Congenital Adrenal Hyperplasia (CAH) in women

Congenital Adrenal Hyperplasia (CAH) in women can have a range of physical, hormonal, and psychological effects, depending on the severity and type of CAH.

🔬 Pathophysiology (in Women)

  • Due to enzyme deficiencies (most commonly 21-hydroxylase), the adrenal glands produce excess androgens (male hormones) and insufficient levels of cortisol and sometimes aldosterone.

  • This hormonal imbalance particularly affects development of sexual characteristics, reproductive health, and psychosocial identity.

🧬 Types and Effects in Women

1. Classic CAH (21-Hydroxylase Deficiency)

  • Detected at birth or shortly after due to obvious symptoms.

  • Salt-wasting form may be life-threatening if untreated.

  • Key Features:

    • Ambiguous genitalia (enlarged clitoris, fused labia)

    • Normal internal reproductive organs (ovaries, uterus)

    • Risk of adrenal crisis (vomiting, dehydration, shock)

    • Short stature due to early bone growth plate closure

2. Non-Classic CAH (Late-Onset)

  • Milder and often diagnosed in adolescence or adulthood.

  • Key Features:

    • Hirsutism (excess facial/body hair)

    • Acne

    • Irregular or absent menstrual periods

    • Infertility

    • Polycystic ovarian appearance (sometimes misdiagnosed as PCOS)

    • Androgenic alopecia (male-pattern hair loss)

💉 Diagnosis in Females

  • 17-hydroxyprogesterone levels (elevated)

  • Androgen levels (testosterone, DHEA-S)

  • ACTH stimulation test

  • Pelvic ultrasound (to check reproductive anatomy)

  • Genetic testing (CYP21A2 mutation)

💊 Management and Treatment in Women

  1. Hormone Replacement Therapy

    • Glucocorticoids (e.g., hydrocortisone, dexamethasone) to suppress adrenal androgens

    • Mineralocorticoids (fludrocortisone) if aldosterone is deficient

    • Adjustments during stress, illness, or surgery (stress dosing)

  2. Reconstructive Surgery

    • For classic CAH, feminizing genital surgery may be offered in infancy or delayed until the individual can consent

  3. Fertility and Menstrual Regulation

    • Hormonal treatment often restores menstrual cycles

    • Ovulation-inducing medications (e.g., clomiphene) may be used for infertility

  4. Psychological Support

    • Gender identity and body image concerns are common

    • Multidisciplinary support: endocrinology, gynecology, psychiatry/psychology

❤️ Fertility and Sexual Health

  • Classic CAH: Fertility may be reduced but pregnancy is often possible with proper management.

  • Non-classic CAH: Fertility is usually preserved, though androgen excess can cause ovulatory issues.

  • Sexual health may be affected by:

    • Genital surgery outcomes

    • Vaginal stenosis (narrowing)

    • Libido changes from androgen imbalance

    • Psychological impact