Diseases and disorders associated with testosterone, based on both deficiency and excess, in males and females:
🧬 Testosterone-Related Disorders
Testosterone-related conditions arise from:
- Hormonal imbalances (too low or too high)
- Genetic disorders
- Tumors or enzyme defects
- Therapeutic use or abuse (e.g., anabolic steroids)
🩺 1. 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
🧬 2. 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)
⚠️ 3. 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)
🚺 4. 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)
💊 5. Conditions Related to Testosterone Therapy
- 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 Role | 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 |
| CAH | ↑ High (prenatal) | Masculinization in females |
| Klinefelter syndrome (XXY) | ↓ Low | Infertility, gynecomastia |