Diabetes Technol Ther 21(2):81–85, 2019. doi:
10.1089/dia.2018.0310