1. Dr. Zahida Brohi
FCPS
ASSITANT PROFESSOR
IUH,HYDERABAD
Developmental Anomalies

2. Human sexual differentiation
Chromosomal sex
Gonadal sex
External genital sexInternal genital sex
SEX ASSIGNMENT
Gender identity
and role
Sex of rearing

3. Gonadal developmentGonadal development

4. Gonadal developmentGonadal development
SRY-gene (TDF)
Short arm of Y chromosome
Bipotential
Gonad
2 X chromosomesReceptors
For H -Y antigen
OVARYTESTES
Present Absent

5. Internal genital organs
development

6. FemaleMale
Urogenital sinus
External genital organsExternal genital organs
developmentdevelopment

7. Leydig
cells
Sertoli
cells
Testosterone Mullerian inhibiting
factor
Wollfian duct 5a-reductase
Urogenital sinus
Regrsession of
Muuleian ducts
Male external genitalia
Male internal
Genital organs
DHT
TESTIS
Male
development

8. Urogenital sinus
Female external genitalia
. Lower part of vagina
OVARY
Mullerian
ducts
Female internal genital
Organs
. Most of upper vagina
. Cervix and uterus
. Fallopian tubes
Neutral
Development
Absence of androgen exposure
Female
development

10. Why is this important?Why is this important?
Majority have no problem conceiving, but
have higher rates of:
– 1. Spontaneous Abortion
– 2. Premature Delivery
– 3. Infertility
– 4. Abnormal Fetal Lie
– 5. Dystocia at delivery
– 6. Dysmenorrhea, endometriosis
– 7. Cervical incompetence

11. Anomalies of Female DuctalAnomalies of Female Ductal
SystemSystem

12. Mullerian AnomaliesMullerian Anomalies

13. Classification into 3 groups:Classification into 3 groups:
Based on similar embryonic developmentBased on similar embryonic development
defects and clinical presentationdefects and clinical presentation
1. Agenesis of uterus/vagina: Rokitansky-
Kuster-Hauser Syndrome.
2. Defects in Vertical Fusion (obstructive or
non-obstructive)
3. Lateral Fusion defects (obstructive or
non-obstructive).

14. Mayer-Rokitansky-Kuster-Hauser
Syndrome (utero-vaginal agenesis)
 15% of primary
amenorrhea
 Normal secondary
development & external
female genitalia
 Normal female range
testosterone level
 Absent uterus and upper
vagina & normal ovaries
 Karyotype 46-XX
 15-30% renal, skeletal and
middle ear anomalies

15. RKH Syndrome: DiagnosisRKH Syndrome: Diagnosis
Expected Menarche
Difficult to differentiate from imperforate
hymen
No uterus on exam, U/S, MRI,
Laparoscopy, IVP
Confused with Androgen Resistance
Syndrome with shallow pouch and no
uterus.
Determine karyotype.

16. Vertical Fusion Defects:Vertical Fusion Defects:
obstructive and non-obstructiveobstructive and non-obstructive
Incomplete cavitation of the vaginal plate
formed by the down-growing mullerian
ducts and the up-growing urogenital sinus.
Can be considered in two categories:
1.Imperforate Hymen
2.Transverse Vaginal Septum

17. Imperforate Hymen

18. Transverse Vaginal SeptumTransverse Vaginal Septum

19. Lateral Fusion Defects:Lateral Fusion Defects:
obstructive and non-obstructiveobstructive and non-obstructive

20. Lateral Fusion DefectsLateral Fusion Defects
 Most common type of mullerian defects
 The resulting organs are either asymmetric or
symmetric and obstructed or nonobstructed.
 Result from failure of formation of one mullerian
duct, migration of a duct, fusion of the mullerian
ducts, or absorption of the intervening septum.
Defective resorption of the septum between the
fused mullerian ducts results in a uterine septum,
which may extend either partially down the uterus
or the full length to the cervix. This is the most
common uterine defect.

21. Obstructive Defect of Lateral Fusion:Obstructive Defect of Lateral Fusion:
Failure of lateral fusion of two mullerian ducts and failure of oneFailure of lateral fusion of two mullerian ducts and failure of one
duct to communicate with the outside, thus unilateral obstruction.duct to communicate with the outside, thus unilateral obstruction.
Uterus didelphys with obstructed hemivagina with ipsilateral renalUterus didelphys with obstructed hemivagina with ipsilateral renal
agenesisagenesis

22. Didelphic UterusDidelphic Uterus