Endocrine Dysfunction in Children: Detailed Notes

Endocrine disorders in children can arise from various complex causes that significantly impact their growth, development, and overall health. These disorders can originate from:

• Organic defects in hormone production or function: This refers to conditions where there is a physical issue, such as a malfunctioning gland, that affects the body's hormone levels.

• Idiopathic causes: Often, the origin of dysfunction is unknown, making diagnosis and treatment challenging. These conditions may present without any identifiable reasons for the symptoms.

• Single or multiple hormone involvement: Disorders can affect one specific hormone, such as insulin, or multiple hormones simultaneously, complicating treatment strategies.

Clinical manifestations of endocrine disorders can vary widely among patients, influenced by factors such as:

• The specific hormone involved: Different hormones affect various bodily functions and systems.

• The age of the patient: The impact of hormonal imbalances can differ significantly between infants, children, and adolescents.

Endocrine disorders can lead to critical health issues including:,

• Overproduction of hormones (hyperfunction): This can result in conditions such as gigantism with excess growth hormone or hyperthyroidism.

• Deficiencies in hormone levels (hypofunction): Hormone shortages can lead to issues such as growth retardation or adrenal insufficiency.

Disorders of Pituitary Function

Hypopituitarism

• Definition: Hypopituitarism is the condition characterized by deficient secretion of one or more anterior pituitary hormones, affecting various endocrine functions throughout the body.

• Consequences: The consequences of this condition can be severe and may include:

  • Gonadotropin deficiency: This affects sexual maturation, impacting the onset of puberty and fertility.

  • Growth hormone (GH) deficiency: This leads to inhibited growth, necessitating early intervention for optimal outcomes.

  • Thyroid-stimulating hormone (TSH) deficiency: Results in hypothyroidism, manifesting as fatigue, weight gain, and cognitive decline.

  • Adrenocorticotropic hormone (ACTH) deficiency: This deficiency can lead to adrenal insufficiency, causing fatigue, low blood pressure, and increased susceptibility to stress.

• inhibits somatic growth and development of secondary sex characteristics

Diagnostic Evaluation of Growth Hormone Deficiency

The diagnostic evaluation for GH deficiency involves thorough assessments, which include:

• Family history of growth patterns: Identifying genetic predispositions to growth issues.

• Comprehensive physical examination: To assess growth milestones and physical health.

• Psychosocial evaluations: These gauge emotional well-being, recognizing that growth disorders can impact mental health.

• Radiographic surveys: Bone age assessments provide further insights into growth potential and developmental progress.

• Endocrine studies: Blood tests to measure hormone levels are crucial for diagnosis.

  • definitive diagnosis of GH deficiency is based on absent or subnormal reserves of pituitary GH

Therapeutic Management of Growth Hormone Deficiency

Management strategies focus on correcting underlying issues and may include:

• GH replacement therapy: This treatment has shown effectiveness in about 80% of cases, significantly improving growth outcomes.

  • Somatropin SC injection given 6 to 7 days a week,

  • optimum results is often achieved when GH is administered at bedtime. pituitary release GH occurs during the 1st 45-90 min after the onset of sleep

• Monitoring growth rates: Treatment may cease if growth rates drop below 1 inch per year at certain age milestones:

  • Girls at age 14.

  • Boys at age 16.

  • Child’s height and weight are measured and marked on a growth chart as part of every visit to the provider. (Bone age usually matches height age)

Pituitary Hyperfunction

• excess GH before closure of epiphyseal shafts results in overgrowth of long bones

  • Height exceeding 8 feet: Due to long bone overgrowth, such extreme tallness can result in various health complications.

  • Proportional increase in muscle mass

  • weight is generally in proportion to height

Acromegaly

Acromegaly occurs when excess GH is present after the closure of growth plates. Characterized by:

• Facial feature overgrowth: This includes enlarged head and facial structures, such as lips, tongue, and jaw, leading to distinct facial changes.

• Separation and malocclusion of teeth can lead to dental and orthodontic issues.

Diagnostic Evaluation of Pituitary Hyperfunction

Assessment for pituitary hyperfunction includes:

• Patient history: A detailed account of growth patterns and physical symptoms is essential.

• Evidence of elevated GH levels: increased levels of GH and IGF-1

• Radiographic tests: Imaging can help to identify any tumors present on the pituitary gland.

• endocrine studies: to confirm an excess of other hormones, specifically thyroid, cortisol, and sex hormones

Therapeutic Management of Pituitary Hyperfunction

Treatment modalities may involve:

• Surgical removal of tumors: Necessary if a tumor is identified.

• Radiation therapy: To target and reduce the tumor size if surgery is not an option.

• Hormone replacement: Post-surgery, patients may need hormone replacements like thyroid extracts, cortisone, and sex hormones to maintain balanced hormone levels.

  • somatostatin receptor ligands, dopamine agonists, or GH receptor antagonists

• early identification of kids with excessive growth rates

• early treatment for improved outcomes

• observation for signs of tumors

• emotional support

• addressing body image concerns

Precocious Puberty

Definition

• defined as sexual developments before age 9 yrs in boys or before age 8 yrs in girls traditionally

  • White girls younger than 7.

  • African-American girls younger than 6.

• disorder of the Gonads, adrenal glands, or the hypothalamic-pituitary gonadal axis

Types of Precocious Puberty

• Central precocious puberty (CPP): The most common type, characterized by early gonadal maturation, leading to early onset of puberty.

• Peripheral precocious puberty: This is marked by premature breast development, pubic and axillary hair, and the onset of menses without the normal hormonal signals.

Therapeutic Management of Precocious Puberty

Management focuses on identifying underlying causes and often involves:

• Use of leuprolide (Lupron): This medication is effective in slowing puberty until the age-appropriate developmental milestones can be reached. monthly injection

  • Treatment is discontinued at an age when normal pubertal changes are expected to resume.

• Provide psychological support: Addressing body image and emotional concerns is essential to support affected children's mental health.

Juvenile Hypothyroidism

Causes

• congenital

  • Congenital hypoplastic thyroid gland

    • low levels of circulating THs and raised levels of TSH at birth

• Acquired

  • Partial or complete thyroidectomy for cancer or thyrotoxicosis

  • After radiation therapy for Hodgkin lymphoma or other malignancies

  • may have decelerated growth from chronic deprivation of TH, or thyomegaly (enlargement of the thyroid)

Clinical Manifestations

Symptoms of juvenile hypothyroidism frequently include:

• mental decline, constipation, sleepiness

• Myxedema: Symptoms such as dry skin, sparse hair, and facial puffiness are common, signaling significant hormone deficiency.

Therapeutic Management

The primary treatment is:

• Administering oral thyroid hormone replacement (Levothyroxine): Starting with increasing doses over a 4-8 week period is crucial to avoid symptoms of hyperthyroidism occurring from overtreatment.

  • compliance with medication regimen: crucial

  • children to take responsibility for their medication regimen as soon as they are able.

Congenital Adrenal Hyperplasia (CAH)

• is a family of inherited disorders caused by decreased enzyme activity required for cortisol production in the adrenal cortex and is the most common cause of primary adrenal insufficiency in children.

• Characterized by: The overproduction of adrenal androgens, which can lead to:

  • Virilization in female fetuses: This can result in ambiguous genitalia, complicating gender assignment at birth.

  • Varying degrees of ambiguous genitalia

  • Risk of salt-wasting crises: This can be life-threatening and involves severe electrolyte imbalances.

Therapeutic Management of CAH

Management strategies include:

• Administering glucocorticoids: To manage hormone levels and reduce androgen excess.

• Anatomical assignment based on genotype: Important for proper long-term management and support.

• Possible reconstructive surgery: Considered in some cases to address anatomical ambiguities.

• These individuals aren’t fertile

Diabetes Mellitus in Children

Overview

Diabetes Mellitus is the most common endocrine disorder in childhood,

• characterized by hyperglycemia and insulin resistance

• with a deficiency of insulin, glucose is unable to enter the cell and remains in the blood, causing hyperglycemia

• when the serum glucose exceeds the renal threshold, glucose spills into urine (glycosuria)

• cells break down protein for conversion to glucose by the liver (glucogenesis)

  • Type 1 Diabetes Mellitus: Characterized by absolute insulin deficiency due to beta-cell destruction, predominantly autoimmune in nature.

    • presents between 4 and 6 yrs and then at 10 to 14 yrs

  • Type 2 Diabetes Mellitus: Generally arises due to insulin resistance, often associated with obesity and a sedentary lifestyle.

    • presents between 15 to 19 yrs

Pathophysiology

In Type 1 Diabetes:

• characterized by destruction of beta cells, usually leading to absolute insulin deficiency

• onset typically in childhood and adolescence, but can occur at any age

• Most childhood cases of DM are type 1

• more prominent in white ppl

  • Lack of insulin: This prevents glucose from entering the cells, leading to elevated blood sugar levels (hyperglycemia).

  • Ketogenesis occurs when glucose is unavailable, it produces ketoacidosis, a potentially grave condition requiring urgent medical intervention.

Type 2 DM

• arises because of insulin resistance

• onset usually after age 45

• Native Americans, Hispanics, AA kids: at increased risk for type 2 DM

• Affected ppl may require insulin injections

Diabetic Ketoacidosis

• When glucose is unavailable for cellular metabolism, the body breaks down alternative sources of energy; ketones are released, and excess ketones are eliminated in urine (ketonuria) or by the lungs (acetone breath)

• Ketones in the blood are strong acids that lower serum pH and produce ketoacidosis

• pediatric emergency

• results form progressive deterioration with dehydration, electrolyte imbalance, acidosis, coma; may cause death

• Therapy: should be instituted in an intensive care setting

Complications of Diabetes Mellitus

Long-term complications can include:

• Microvascular issues: Such as nephropathy, retinopathy, and neuropathy, may arise from prolonged high blood sugar levels.

• Vascular changes: These can occur as early as 2.5-3 years post-diagnosis if diabetes is poorly controlled.

  • can be delayed by 20 yrs in controlled

Therapeutic Management of Diabetes Mellitus

Management focuses on ensuring effective glycemic control and includes:

• Insulin therapy:

  • Rapid-acting insulin (Novolog) reaches the blood within 15 min after injection. The insulin peaks 30-90 min later and may last as long as 5 h

  • short-acting (regular) insulin: (novolinR) usually reaches blood within 30 min after injection. the insulin peaks 2-4 h later and stays in the blood for about 4-8 h.

  • Intermediate acting insulin (Novolin N) reaches the blood 2-6 h after injection. The insulin peaks 4-14 h later and stay in the blood for about 14-20 h

  • Long-acting insulin (Lantus) takes 6-14 h to start working. it has no peak or a very small peak 10-16 h after injection. The insulin stays in the blood between 20 to 24 h

  • some insulins come mixed together (Novolin 70/30) regular and NPH

• dosage

  • twice daily insulin regimen of a combination of rapid-acting and NPH before breakfast and before the evening meal.

  • some kids, better morning glucose control is achieved by a later (bedtime) injection of NPH

  • regular insulin is best administered at least 30 min before meals

• Methods of administration

  • daily insulin is administered SC by daily twice-daily injection

  • insulin pump

• monitoring

  • BG-goal, near normal levels between 80-120 mg/dl

  • glycosylated hemoglobin goal of <7.5

  • urine testing todetect ketonuria

    • Recommended urine be tested for ketones every 3 h during an illness or whenever BG levels is greater than 240 mg/dl when illness is not present

• Therapeutic management DM

  • Nutrition

    • They need sufficient calories to balance daily expenditure for energy and to satisfy the requirement for growth and development

    • meals and snacks must be eaten according to peak insulin action, and the total number of cal and proportions of basic nutrients must be consistent from day to day.

    • fat is reduced to 30% or less of total cal requirement, and an increase in fiber

  • exercise

    • exercise lowers BG levels, depending on the intensity and duration of the activity

    • if activity is unplanned and results in decreased BG can be compensated for by giving an extra snack beforethe activity

  • hypoglycemia

    • episodes most commonly occur before meals or when the insulin effect is peaking

    • morning hypoglycemia

  • illness management

    • goal is to restore euglycemia, treat urinary ketonemia and maintain hydration

    • BG should be monitored every 3 hrs

    • insulin should never be omitted during an illness, although the dosage requirement may increase, decrease, or remain unchanged depending on the illness

    • if child vomits more than once, if bg levels remain above 240 mg/dl, or urinary ketones remain high, notify HCP

    • Fluids are most important to prevent dehydration and flush out ketones

  • Therapeutic management of DKA

    • Management consists of rapid assessment, adequate insulin to reduce the elevated bg level, fluids to overcome dehydration, and electrolyte replacement (especially potassium)

      • potassium must never be given until serum k+ levels is known to be normal or low and urinary voiding is observed. all maintenance IV fluids should include 30 to 40 mEq/L of K+.

    • Initial rehydration attempts should be 10 to 20 ml/kg of isotonic saline (NS or LR) given IV bolus.

• Education:

  • medical identification

  • Nature of diabetes

  • meal planning: adequate intake for age, consistent menus, complex carbs, and consistent eating times

  • traveling

  • insulin

    • injection procedure

    • continued sc insulin infusion

    • dosage needs change continuously during growth and development

    • doesn't need to be refrigerated

  • glucose monitoring

• recognition and treatment of hypoglycemia and hyperglycemia

  • signs of hypoglycemia: adrenergic, including sweating and trembling, which help raise bg

• hygiene

• exercise

• record keeping

• self management

• child or adolescent and family support