Diseases and disorders associated with testosterone, based on both deficiency and excess, in males and females

Hypogonadism (Low Testosterone)

Occurs when the body doesn’t produce enough testosterone.

Types:

  • Primary hypogonadism (testicular failure)
  • Secondary hypogonadism (pituitary or hypothalamic dysfunction)

Causes:

  • Klinefelter syndrome (XXY)
  • Testicular injury, infection, or cancer
  • Pituitary tumors, trauma, or surgery
  • Aging, obesity, chronic illness

Symptoms (in males):

  • Low libido
  • Erectile dysfunction
  • Fatigue, depression
  • Reduced muscle mass
  • Infertility
  • Decreased facial/body hair

Testosterone Excess in Males

Usually due to:

  • Testosterone therapy overdose
  • Anabolic steroid abuse
  • Androgen-producing tumors (adrenal or testicular)

Effects:

  • Aggression, mood swings (“roid rage”)
  • Acne, oily skin
  • Male pattern baldness
  • Testicular atrophy
  • Infertility (due to feedback inhibition of LH/FSH)
  • Gynecomastia (via estrogen conversion)

Androgen Insensitivity Syndrome (AIS)

Cause:

  • Genetic mutation in the androgen receptor
  • Individuals with XY chromosomes are partially or completely insensitive to testosterone

Results:

  • May present with female external genitalia despite XY chromosomes
  • No uterus, no menstruation
  • Undescended testes (in complete AIS)

Testosterone Excess in Females (Hyperandrogenism)

Causes:

  • Polycystic ovary syndrome (PCOS) – most common
  • Congenital adrenal hyperplasia (CAH)
  • Androgen-secreting tumors
  • Cushing’s syndrome

Symptoms:

  • Hirsutism (facial/body hair)
  • Acne
  • Male pattern hair loss
  • Irregular or absent periods
  • Infertility
  • Deepened voice (in severe cases)

Conditions Related to Testosterone TherapyAnabolic Effects

Testosterone Replacement Therapy (TRT) may be used in hypogonadism, but can lead to:

  • Polycythemia (high RBC count)
  • Sleep apnea worsening
  • Prostate effects (concerns over benign hypertrophy or cancer risk)
  • Suppressed fertility

Summary Table

Condition

Testosterone Rolet

Key Symptoms

Male hypogonadism

↓ Low

Fatigue, ED, low libido

AIS (XY individuals)

Normal/↑ but unresponsive

Female phenotype, infertility

Steroid abuse / therapy

↑ High

Acne, rage, infertility

PCOS (females)

↑ High

Hirsutism, acne, cycle issues

CAHAnabolic

↑ High (prenatal)

Masculinization in females

Klinefelter syndrome (XXY)

↓ Low

Infertility, gynecomastia