Male Sex Physiology

Relevant Physiology

Etiology + Classification

• Chromosomal disorder - Allosomal X
  • 47, XXYY
  • 48, XXXY
  • 49, XXXXY
  • Mosaicism : post-fertilization non-disjunction
• More X = More severe
• Mosaicism = Less severe

Presentation

Signs and Symptoms

Classic Disease Definition

1. Gynocomastia (not corrected by Testosterone)
2. Azoospermia but no hypoplasia of leywig cells (testosterone normal)
3. Elevated FSH

Classic Presentation

• Not every present with these findings
• Physical Appearance
• Hypogonadism (primary)
  • Infertility - MOST COMMON CAUSE OF MALE INFERTILITY
  • Low libido/Arousal
• NDD/IDD (maybe)

Investigation

DDx + Things to rule out

Tests

Management

Appearance

Infertility

Clinical Pearl

• This is an extremely under-diagnosed condition
• 1 in 600 man
• Most common cause of men infertility