GENITAL DEVELOPMENT
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
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 2
nd
week and
that move to the wall of the yolk sac
During the 4
th
week PGCs migrate from the yolk
sac toward the developing gonads
Sex Determination
Chromosomal and genetic sex is determined
at fertilization
It depends upon whether an X-bearing sperm
or a Y-bearing sperm fertilizes the X-bearing
ovum
The type of gonads develop is determined by
the sex chromosome complex of the embryo
(XX or XY)
Gonads
Determining morphologic characteristics : 7
th
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 5
th
week 6
th
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
4
th
month : rete estis 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
7
th
week ,surface epithelium 2
nd
generation
of cords = cortical cords
4
th
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
Development of Genital Ducts
The mesonephric ducts (wolffian ducts) play
an important role in the development of the
male reproductive system
The paramesonephric ducts (mullerian ducts)
have a leading role in the development of the
female reproductive system
Till the end of sixth week, the genital system is
in an indifferent state, when both pairs of
genital ducts are present
Genital Ducts in Female
Paramesonephric tube the main genital
ducts :
Uterine tube
Uterine canal
Caudal tips of paramesonephric tube
urogenital sinus vaginal plate 5
th
month, vaginal outgrowth & canalized
vaginal fornices
Genital Ducts in Male
Clinical Correlates
Uterine and Vaginal Defects
External Genitalia
Indifferent Stage
3
rd
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 6
th
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 3
rd
month penile urethra
4
th
month ectodermal cells from the tip of glans
penetrate inward external urethral meatus
In female embryo:
The genital tubercle
enlarges slightly to form
the clitoris.
The genital swellings
form labia majora.
The urethral (genital)
folds form labia minora.
The definitive urogenital
sinus forms the vestibule
of the vagina.
Development of external genitalia
A-B: 4th-7th week
ndifferent stage
C, D: 9th week
E, F: 11th week
G, H: 12th week
Defects in Male Genitalia
Hypospadias
Epispadias
Extrophy of the bladder
Micropenis
Bifid penis/ double penis
Agenesis of external genitalia
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
Congenital anomalies of hymen
Descencus Testiculorum
Begin at the end of the 8
th
week 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
Disorders of sex development (DSDs).
is a group of conditions where there is a
discrepancy between the external genitals and
the internal genitals (the testes and ovaries).
Catagories :
46, XX Intersex
46, XY Intersex
True Gonadal Intersex
Complex or Undetermined Intersex
46, XX Intersex.
The person has the chromosomes of a woman,
the ovaries of a woman, but external (outside)
genitals that appear male.
a female fetus having been exposed to excess
male hormones before birth (congenital adrenal
hyperplasia)
The labia fuse, and the clitoris penis.
Normal uterus and Fallopian tubes.
Also called 46, XX with virilization= female
pseudohermaphroditism.
46, XY Intersex
chromosomes of a man, but the external
genitals are incompletely formed, ambiguous,
or clearly female. Internally, testes may be
normal, malformed, or absent.
male pseudohermaphroditism
possible causes:
Gonadal dysgenesis
Problems with testosterone formation
Androgen insensitivity syndrome
True Gonadal Intersex.
have both ovarian and testicular tissue.
This may be in the same gonad (an ovotestis), or
the person might have one ovary and one testis.
may have XX chromosomes, XY chromosomes
The external genitals may be ambiguous or may
appear to be female or male.
called true hermaphroditism.
the underlying cause is unknown, although in
some animal studies it has been linked to
exposure to common agricultural pesticides.
Complex or Undetermined Intersex
Disorders of Sexual Development.
Many chromosome configurations other than
simple 46, XX or 46, XY
45, XO, and 47, XXY, 47, XXX
