Female Congenital anomalies

Dr Jack Biko

2012

Congenital anomalies

• Ovaries

• Tubes

• Uterus

• Cervix

• Vagina

Congenital anomalies

• Present at birth

• Evident at birth, puberty or at C/section

• Menstrual difficulties (Amenorrhea)

• Fertility difficulties

• Pregnancy losses (15 – 25%)

• Preterm labour

• IUGR

• Abnormal lie

Causes

• Familial

• Insult to fetus in utero

• Random mutations

Mullerian defects

• Agenesis/ Hypoplasia

• Lateral fusion defects

• Vertical fusion defects

Vertical fusion defects

• Defective fusion of caudal end of mullerian duct and urogenital sinus

• Problems with vaginal canalization

• Cervical agenesis

Normal structures

Normal structures

Agenesis of mullerian structures

Vaginal agenesis

• Vaginal agenesis encountered once in 4000-10,000 female births (Rock J.A 2003)

• 23% of primary amenorrhea have vaginal agenesis.

• 90% form part of Mayer-Rokitansky-Kuster-Hauser syndrome.

• Associated renal & skeleton abnormalities.

• Absence of uterus or presence of remnants only.

• ovarian functions normal.

Vaginal anomalies

Transverse vaginal septum Imperforate hymen

Clinical features

• Cyclical abdominal pain

• Blue, distended vaginal hymen

• Solid septum

• Haematocolpos

Didelphus uterus

• Failure of mullerian tracts to fuse along most of its length

• Complete duplication

• Good pregnancy outcome

Didelphus uterus

Didelphus uterus

C/section in didelphus uterus

• Babies

ok

Bicornuate uterus

• Fundus fails to fuse

• Myometrium division extends downwards

• Groove visible outside uterus

• Few pregnancy complications

Unicornuate uterus

• One mullerian duct underdeveloped/ fails to develop

• Poor pregnancy outcome

• Missing kidney

• Ovary in wrong place

Unicornuate uterus

Hypoplastic uterus

Septate uterus

• Tracts fuse properly

• No dissolution of inner duct wall

• Uterus with 2 cavities

• Avascular septum

• Poor pregnancy outcome

Uterine septum

Arcuate uterus

DES exposure

Diagnosis

• Transvaginal ultrasoud

• 3- D ultrasound

• MRI

• Concurrent laparoscopy and hysteroscopy

Pregnancy complications

• Miscarriage

• Cervical incompetence

• Abruptio placenta

• Placenta praevia

• IUGR

• Abnormal lie of fetus

Management

• Do nothing. Just inform patient

• Hysteroscopic resection of septum

• Laparoscopic resection of non functional segment

• Laparatomy

Treatment

Vaginoplasty-Fourchette Flap & Amnion

Preoperative-Blunt vagina

K.Manhas

Treatment (Jones metroplasty)

Treatment

Jones metroplasty

Ovarian anomalies

Turner’s Syndrome Karyotype

Amniocentesis

• Monosomy X(45X) – commonest

• 46XX – rare

• Mosaic

Clinical features

• Short stature

• Lymph oedema

• Broad chest

• Reproductive sterility

• Webbed neck

• Streak ovaries

• Coarctation of aorta

• Horseshoe kidney

• Osteoporosis

• Amenorrhea

• Visual impairement

• Hearing impaired

• Miscarriage

Turner’s syndrome

Growth hormone

? Androgens

Oestrogen

Calcium

Exercise

? Pregnancy

THANK YOU