Humans are diploid most of life
Denoted 2n; each chromosome pair has one copy from the mother & one from the father
Instructor’s metaphor: genetic variants are like two blueberry-pie recipes (one with, one without a top crust) – both make pie but differ in details
Meiosis in gonads
Specialized “double division” producing haploid n gametes (egg or sperm)
Halves chromosome number so fertilization restores diploid state 2n = 46
Mitosis
Normal body-cell division; makes identical daughter cells for growth & healing
Chromosome counts
Somatic cells: 46 total (i.e.
23 pairs)
Gametes: 23 single chromosomes
Karyotype basics
Pairs 1!\rightarrow!22 = autosomes
Pair 23 = sex chromosomes (XX or XY)
Gamete – haploid sex cell (egg or sperm)
Gonads – organs that make gametes (testes / ovaries)
Genitalia – external structures specialized for gamete transfer
Female-specific
Early cell stage: oocyte
Mature gamete: ovum (egg)
Male-specific
Early cell stage: spermatocyte (primary / secondary)
Mature gamete: spermatozoon (commonly “sperm”)
Semen – fluid medium containing sperm; rich in sugars & other factors that power motility
Letter key from diagram cited in lecture
A Testes – sperm production & testosterone secretion
B Epididymis – coiled tube for sperm storage & maturation
C Ductus (vas) deferens – thick-walled transport & storage duct
D Ampulla of ductus deferens – local widening near bladder
E Prostate – donut-shaped gland encircling prostatic urethra
F Seminal vesicles – posterior bladder; contribute ~60 % of semen volume
G Bulbourethral (Cowper’s) glands – neutralize & lubricate urethra
H Urethra – common channel for urine & semen (prostatic ➜ membranous ➜ spongy)
Support structures
Scrotum separated by midline raphe
Cremaster muscle – elevates or lowers testes to regulate temperature
Spermatic cord – connective-tissue sheath housing vasculature, nerves & ductus deferens
Temperature control critical: testes stay ~2 °C below core for optimal spermatogenesis
All human embryos start with “indifferent” gonads plus two duct systems
Müllerian (paramesonephric) ducts
Wolffian (mesonephric) ducts
Presence of Y-chromosome SRY gene ➜ Testes-determining factor (TDF)
Promotes formation of testes & secretion of testosterone + Müllerian-inhibiting factor (MIF)
MIF causes Müllerian ducts to regress; Wolffian ducts develop into epididymis, ductus deferens, ejaculatory ducts
External genitalia masculinize into penis & scrotum
Absence of TDF ➜ default female pathway
No MIF → Müllerian ducts form uterine tubes & uterus; Wolffian ducts degenerate
External genitalia become clitoris, labia, vagina (separate from urethra because ducts never merge)
Clinical note: Cryptorchidism – undescended testes; may self-correct or require surgery
Spermatogonia (2n stem cells) along basal lamina
Primary spermatocytes ➜ meiosis I ➜ secondary spermatocytes ➜ meiosis II ➜ spermatids (haploid)
Spermiogenesis – morphological maturation of spermatids to spermatozoa
Lose excess cytoplasm
Form acrosomal cap (enzyme packet for egg penetration)
Pack mitochondria in mid-piece (ATP for flagellum)
Develop flagellum (tail)
Process takes ≈ 9 weeks
Sustentacular (Sertoli) cells
Nourish developing gametes, form blood–testis barrier, secrete inhibin
Interstitial (Leydig) cells in connective tissue between tubules
Produce testosterone & other androgens
Epididymis ≈ 7\,\text{m} (23 ft) coiled tube; functions
Sperm storage ~14 days further maturation
Remove damaged sperm
Propel immotile sperm via fluid currents & peristalsis
Ductus deferens
Thick smooth-muscle wall; stores sperm for months
Strong peristaltic contractions during ejaculation move sperm to ejaculatory duct (formed where ductus meets seminal-vesicle duct behind bladder)
Seminal vesicles (~60 % fluid)
Fructose → energy for mitochondria
Prostaglandins → smooth-muscle stimulant
“Fibrinogen-blocker” element – evolutionary remnant of mating plug mechanism
Provide chemical signal that activates flagellar motility
Prostate (~30 % fluid)
Acidic prostatic fluid containing seminalplasmin (antibiotic) & zinc (supports testosterone balance)
Bulbourethral glands (~5 % fluid)
Thick alkaline mucus → neutralizes residual urinary acidity & lubricates glans penis
Semen statistics
Ejaculate volume ≈ 5\,\text{mL}
Sperm count 20$ – $100\times10^6 sperm/mL → \approx (1!\text{–}!5)\times10^8 to 5\times10^8 sperm per ejaculation
Relative contributions: Seminal vesicles 60 %, prostate 30 %, bulbourethral 5 %, sperm 5 %
Hypothalamus releases Gonadotropin-releasing hormone (GnRH) in steady pulses after puberty
Anterior pituitary secretes:
Follicle-stimulating hormone (FSH)
Targets sustentacular cells → promotes spermatogenesis & secretion of androgen-binding protein
Luteinizing hormone (LH)
Targets interstitial (Leydig) cells → stimulates testosterone production
Testosterone effects
Sustains spermatogenesis
Stimulates protein synthesis & muscle growth (anabolic)
Drives secondary male characteristics (facial hair, voice deepening, body mass)
Enhances libido & CNS function
Exerts negative feedback on hypothalamus & pituitary to regulate GnRH, FSH, LH
Inhibin from sustentacular cells provides additional negative feedback on FSH release
Clinical note: Castration eliminates testicular testosterone → no negative feedback → markedly elevated FSH & LH levels
Diploid chromosome number: 2n = 46
Haploid gamete number: n = 23
Spermatogenesis timeline: \approx 9\,\text{weeks} for a cohort to mature
Epididymal storage: \sim 14\,\text{days} before sperm fully motile
Ejaculate: 20$ – $100\times10^6 sperm per mL × 5\,\text{mL} = (1!\text{–}!5)\times10^8 to 5\times10^8 total sperm
Temperature regulation (cremaster & scrotum) connects to fertility; fevers or tight clothing can impair spermatogenesis.
Prostate enlargement (benign prostatic hyperplasia) can constrict prostatic urethra, affecting urination & ejaculation.
Understanding TDF & sex differentiation explains intersex conditions and underlies genetic counseling.
Antibiotic property of prostatic fluid shows evolutionary protection against urinary tract pathogens.
GnRH from hypothalamus ➜ 2 hormones from anterior pituitary (FSH & LH)
FSH → sustentacular cells → nourish & coordinate gamete development
LH → interstitial cells → testosterone
Testosterone + ABP maintain high local androgen concentration → complete spermatogenesis
Negative feedback: testosterone & inhibin dampen GnRH, FSH, LH
Blueberry-pie recipe analogy for allele variants.
“Wolffian sounds masculine” → Wolffian ducts persist in males; Müllerian in females.
Remember SRY → “S ex-determining R egion of Y .”
Seminal vesicle starts the Swimming (Sugar, Stimulants).
Bulbourethral = “buffer urethra” (alkaline mucus).