Abnormalities of

development of female and

male genital tract
 Normal sexual
development of
males and
females
 Abnormalities of
sexual
development
 Objectives:
 to describe the normal embryology of
male and female sexual differentiation
 to explain the major characteristics of
those with intersex problems
 to explain the major characteristics of
the common developmental
abnormalities of both female and male
genital tracts
Sexual Differentiation
Normal sexual
development
 Requires
coordinate
interplay
 Correct
chromosome
complement and
composition
 Proper migration
of germ cells from
yolk sac to
urogenital ridge
for initial induction
Normal sexual
development
 Requires
coordinate
interplay
 Appropriate
hormone
production by
gonad
 Proper response
by target organs
to secreted
hormones
Normal sexual
development
 Y chromosome of males leads to
formation of testis
 SRY antigens of primitive gonad initiates
determination into testis
 Only Genital ridge contains receptors
for SRY antigens
 SRY antigen binding with genital ridge
receptors: responsible for differentiation
into testis
Normal sexual
development
 Medullary cords of
primitive gonad
differentiation into
seminiferous tubules
 Sertoli cells of
seminiferous tubules
develop and begin
producing MIS causing
regression of
mullerian ducts
 Differentiation of
interstitial cells into
Leydig cells which
produce testosterone
Normal sexual
development
 Testosterone stimulates
development of
wolffian duct system to
form vas deferens,
seminal vesicles and
epididymis
 Testosterone reduced
to dihydrotestosterone
which regulates
development of
external genitalia in
males
Normal sexual
development
 Absence of Y chromosome and SRY
antigens
 Primitive gonad differentiates into ovary
 Female development of mullerian duct system
and external genitalia: an autonomous process
 Normal female not exposed to MIS
 Mullerian ducts form fallopian tubes, uterus, cervix
and upper portion of vagina
 Absence of testosterone causes regression of
wolffian ducts
Normal sexual
development
 Absence of Y chromosome and SRY
antigens
 Absence of dihydrotestosterone
 Genital tubercle forms clitoris
 In males: glans penis

Genital folds form labia minora
 In males: penile urethra

Genital swellings form labia majora
 In males: scrotal sacs
 Urogenital sinus forms lower vagina
Clinical findings in a newborn
infant that raise the
possibility of intersexuality
 Apparent Male
 Bilateral nonpalpable testes in a full-
term infant
 Hypospadias associated with
separation of the scrotal sacs
 Undescended testis with hypospadias
 Intermediate
 Ambiguous genitalia
Clinical findings in a newborn
infant that raise the
possibility of intersexuality
 Apparent female
 Clitoral hypertrophy of any degree
 Foreshortened vulva with single
opening
 Inguinal hernia containing a gonad
ambiguous genitalia
according to gonadal
histology

1.  Ovary

 CAH

 Placental aromatase deficiency

 Maternal source of virilization

ambiguous genitalia
according to gonadal
histology

2.  Testis
 Leydig cell hypoplasia
 Testosterone biosynthesis defect
 5-Α -reductase deficiency
 Androgen insensitivity
ambiguous genitalia
according to gonadal
histology
 Ovary and testis
 True hermaphroditism
 4.  Dysgenetic gonads
 Gonadal dysgenesis
 Denys-Drash and Frasier syndromes
 Smith-Lemli-Opitz syndrome
 Camptomelic dwarfism
Initial evaluation of
ambiguous genitalia
Inter-sex problems
 Male pseudohermaphrodite
 Female pseudohermaphrodite
 Dysgenetic gonads
 True hermaphrodite
Male
pseudohermaphrodite
Androgen insensitivity
syndrome
 Abnormal Prenatal  Abnormal Prenatal
Differentiation Differentiation
 Sex Chromosome and
 Sex Chromosome and
Hormonal Disorders
Hormonal Disorders
 Androgen Insensitivity
 Androgen Insensitivity Syndrome
Syndrome  46, XY
 At puberty, breast  Undescended testes
development and other  Lacks a normal set of either
signs of normal female male or female internal
sexual maturation appear, structures
but menstruation does not  Normal female genitals and a
occur. shallow vagina
 Female  Sterile
DHT-deficient males
 Abnormal Prenatal
Differentiation
 Sex Chromosome and
Hormonal Disorders
 DHT-deficient males
 46, XY
 Undescended testes at birth;
testes descend at puberty
 Vas Deferens, seminal vesicles,
and ejaculatory ducts, but no
prostate; partially formed
vagina.
 Ambiguous at birth (more
female than male); at puberty,
genitals are masculinized.
Female
pseudohermaphrodite
 fetally androgenized females
 Abnormal Prenatal  Abnormal Prenatal
Differentiation Differentiation
 Sex Chromosome and Sex Chromosome and
Hormonal Disorders Hormonal Disorders
Fetally Androgenized Females
 Fetally Androgenized
46, XX
Females
Ovaries
 Normal female (individuals Normal female
with adrenal malfunction Ambiguous (typically more
must be treated with male than female)
cortisone to avoid Fertile
masculinization.
 Female, but significant level
of dissatisfaction with
female gender identity; very
oriented toward traditional
male activities.
Dysgenetic gonads
True hermaphrodite
 Abnormal Prenatal
Differentiation
Hermaphrodites
True hermaphrodites.
Exceedingly rare individuals
who have both ovarian and
testicular tissue in their
bodies; their external
genitals are often a mixture
of male and female
structures.
Developmental anomalies of
female genital tract
 Cloaca
 Urogenital sinus
 Vaginal anomalies
 Cervical anomalies
 Uterine anomalies
Vaginal anomalies
 Cloacal malformation
 Urogenital sinus
 Vaginal atresia
Vaginal anomalies
 Embryology
 Tissue origins for internal genital and
urinary structures

Mullerian ducts
 Fallopian tubes
 Uterus
 Upper third vagina
 Urogenital sinus
 Lower third vagina

Metanephric ducts
 ureters
Final anatomy of the
female genital tract
results from pairing, fusion
and recanalization of the
mullerian ducts, which
grow caudally to join
cloaca
Vaginal anomalies
 Cloacal
malformation
 Single opening on
perineum with no
separate opening
for vagina or anus

Flat labia

Phallus small
 Sex rearing
depends on size
of phallus
Vaginal anomalies
Vaginal anomalies
 Urogenital sinus defects
 occur in normal females because
of failure of urethra and vagina to
separate

Normal rectum

Uterus bicornuate
 Results from failure of fusion of
mullerian ducts to form mullerian
tubercle and vaginal plate
 Takes place after urorectal septum
separates rectum from urogenital sinus
Vaginal anomalies
 Embryology
 Congenital androgen insensitivity
syndrome
 Bilateral cryptorchid testes
 Elaborates normal mullerian inhibitory
substance
 Only distal third vagina forms
Vaginal anomalies
 Embryology
 Urogenital sinus and cloacal
malformation
 Caudal regression syndromes
 Can present with variety of vaginal, bladder,
renal and rectal anomalies
 Urogenital sinus
 Mullerian ducts do not fuse to form
mullerian tubercle

Vaginal plate not formed
Vaginal anomalies
 Vaginal atresia
 Complete
 Proximal
 Distal
Vaginal anomalies
 Vaginal atresia
 Complete
 Failure of mullerian ducts to reach
urogenital sinus
 Fallopian tubes normal
 Uterus bicornuate and rudimentary
 Ovaries always normal
Vaginal anomalies
 Vaginal atresia
 Proximal
 Result of failure of mullerian ducts to fuse
to form mullerian tubercle
 Fallopian tubes, uterus and cervix hypoplastic
or absent
Vaginal anomalies
 Vaginal atresia
 Distal
 Sinovaginal bulbs originate from
urogenital sinus forming vaginal plate
 Failure of proliferation of sinovaginal
bulbs
 Distal vaginal atresia
 Cervix, uterus and fallopian tubes normal
Vaginal anomalies
 Vaginal atresia
 Manifestations

In infancy
 Hydrocolpos
 Hydrometrocolpos

At menarche,
 Hematocolpos
 Hematometrocolpos
 Large midline mass
 Sharp, intermitent abdominal abdominal pain

Present among patients with distal vaginal
atresia
 Absent among patients with proximal vaginal

atresia, vaginal or uterine hypoplasia or

agenesis
Vaginal anomalies
 Vaginal atresia
 Meyers-Rokitansky syndrome

Congenital absence of vagina combined with
abnormal or absent uterus

Features
 Primary amenorrhea with congenital absence of
vagina
 46, XX karyotype
 Uterus varies from complete to rudimentary
bicornuate cords to complete absence
 Normal ovarian function and ovulation
 Normal breast development and body configuration
 Frequent association of renal, skeletal and other
congenital malformations
Uterine anomalies
 Not symptomatic during childhood
 Problems related to infertility or
complications of pregnancy
Uterine anomalies
 Cervical atresia
 Hypoplasia of uterus
 Uterine aplasia
 Uterine duplication
 Uterine tube duplication
Uterine anomalies
 Cervical atresia
 Rare
 Failure of development and
canalization of cervical portion of
fused paramesonephric ducts
Uterine anomalies
 Hypoplasia of uterus
 Uterine aplasia
 Normal ovaries
 Well-developed female characteristics
and cyclical breast changes
 Amenorrhea
 rare
Uterine anomalies
 Unicornuate uterus
 Aplasia of one paramesonephric duct
 Accompanying fallopian tube usually
absent or rudimentary
Uterine anomalies
 Uterine duplication
 Caused by abnormal fusion of
paramesonephric ducts
 Genital folds fail to unite normally
 Result:

Complete bicornuate uterus with two
cervices
 Duplication of uterine horns
Uterine anomalies
 Uterine tube malformations
 Cause sterility or abnormal pregnancy
 Small supernumerary or accessory
tubes attached to fimbriated ends
Developmental anomalies of
male genital tract
 Testicular anomalies
 Disorders of penis
 Disorders of scrotum
 Disorders of the inguinal canal
Disorders of penis
Disorders of penis
Disorders of scrotum
Empty scrotum
 Retractile testis
 Ectopic testes(3%)
 Dysgenetic or atrophic testes(5%)
 Absent testes(3%)
 True undescended testes(89%)
Disorders of the inguinal
canal
inguinal anatomy
Thank you.
 Table 1. Simplified classification of testicular germ cell
tumors
 Infantile tumors
 Teratoma (mature)
 Yolk sac tumor
 Gonadoblastoma
 Tumors of young adult age
 Preinvasive lesion: Carcinoma in situ (CIS, gonocytoma)
 Seminoma (classic)
 Nonseminoma

Embryonal carcinoma
 Teratoma
 Mature
 Immature
 With malignant transformation
 Extra-embryonic elements
 Choriocarcinoma
 Yolk sac tumor (endodermal sinus tumour)
 Combined tumor (elements of both seminoma and
nonseminoma)
 Spermatocytic seminoma (spermatocytoma