CONGENITAL MALFORMATIONS

FEMALE GENITAL TRACT

DEVELOPMENT OF FEMALE GENITAL TRACT• GONADAL DEVELOPMENT IS SEPARATE FROM THAT

OF THE DUCTS. NORMAL OVARY MAY BE PRESENT WITH ABSENT UTERUS & TUBES.

• MULLERIAN & WOLFIAN DUCTS ARE CLOSELY RELATED . HENCE ASSOCIATION WITH MALFORMATIONS OF THE RENAL TRACT

• SEVERE CONGENITAL ANAMOLIES MAY BE ASSOCIATED WITH CHROMOSOMAL ABNORMALITIES

DEVELOPMENT OF FEMALE GENITAL TRACT EARLY EMBRYO – INTERMEDIATE CELL MASS FORMS MEDIAL PART OF UROGENITAL RIDGE FORMS URINARY TRACT &

GENITAL TRACT ; except Bladder, Urethra,Vagina,Vulva. Initially all embryos are undifferentiated. Hence INDIFFERENT

Gonad . Cells from Coelom migrate to medial part of urogenital ridge . Development depends on the XY Genotype Chromosomal expression of H-Y Factor which promotes Testicular differentiation and secretion of ANTI-MULLERIAN FACTOR which causes regression of the Mullerian system while the Wolfian Ducts grow in response to Testosterone secreted from testes and differentiate into the retetubules, Epididymis, Vas, Prostrate, Seminal Vesicles.

Absence of Y genes, leads to Gonad forming into Uterus and since no AMF is secreted so Mullerian ducts differentiate while the Wolfian ducts regress in XX Genotype.

DEVELOPMENT OF FEMALE GENITAL TRACT• MULLERIAN DUCTS ARE SOLID COLUMNS/CORDS OF CELLS,

which later CANALISES.• THEY ARE INITIALLY SEPERATE CEPHALIC part but join up

Caudally and then open into the Urogenital sinus as mullerian tubercles.

• Upper part forms Fallopian Tubes, Lower part forms the Uterus,Cervix,Upper2/3 of Vagina

• The cavity (lumen) is formed by canalisation.• SINO-VAGINAL BULBS from the Mesodermal thickening

forms the lower 1/3 of VAGINA.• The membrane seperating upper & lower vagina disappears.• WOLFIAN DUCT remnants may form cysts Epoopheron,

Paraoopheron, Gartner’s Duct

DEVELOPMENT OF FEMALE GENITAL TRACT• VULVA develops in the area between the coccyx and

the umbilicus from 2 Genital tubercles.• The tubercles fuse to form a single tubercle the

Clitoris. Posteriorly two genital swellings are present which form the Labia Majora ; medial to this are 2 folds which form the Labia minora

DEVELOPMENT OF FEMALE GENITAL TRACT• APLASIA- Nondevelopment of Organs.

Complete aplasia is associated with severe malformations of the Urinary system, may not be compatible with life. APLASIA OF OVARY RARE. May be found in TURNER’S Syndrome XO Genotype, Ovarian tissue replaced by a fibrous band without germinal epithelium. Associated absence of tubes.

• HYPOPLASIA- Poor development of Organs.• ATRESIA- Noncanalisation of part / whole of the system. Commonest

Vagina Part / Complete Atresia• NONFUSION or Imperfect fusion of Mullerian Ducts.• HERMAPHRODITISM TRUE- Should have both Gonads - Ovary &

Testes as well as both external genetalia CLINICALLY NOT POSSIBLE.• HERMAPHRODITISM PSEUDO- FEMALE : Gonad Ovary and External

Genetalia Male• URINARY TRACT DEVELOPMENT ANAMOLIES HYPOSPADIASIS &

ECTOPIA VESICAE often associated.

CONGENITAL MALFORMATIONS• VAGINAL ATRESIA : Partial / Complete .

Ovary,Tubes,Uterus are normal. No outlet for OVA or Menstrual blood. Blood collects in Vagina.

1.H/o Primary Amenorrhoea Cryptomenorrhoea.2.Internal collection of blood - Pain and discomfort - Haematocolpos - Haematrometra - Haematosalpinx - Haematoperitoneum3.Urinary Retention

CONGENITAL MALFORMATIONS• IMPERFORATE VAGINA (HYMEN)Bluish discoloration of hymenRx Drainage (i)Excision of Hymen(ii)Canalisation of

Vagina(iii)Allow blood to drain by gravityDo not place drain or press abdomen. PV after a

month on followup . Antibiotics in case of infection

CONGENITAL MALFORMATIONS• FUSION DEFECTS1.UTERUS DIADELPHIS :2 Uterii, 2 Cervix, 2 Vaginas2.UTERUS BICORNUATE , BICOLLIS :2 Uterii, 2 Cervix, septate

vagina3.UTERUS BICORNUATE , UNICOLLIS : 2 Uterii, Septate Cervix &

Vagina4.SEPTATE / SUBSEPTATE UTERUS5.SEPTATE VAGINA6.ARCUATE UTERUS : Fundus not well developed7.UNICORNUATE : One side Mullerian duct develops8.RUDIMENTARY HORN : One horn develops normally other does

not develop. Types – Communicating/ Noncommunicating9.UNILATERAL HAEMATOCOLPOS - Cryptomenorrhoea

CONGENITAL MALFORMATIONS• CLINICAL FEATURES :-1.Symptomless – accidental discovery on USG/Exam2.Menstrual problems – Menorrhagia3.Unilateral dysmenorrhoea – abnormal contraction of one horn of

uterus4.Coital difficulty – Pain or Bleeding (septate vagina)5.Obstetrical Problems – Infertility (coitus in rudimentary half of vagina)Ectopic Pregnancy (rudimentary horn)Habitual Abortions / Premature LabourMalpresentations – Transverse lie / Breech presentation in Septate

Uterus & Bicornuate/Unicornuate UterusDuring Labour – Dysfunctional Labour, Obstructed Labour

(Rudimentary horn), Postpartum Haemorrhage /Retained Placenta

CONGENITAL MALFORMATIONS DIAGNOSIS :H/O Clinical FeaturesOBSTETRICAL HISTORYCLINICAL EXAMMAY MISTAKE TWO CORNU FOR FIBROID UTERUS INVESTIGATIONS :ULTRASONOGRAPHYSALINE SONOGRAPHYHYSTEROSALPINGOGRAPHYINTRAVENOUS PYELOGRRAPHY / UROGRAPHYDIAGNOSTIC LAPROSCOPICCOMPUTERISED TOMOGRAPHYMAGNETIC RESONANCE IMAGINGPOSITIVE EMISSION TOMOGRAPHY

CONGENITAL MALFORMATIONS• PROBLEMS ON UNDIAGNOSED CASES1. DYSMENORRHOEA – dilatation done on one side

other side produces pain2. INTRODUCTION OF IUCD – IUCD placed in opposite

horn, pregnancy develops in undetected horn3. CAESAREAN Section due to nondilatation of Cervix4. MTP / MR Suction Evacuation – Pregnancy may

continue as procedure done in opposite horn5. CARCINOMA CERVIX may be missed

CONGENITAL MALFORMATIONS• TREATMENT OPERATIVEUNIFICATION OF HORNS – METROPLASTY

May be done by Abdominal Route STRASSMAN’S Hysteroscopic Resection of septae

EXCISION OF VAGINAL SEPTAEXCISION OF RUDIMENTARY HORN to prevent risk

of Ectopic Pregnancy