Adrenal Disorders in Children Cushing Syndrome and Congenital Adrenal Hyperplasia Pediatric Guide — Paediatrics
Paediatrics

Adrenal Disorders in Children Cushing Syndrome and Congenital Adrenal Hyperplasia Pediatric Guide

3 min read 20 MCQs

Here’s a concise but complete pediatric-focused reference on adrenal disorders in children: Cushing syndrome and Congenital Adrenal Hyperplasia (CAH).

🧠 ADRENAL DISORDERS IN CHILDREN (PAEDIATRICS)

1. CUSHING SYNDROME IN CHILDREN

🔹 Definition

A condition caused by chronic excess glucocorticoids (cortisol) from endogenous overproduction or exogenous steroid use.

🔹 Etiology

1. Exogenous (most common)

  • Prolonged steroid therapy (oral, inhaled, topical)

2. Endogenous

  • ACTH-dependent

Pituitary adenoma → Cushing disease*

  • ACTH-independent

* Adrenal adenoma/carcinoma

* Macronodular adrenal hyperplasia

🔹 Pathophysiology

  • Excess cortisol →

* Protein catabolism → muscle wasting

* Gluconeogenesis → hyperglycemia

* Fat redistribution → truncal obesity

* Suppressed immunity

* Growth hormone suppression → growth failure (key in children)

🔹 Clinical Features (Important pediatric clue = growth failure + weight gain)

  • Central obesity (moon face, buffalo hump)
  • Short stature / poor linear growth
  • Hypertension
  • Purple striae
  • Acne, hirsutism
  • Delayed puberty
  • Osteopenia
  • Mood changes

🔹 Investigations

Screening tests

  • 24-hour urinary free cortisol ↑
  • Late-night salivary cortisol ↑
  • Low-dose dexamethasone suppression test (no suppression)

Differentiation

  • Plasma ACTH:

* ↑ → ACTH-dependent

* ↓ → adrenal cause

  • MRI pituitary / CT adrenal

🔹 Differential Diagnosis

  • Simple obesity (no growth failure)
  • Hypothyroidism
  • Pseudo-Cushing states (depression, stress)

🔹 Management

1. Treat cause

  • Pituitary tumor → transsphenoidal surgery
  • Adrenal tumor → adrenalectomy
  • Stop/reduce exogenous steroids

2. Medical therapy (if needed)

  • Ketoconazole
  • Metyrapone
  • Mitotane (rare)

🔹 Complications

  • Growth retardation (may be permanent)
  • Hypertension
  • Diabetes mellitus
  • Osteoporosis

🔹 Key Pediatric Point

👉 Weight gain with decreased height velocity = red flag

2. CONGENITAL ADRENAL HYPERPLASIA (CAH)

🔹 Definition

A group of autosomal recessive disorders due to enzyme defects in cortisol synthesis → ↑ ACTH → adrenal hyperplasia + excess androgen

🔹 Types (Most important)

1. 21-hydroxylase deficiency (≈95%)

  • Classic (salt-wasting / simple virilizing)
  • Non-classic (late onset)

2. Others (rare)

  • 11β-hydroxylase deficiency
  • 17α-hydroxylase deficiency

🔹 Pathophysiology (21-hydroxylase deficiency)

  • ↓ Cortisol ± ↓ aldosterone
  • ↑ ACTH → adrenal hyperplasia
  • ↑ androgen production → virilization

🔹 Clinical Features

A. Classic Salt-Wasting Type (life-threatening)

  • Vomiting, dehydration
  • Hyponatremia, hyperkalemia
  • Hypotension, shock
  • Failure to thrive

B. Virilization

  • Females: ambiguous genitalia (at birth)
  • Males: normal at birth → early puberty

C. Non-classic

  • Early pubarche
  • Acne
  • Hirsutism
  • Menstrual irregularities

🔹 Investigations

  • 17-hydroxyprogesterone ↑ (key test)
  • Serum electrolytes:

* ↓ Na⁺, ↑ K⁺ (salt-wasting)

  • ACTH stimulation test
  • Genetic testing (confirmatory)

🔹 Differential Diagnosis

  • Androgen-secreting tumors
  • Polycystic ovarian syndrome (in adolescents)
  • Other disorders of sexual development (DSD)

🔹 Management

1. Acute salt-wasting crisis

  • IV fluids (normal saline)
  • IV hydrocortisone
  • Correct electrolytes

2. Long-term therapy

Glucocorticoids

  • Hydrocortisone (drug of choice in children)

* Dose: ~10–15 mg/m²/day (divided doses)

Mechanism: suppress ACTH → ↓ androgen excess

Mineralocorticoids (if salt-wasting)

  • Fludrocortisone

* Dose: ~0.05–0.2 mg/day

Additional care

  • Salt supplementation (infants)
  • Growth monitoring
  • Surgical correction (ambiguous genitalia in females)
  • Psychological support

🔹 Drug Details

Hydrocortisone

  • MOA: replaces cortisol, suppresses ACTH
  • Adverse effects: growth suppression (high doses), Cushingoid features
  • Monitoring: growth, weight, BP, 17-OHP levels

Fludrocortisone

  • MOA: aldosterone replacement → sodium retention
  • Adverse effects: hypertension, edema
  • Monitoring: BP, electrolytes

🔹 Complications

  • Adrenal crisis
  • Short stature
  • Precocious puberty
  • Fertility issues (later)

🔹 Newborn Screening

  • Mandatory in many countries → early detection via 17-OHP

🔹 Key Pediatric Points

  • Ambiguous genitalia in female newborn = think CAH
  • Vomiting + shock + electrolyte imbalance = adrenal crisis

⚖️ QUICK COMPARISON

| Feature | Cushing Syndrome | CAH |

| --------- | ----------------------- | ------------------------ |

| Hormone | ↑ Cortisol | ↓ Cortisol, ↑ Androgen |

| Growth | ↓ Height velocity | Early growth, then short |

| Key sign | Obesity + short height | Ambiguous genitalia |

| Emergency | Rare | Adrenal crisis common |

| Treatment | Surgery / stop steroids | Lifelong steroids |

If you want, I can also give:

  • MCQs for exams
  • Case-based scenarios
  • Flowcharts for quick revision

Interactive MCQ Quiz

MCQ Exam Mode

20 Questions
Question 1 of 20
Answer all questions then submit.

Frequently Asked Questions

Adrenal disorders in children are conditions affecting the adrenal glands leading to abnormal hormone production such as cortisol and androgens. The most important pediatric conditions include Cushing syndrome and congenital adrenal hyperplasia.
Cushing syndrome in children is a condition caused by prolonged exposure to excess cortisol, either due to steroid therapy or endogenous overproduction from adrenal or pituitary causes.
The most common cause is exogenous steroid use, such as prolonged treatment with corticosteroids for chronic illnesses.
The hallmark sign is weight gain with decreased height velocity, which helps differentiate it from simple obesity.
CAH is an inherited autosomal recessive disorder caused by enzyme defects in cortisol synthesis, most commonly 21-hydroxylase deficiency, leading to excess androgen production.
The most common type is 21-hydroxylase deficiency, accounting for about 95 percent of cases.
Symptoms include ambiguous genitalia in females, vomiting, dehydration, poor feeding, and electrolyte imbalance such as hyponatremia and hyperkalemia.
Adrenal crisis is a life-threatening emergency characterized by vomiting, dehydration, hypotension, hyponatremia, and hyperkalemia, requiring immediate treatment with IV fluids and hydrocortisone.
Diagnosis involves screening tests such as 24-hour urinary cortisol, late-night salivary cortisol, and dexamethasone suppression test followed by ACTH measurement and imaging studies.
CAH is diagnosed by elevated 17-hydroxyprogesterone levels, electrolyte abnormalities, ACTH stimulation test, and confirmed by genetic testing.
Treatment depends on the cause and includes stopping exogenous steroids, surgical removal of tumors, and medical therapy to control cortisol production if needed.
Treatment includes lifelong glucocorticoid therapy such as hydrocortisone and mineralocorticoid replacement with fludrocortisone in salt-wasting forms.
Hydrocortisone is preferred because it has a shorter duration of action and less impact on growth compared to other glucocorticoids.
Complications include adrenal crisis, short stature, early puberty, infertility, and severe electrolyte imbalance.
Newborn screening helps early detection by measuring 17-hydroxyprogesterone levels, allowing timely treatment and prevention of adrenal crisis.
Cushing syndrome presents with weight gain and reduced height velocity, while simple obesity has normal or increased height growth.
Virilization occurs due to excess androgen production from the adrenal glands as a result of enzyme deficiency.
Monitoring includes growth parameters, blood pressure, electrolyte levels, and hormone levels such as 17-hydroxyprogesterone.
With early diagnosis and proper lifelong treatment, most children with CAH can lead a normal and healthy life.
Salt-wasting CAH involves both cortisol and aldosterone deficiency leading to electrolyte imbalance, while simple virilizing CAH mainly causes androgen excess without severe electrolyte disturbances.
Related Topics
adrenal disorders in children cushing syndrome in children congenital adrenal hyperplasia CAH pediatrics pediatric endocrine disorders adrenal gland disorders children cortisol excess children 21 hydroxylase deficiency adrenal crisis children pediatric cushing disease CAH symptoms children adrenal insufficiency pediatrics pediatric hormone disorders endocrine diseases children hydrocortisone treatment CAH