THIS PPT COMPRISES OF ALL THE ABNORMALITIES IN DEVELOPMENT OF FEMALE GENITALIA

1. ABNORMALITIES IN
DEVELOPMENT OF
FEMALE GENITAL TRACT
BY,
JAIDEEP NAIK M N
DEPT. OF OBSTRETICS AND GYNECOLOGY

2.  Differentiation of the gonad into testes or
ovary is genetically determined.
 Disorders of sexual differentiation and
development can occur due to
 chromosomal abnormalities, or
 abnormalities in hormone production/hormone receptors.
 Development of the internal and external
genital organs is independent of the
development of the gonad, though controlled
by the hormones from the gonad.
Classification of developmental
anomalies of genital tract
• Disorders of sexual development
• Developmental disorders of the vagina
• Developmental disorders of the cervix and uterus

3. Classification of disorders of sexual development
46,XX DSD
46,XY DSD
Ovo-testicular DSD

4.  This, by definition, is female genotype,
normal ovaries but with virilization of
external genitalia.
 Exposure to endogenous androgens as in
congenital adrenal hyperplasia (CAH) is
the most common cause.
 This may be a neonatal emergency due to
electrolyte disturbances.
Virilization of female external genitalia in a newborn
infant with congenital adrenal hyperplasia

5.  In this condition, the genotype is male, but there is
inadequate masculinization of external genitalia.
This can be due to the following defects:
i. Inadequate testosterone production due to enzyme
defects
ii. Inadequate testosterone metabolism 5a-reductase
deficiency
iii. Partial androgen insensitivity syndrome
iv. Complete androgen insensitivity syndrome
v. XY gonadal dysgenesis
vi. Isolated deficiency of AMH
Incomplete masculinization of male fetus.
Testes are seen in the labia and the penis
is underdeveloped with hypospadias-
partial androgen-insensitivity syndrome.

6. • These children are born with testis on one side
ovary on the other side or ovotestes on both
sides.
• Karyotyping may reveal 46,XX, 46,XY or mosaics
with any combination.
• Müllerian structures are generally present due to
deficient AMH, and masculinization of external
genitalia is not complete.

8.  History
 Prenatal exposure to androgens
 Consanguineous marriage
Clinical examination
Features of Turner syndrome[45,X0]
• Webbed neck
• Cystic hygroma
Features of hypoadrenalism
• Pigmentation
• Lethargy
External genitalia
• Microphallus
• Hypospadias
• Clitoromegaly
• Posterior labial fusion
Testes
• Absent
• Present in
• Scrotum
• Labia majora
• Inguinal region
Investigations
• Karyotyping
• Tests for congenital adrenal
hyperplasia
• Serum electrolytes
• 17-Hydroxyprogesterone DHEA
Ultrasonography
• Gonads
• Uterus
• Vagina

9. Infants with CAH require immediate correction of electrolyte disturbances.
Sex of rearing, genital reconstruction and psychological issues have to be
decided upon in consultation with the parents.
Corrective surgery, hormone therapy and gonadectomy may be required at
or after puberty.
The following points must be remembered:
 All infants with XX karyotype and CAH should be reared as girls and corrective
surgery performed for clitoromegaly and labial fusion at the appropriate time.
 Children with complete androgen insensitivity should also be raised as females.
XY chromosome will have partial development of male external genitalia
and further development at puberty. These children should be raised as
males.

10. Vaginal agenesis
• Complete[failure of canalization of vagina, associated with
mullerian agenesis].
• Partial[failure of canalization of the lower part of the vagina-
distal to the normal uterus, cervix and upper vagina leads to
this anomaly].
Imperforate hymen[Situated at the junction of sino-vaginal bulbs
and urogenital sinus]
Anomalies of vertical fusion
• Transverse vaginal septum[Non canalization at the junction b/w
the two developmental parts of vagina : Mullerian tubercle and
Sino-vaginal bulbs, m/c upper 1/3rd ]
Anomalies of lateral fusion
• Longitudinal septum[ may be complete or partial, the uterus
normally developed , or other anomalies such as septate,
bicornuate uterus or uterus didelphys]
• Longitudinal septum with obstructed hemi-vagina.

11. Evaluation of vaginal
anomalies
Clinical evaluation
 Examination of external
genitalia
 Per rectal examination to
look for hematocolpos
and uterus
 Examination under
anesthesia
Investigations
Ultrasonography
Magnetic resonance
imaging, if required
Surgical management of vaginal anomalies
• Imperforate hymen
• Cruciate incision
• Transverse vaginal septum
• Excision of septum
• Longitudinal septum
• Excision of septum
• Vaginal agenesis with hematocolpos[vaginal
retention of menstrual blood at puberty]
• Drainage of hematocolpos
• Vaginal reconstruction
• Total vaginal atresia (MRKH)
• Nonsurgical
• Gradual dilatation
• Surgical
• McIndoe vaginoplasty
• Williams vulvovaginoplasty
• Sigmoid vaginoplasty

13. These are grouped under Müllerian duct anomalies. They
result from defective fusion or canalization.
The defects may involve the entire length of the
Müllerian ducts, but more often they are segmental.
Class I anomalies include vaginal anomalies, It is
important to remember that many of these anomalies
produce no symptoms and go unnoticed.
The most common anomaly is septate uterus.
Most women with Müllerian anomalies with out- flow
obstruction present with amenorrhea and abdominal
pain at puberty.
Total non fusion anomalies produce no symptoms;
anomalies such as arcuate uterus are generally
undiagnosed.
Septate uterus, rudimentary horn, bicornuate uterus
and uterus didelphys can give rise to problems
during pregnancy.

14. A unicornuate uterus is a rare
condition that causes a person to
have only half a uterus.
A bicornuate uterus is a uterine
malformation that is produced
due to impairment in the fusion
of Mullerian ducts.
Uterus didelphys is a rare
condition where a person
develops two uteruses. It’s also
called a double uterus. A
double uterus is a congenital
abnormality that you are born
with.

15. Clinical problems of Müllerian
anomalies
 Gynecological
 Primary amenorrhea
 Outflow obstruction
 Dyspareunia
 Infertility
 Ectopic pregnancy
 Obstetric
 Recurrent pregnancy loss
 Preterm labor
 Malpresentations
 Fetal growth restriction
 Antepartum hemorrhage
 Dystocia
 Ruptured uterus
 Retained placenta
 Postpartum hemorrhage
Management depends on the type
of anomaly. In women with
vaginal agenesis, vaginal
reconstruction is performed.
Rudimentary horn with signs of
obstruction should be excised.
Uterine septum can be excised
hysteroscopically.
Strassman metroplasty consists of
wedge resection of the septum
and reconstruction of the uterus
and may be indicated in women
with a bicornuate uterus.