EMBRYOLOGY

OF
GENITAL SYSTEM

By. Rita Rosita

Sub Topics

Introduction
Germ cells
Gonads
Genital Ducts
External Genitalia
Congenital Malformation
Descensus testiculorum

Introduction
Sex differentiation is a complex process
The key to sexual dimorphism is the Y chromosome
SRY (sex- determining region on Y) on its short
arm (Yp11)
Product of SRY gene transcription factor initiating a
cascade of downstream genes that determine the fate of
sexual organs
SRY Protein = testis-determining factor

Sexual phenotype is regulated by gonadal hormone

 Y chromosomes
5% pseudoautosomal genes
95% non psg 80 genes :
Encodes protein all cells
Encodes protein only for testes

X chromosomes
carries hundreds of genes but few, if any, of these have
anything to do directly with sex
Human females inherit two copies of every gene on the X
chromosome, whereas males inherit only one
Are there any differences of gene product between
males and females ? The answer is no X-chromosome
Inactivation (XCI)

SRY

steroidogenesis factor 1 (SF1)

SOX9

Sertoli and Leydig cells

Mullerian inhibiting substance (MIS)

regression (mullerian) ducts.

Leydig cells produce testosterone
5 reductase enzyme
dihydrotestosterone
bind to intracellular receptor protein binds DNA to
regulate transcription

Testosterone receptor complexes mediate virilization of the mesonephric ducts,

dihydrotestosterone receptor complexes modulate differentiation of the male
external genitalia

Primordial Germ Cells

= Gametogenesis :
Conversion of germ cell into male and female
gametes, divided into 4 phases :
1. Origin and migration of the germ cell
2. Increase the number of germ cell by mitosis
3. Reduction in chromosomal number by meiosis
4. Structural and functional maturation of egg and sperm

Primordial Germ Cells,.Contd

Primordial germ cells (PGCs)= precursor of gametes
arise outside the gonads migrate into gonads
during early embryonic development.
Human PGCs recognizable at 24 hours after fertilization
(Large size and High content of ALP).
PGCs formed in the epiblast during 2nd week and that
move to the wall of the yolk sac
During the 4th week PGCs migrate from the yolk sac
toward the developing gonads

Gonads
Determining morphologic characteristics : 7th week
development
Primitive Gonads : a pair of longitudinal ridges
genital/gonadal ridges
Formed by proliferation of the epihelium &
condensation of mesenchymes
PGCs arriving at the gonads : beginning of 5th week
6th week invade epithelium of gonadal ridge
proliferate penetrate mesenchymes primitive
sex cords

Testis
SRY gene testis-determining factor
Primitive sex cord proliferate&penetrate
medullary cords at hillum, break up into rete testis
4th month : rete testis continuous with extremities
Testis cords contain PGCs and sertoli cells
Leydig cells : derived from mesenchymal gonadal
ridge, lie between testis cords produce
testosteron

Ovary
Primitive sex cords dissociate into irregular cell
clusters medullary part dissapear, replaced by
vascular stroma ovarian medulla
7th week ,surface epithelium 2nd generation of
cords = cortical cords
4th month cords split into isolated cell clusters
each surrounding PGCs oogonia

Genital Ducts
Embryo has 2 pairs of genital ducts
Mesonephric (wolffian) ducts
Paramesonephric (mullerian) ducts

Genital Ducts in Female

Paramesonephric tube the main genital ducts :
Uterine tube
Uterine canal

Caudal tips of paramesonephric tube urogenital

sinus vaginal plate 5th month, vaginal
outgrowth & canalized vaginal fornices

Genital Ducts in Male

Clinical Correlates
Uterine and Vaginal Defects

External Genitalia
Indifferent Stage
3rd week :mesenchyme from primitive streak migrate
around cloacal membrane
cloacal folds:
Cranial : genital tubercle
Caudal : urethral folds & anal folds

Genital swellings : each side urethral folds :

Scrotal swellings
Labia majora

At the end of the 6th week distinguish between 2 sexes

External Genitalia
Male
Androgen influences rapid elongation of genital
tubercle phallus
The phallus pull the urethral folds urethral groove
At the end of 3rd month penile urethra
4th month ectodermal cells from the tip of glans penetrate
inward external urethral meatus

Defects in Male Genitalia

Hypospadias
Epispadias
Extrophy of the bladder
Micropenis
Phimosis
Bifid penis/ double penis

External Genetalia in Female

Stimulated by estrogens
Genital tubercle elongate slightlyclitoris
Urethral folds do not fuse labia minora
Genital swellings enlarge labia majora
Urogenital groove vestibulum

Defects in Sex Differentiation

Klinefelter syndromes : 47, XXY
XY female gonadal dysgenesis ( Swyer Syndrome)
result from mutasi SRY gene
Turner syndromes, 45,X
Hermaphrodites
Pseudohermaphrodites
Androgen insensitivity syndrome/testicular
feminization

Descencus Testiculorum
Begin at the end of the 2nd month 12 weeks reach
inguinal region reach the scrotum by 33 weeks
Influenced by hormones :androgen, MIS
Tunica vaginalis : evaginasi peritoneum
Visceral layer
Parietal layer

Defects :
Congenital inguinal hernia
Hydrocele :
Criptorchidism

KELAINAN TESTIS
1. Agenesis testis :

scrotum di mana testis (-) juga mengalami atrophy

2. Ectopic testis :
testis tidak pada jalurnya, yaitu keluar dari jalurnya

setelah keluar dari anulus inguinalis externus

posisi :
superficial inguinal (terbanyak)

perineal
femoral
penile
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3. Cryptorchismus :
secara embryologis testis berada intraperitoneal terjadi

migrasi "trans abdominal", di mana testis turun sampai

didekat anulus inguinalis internus
kemudian terjadi "migrasi trans inguinal" di mana testis dan
epididimis turun membawa serta prosesus vaginalis
insiden : Bayi prematur
Bayi aterm

: 33 %
: 3%

Jadi cryptorchismus : testis yang terhenti dalam perjalanannya,

sebelum mencapai scrotum

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