Congenital malformations of genital organs

1. Congenital
malformations of
genital organs
Mohamed Jammal
15.12.2014

2. Outline
• Definition
• Sex determination
• Causes
• Therapie
• Congenital disorders of genital
organs
• Congenital disorders of genital
organs

3. Definition
Congenital anomaly of the
genitalia is a medical term
referring to any physical
abnormality of the male or
female internal or
external genitalia present
at birth.

4. Sex determination

5. Causes
• excessive or
deficient androgen
• teratogenic effects:
 Chemicals
 Viruses
 Ionizing radiation
• genetically determined
• associated with anomalies of
other parts of the body in a
recognizable pattern
(syndroms)
• many causes are unknown

6. Diagnosis
• H/O Clinical Features
• Obstetrical history
• Clinical exam
• Investigations:
 Hysteroscopy
 Ultrasonography
 Saline sonography
 Hysterosalpingography

7. Diagnosis
• Investigations:
 Intravenous pyelography/
urography
 Diagnostic laparoscopy
 Computerised
tomography (CT)
 Magnetic resonance
imaging (MRI)
 Positive emission
tomography

8. Therapie
• Ultrasound of the pelvis as
well as the renal region
• Hysterogram
• Hysteroscope:
the gold standard in the
diagnosis as well as
management
• Laparoscopy
• Surgical operation

9. Therapie
1. Strassman utriculoplasty with a transverse fundal incision; in women with
bicornuate uterus
2. Jones’ operation of wedge resection of a part of fundus with the septum
followed by uniting the two horns vertically; in women with septate uterus
3. Hysteroscopic resection using a resectoscope, has a higher pregnancy rate
that other invasive procedures
4. Excision of the rudimentary horn to avoid heamatometra and ectopic
pregnancy

10. Congenital malformations of
female genital organs
internal
external
Uterine
malformation
Vaginal
malformation
Clitoromegaly
Imperforate hymen
Progestin-induced virilisation
Pseudohermaphroditism
Müllerian agenesis
Cervical agenesis
Unicornuate uterus
Uterus didelphys
Bicornuate uterus
Uterine septum
Arcuate uterus
Vaginal septum
Vaginal hypoplasia
Vaginal atresia

11. Müllerian agenesis = Mayer-
Rokitansky-Küster-Hauser
Syndrome (MRKH)
• Congenital absence of the uterus
and vagina (small rudimentary
uterine bulbs are usually present
with rudimentary fallopian tubes)
 Menstruation does not appear at the
usual age because the uterus is
absent
• Normal ovarian function, including
ovulation
• Phenotypic sex:
female (normal development of
breasts, body proportions, hair
distribution, and external genitalia)

12. • Genetic sex:
female (46, XX karyotype)
• Frequent association of other
congenital anomalies (skeletal,
urologic, and especially renal)
• 15% of primary amenorrhea
• Normal female range testosterone
level
• First seen by a gynecologist at
age 14 to 15 years, when the
absence of menses causes concern
Müllerian agenesis = Mayer-
Rokitansky-Küster-Hauser
Syndrome (MRKH)

13. Unicornuate uterus
• Seen in 1% cases and is
associated with renal
abnormality on the same
side
• Recognized by the absence
of round lig. and fallopian
tube on the opposite side
• Can cause abortion,
preterm labor and IUGR
no horn no cavity
communicating non-communicating

14. Uterus didelphys
• Two Mullerian Ducts fails
to fuse along the whole of
their lengths
• Develop normally and
remain separate
• Two vaginas open at the
vulva
• A vaginal Septum can be
seen
• Two cervices seen

15. Bicornuate uterus
• Two Mullerian ducts fuses
at the body of the uterus
• Uterus bicornis bicollis:
Vagina is single but the
two cornua remain
separated and two cervices
project into the vagina.
• Uterus bicornis unicollis:
Vagina is single with a
single cervix

16. Uterine septum
• Although the two
Mullerian ducts have
fused, a median septum
passes from the fundus of
the uterus to the cervix and
may extend into the vagina
• In Uterus subseptus, the
septum is retricted to the
body of the uterus

17. Vaginal septum
Transverse Vaginal Septum Longitudinal vaginal septum

18. TRANSVERSE VAGINAL
SEPTUM
• Vertical fusion - complete cavitation
of the vaginal plate between the
sinovaginal bulbs and uterovaginal
canal.
• Transverse vaginal septum may be
caused by a failure of this process
• incidence of 1 in 70,000 females
• The septum may be obstructive, with
accumulation of mucus or menstrual
blood, or may be non-obstructive,
allowing for flow of mucus and
blood.

19. TRANSVERSE VAGINAL
SEPTUM
• Transverse vaginal septum can develop
at any level within the vagina but is
more common in the upper portion
• 46% of septa were located in the upper
vagina, 35% in the middle, and 19
percent in the lower portion of the
vagina.
• fluid and mucus collection in the upper
vagina, resulting in a mass that that
may be large enough to compress
abdominal or pelvic organs
• Maybe associated with urologic
abnormalities

20. Longitudinal vaginal septum
• Results from defective lateral
fusion and incomplete
reabsorption of the paired
müllerian ducts.
• These septa are generally seen
with partial or complete
duplication of the cervix and
uterus.
• Pt complain of difficulty with
intercourse or with complaints of
vaginal bleeding

21. Longitudinal vaginal septum
• In an obstructive variety of
longitudinal vaginal septum -patient
presents in adolescence with normal
menarche, but reports worsening
monthly unilateral vaginal and pelvic
pain
• On examination, a patent vagina and
cervix is noted, but a unilateral
vaginal and pelvic mass can be seen.
The mass represents obstruction of
one of the hemivaginas associated
with uterine duplication.

22. Imperforate hymen
• By the 12th week, the
paramesonephric ducts and/or
upper vagina joins with the
vaginal plate, which canalizes
beginning caudally and
creates the lower vagina.
• By the fifth month of
gestation, the canalization of
the vagina is complete.

23. Imperforate hymen
• The hymen is formed from
the proliferation of the
sinovaginal bulbs, becoming
perforate before or shortly
after birth.
• An imperforate hymen results
when this "sheet" of tissue
fails to completely canalize.
• Varying degrees of
perforation result in findings
such as a cribriform or septate
hymen.

24. • Clinical manifestations:
 Classic appearance of bulging,
blue-domed, translucent
membrane
 Cyclic pelvic pain due to
hematocolpos, hematometria
• Diagnosis:
 Pelvic/ Rectal exam
 Ultrasound
 MRI
• Treatment:
 Cruciate incision
Imperforate hymen

25. • Anorchia
• Congenital absence of the vas deferens
• Cryptor
• Hypospadias
• Penile agenesis and testicular agenesis
• Persistent Müllerian duct syndrome
• Pseudovaginal perineoscrotal hypospadias
• Sertoli cell-only syndrome
Congenital malformations of
male genital organs

26. Anorchia
• an XY disorder of sex development in which individuals
have both testes absent at birth
• Within a few weeks of fertilization rudimentary
gonads (testes)
• If the testes fail to develop within eight weeks
female genitalia (swyer syndrome).
• If the testes begin to develop but are lost or cease to
function between eight and 10 weeks ambiguous
genitalia .
• Testes are lost after 14 weeks partial male genitalia
with the notable absence of gonads.

27. TREATMENT
androgen (testosterone) supplementation
to artificially initiate puberty
testicular prosthetic implantation
psychological support
testicular regression syndrome (TRS)

28. Congenital absence of the vas
deferens (CAVD)
Congenital absence of the vas deferens is a condition in
which the vasa deferentia reproductive organs, fail to form
properly prior to birth. It may either be unilateral (CUAVD) or
bilateral (CBAVD) able to create sperm but are unable to
transport them.
Causes:
• The larger group is associated with cystic
fibrosis mutation in the CFTR gene
• The smaller group (estimated between 10 and 40%)
associated with Unilateral Renal agenesis (URA). The
genetic basis of this second group is not well understood.

29. Diagnosis and Treatment
Diagnosis
• Scrotal ultrasonography
• Transrectal ultrasonography
Treatment
• Individuals with CAVD can reproduce with the
assistance of modern technology with a combination
of testicular sperm extraction and intracytoplasmic
sperm injection (ICSI).
• Risk of either cystic fibrosis or renal agenesis is likely
to be higher in the children, genetic counseling is
generally recommended