From the Guidelines
Adrenal hyperplasia presents with a range of clinical manifestations, including virilization in females, precocious puberty in males, short stature, hypertension, and electrolyte imbalances, resulting from enzymatic defects in cortisol production pathways, most commonly 21-hydroxylase deficiency, as reported in the study by 1.
Clinical Manifestations
The clinical manifestations of adrenal hyperplasia vary depending on the specific type and severity of the condition.
- Virilization in females, including ambiguous genitalia in newborns, clitoromegaly, hirsutism, deepening voice, and menstrual irregularities
- Precocious puberty in males
- Short stature due to premature epiphyseal closure
- Hypertension
- Electrolyte imbalances, such as hyponatremia and hyperkalemia in salt-wasting forms
- Hyperpigmentation
- Fatigue
- Weakness
- Adrenal crisis characterized by vomiting, dehydration, and shock when severely affected
Diagnosis and Treatment
The diagnosis of adrenal hyperplasia involves investigating the underlying cause of the condition, which can be due to genetic causes, autoimmune disorders, or other factors, as discussed in the study by 1.
- Treatment typically involves glucocorticoid replacement (hydrocortisone 10-15 mg/m²/day divided into 2-3 doses) and mineralocorticoid replacement (fludrocortisone 0.05-0.2 mg daily) in salt-wasting forms to suppress excess androgen production and replace deficient hormones, as recommended in the guideline by 1.
Management
The management of adrenal hyperplasia requires a comprehensive approach, including regular monitoring of the patient's condition, adjustment of medication as needed, and education on managing daily medications and situations of minor to moderate concurrent illnesses, as emphasized in the study by 1.
- Patients should wear Medic Alert identification jewelry and carry a steroid/alert card
- Patients should receive sufficient education to manage daily medications and situations of minor to moderate concurrent illnesses
- Supplies to allow self-injection of parenteral hydrocortisone should be provided
- Regular follow-up with a healthcare provider is essential to monitor the patient's condition and adjust treatment as needed.
From the Research
Clinical Manifestations of Adrenal Hyperplasia
The clinical manifestations of adrenal hyperplasia can vary depending on the severity and type of the disorder.
- In the classical form of congenital adrenal hyperplasia (CAH), classically affected female fetuses undergo virilization of the genitalia prenatally and present with genital ambiguity at birth 2.
- In the less severe, late-onset form of CAH, prenatal virilization does not occur, and symptoms may include premature development of pubic hair, advanced bone age, accelerated linear growth velocity, and diminished final height in both males and females 2.
- Severe cystic acne has also been attributed to nonclassical CAH 2.
- Women may present with symptoms of androgen excess, including hirsutism, temporal baldness, and infertility 2.
- Menarche in females may be normal or delayed, and secondary amenorrhea is a frequent occurrence 2.
- Polycystic ovary syndrome may also be seen in these patients 2.
- In males, early beard growth, acne, and growth spurt may prompt the diagnosis of nonclassical CAH 2.
- Although many males appear to be asymptomatic, they may present with oligozoospermia or diminished fertility 2.
Cutaneous Manifestations
Androgen excess in CAH can affect the pilosebaceous unit, causing cutaneous manifestations such as:
Diagnosis and Treatment
Diagnosis of CAH can be challenging, especially in patients with secondary or tertiary adrenal insufficiency 5.
- Treatment of CAH involves replacing glucocorticoids with oral glucocorticoids, suppressing adrenocorticotrophic hormones, and replacing mineralocorticoids to prevent salt wasting 6.
- Current glucocorticoid treatment regimens can not optimally replicate the normal physiological cortisol level, and over-treatment or under-treatment is often reported 6.