What are the clinical presentations of Congenital Adrenal Hyperplasia (CAH) in adults?

From the Guidelines

Congenital adrenal hyperplasia (CAH) in adults typically presents with symptoms related to hormone imbalances, particularly involving cortisol, aldosterone, and sex hormones, and may manifest as hypertension and hypokalemia, virilization, or incomplete masculinization. The clinical presentation of CAH in adults can vary depending on the specific enzymatic defect and the severity of the condition. According to the guidelines 1, CAH is a rare cause of secondary hypertension, and its presentation in adults may include signs of virilization or incomplete masculinization.

Some key features of CAH in adults include:

• Hypertension and hypokalemia
• Virilization (11-beta-hydroxylase deficiency)
• Incomplete masculinization in males and primary amenorrhea in females (17-alpha-hydroxylase deficiency)
• Elevated deoxycorticosterone (DOC), 11-deoxycortisol, and androgens in 11-beta-hydroxylase deficiency
• Decreased androgens and estrogen, and elevated deoxycorticosterone and corticosterone in 17-alpha-hydroxylase deficiency

Management of CAH in adults typically involves glucocorticoid replacement to suppress excess androgen production, and mineralocorticoid replacement for salt-wasting forms. The goal of treatment is to balance adequate hormone replacement while minimizing side effects, and regular monitoring of hormone levels, metabolic parameters, and bone density is essential 1. Stress dosing during illness or surgery is also crucial to prevent adrenal crisis.

It is worth noting that the guidelines 1 provide a comprehensive overview of the diagnosis and management of secondary hypertension, including CAH, and emphasize the importance of individualized treatment approaches based on the underlying cause of hypertension.

From the Research

Presentation of Congenital Adrenal Hyperplasia in Adults

• The classical form of congenital adrenal hyperplasia (CAH) is characterized by more-severe symptoms of hyperandrogenism, including virilization of the female genitalia 2.
• The milder nonclassical form presents with postnatal symptoms of hyperandrogenism, such as acne, male-pattern alopecia, hirsutism, irregular menses/amenorrhea, or infertility 2, 3.
• Adults with CAH may experience significant health concerns, including infertility, obesity, short stature, neoplasia, and bone loss, as well as reduced quality of life 4.
• Women with CAH require access to an experienced gynaecologist, specialized pregnancy care, and psychosexual support, while men with CAH are often lost to follow-up and may miss out on surveillance for hypogonadism 5.

Symptoms and Health Concerns

• Common symptoms in adults with CAH include:
  • Acne
  • Male-pattern alopecia
  • Hirsutism
  • Irregular menses/amenorrhea
  • Infertility 2, 3
• Health concerns in adults with CAH may include:
  • Infertility
  • Obesity
  • Short stature
  • Neoplasia
  • Bone loss
  • Reduced quality of life 4, 5
  • Cardiovascular risk factors and catecholamine deficiency 5
  • Hypogonadism in men 5

Treatment and Management

• The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and suppress androgen overproduction 2.
• Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied 2, 6.
• Treatment of CAH, especially in the adult patient, remains controversial given the lack of prospective randomized controlled trials comparing treatment regimens 3.
• Patients benefit from careful individualized therapy with avoidance of Cushingoid side effects and optimization of reproductive, sexual, and bone health 3, 4.