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Congenital anomalies of female genital tract.pptx
1. 1
Presented by:
Dr. Aniya Khan
Guide:
Prof. Ismath Shameem
CONGENITAL
ANOMALIES OF
FEMALE
GENITAL TRACT
2. 2
CONTENTS
1. embyology overview
2. MULLERIAN DUCT Anomalies
I. AGENESIS
II. Errors in vertical fusion
III. errors in lateral fusion
3. Anomalies of UROGENITAL SINUS
3. 4. anomalies of EXTERNAL GENITALIA
3
CONTENTS
5. ANOMALIES OF OVARies
8. Unani Concept
7. Case scenario
13. 13
Mayer–Rokitansky–Küster–Hauser syndrome (MRKH- Mullerian agenesis)
Prevalence - 1 in 5000 live female births
2nd m/c/c of pathological 1 ֯amenorrhea
Karyotype - 46XX females
Presentation
• 1 ֯amenorrhea
• Normal sec. sex characters
Examination • Normal breast development and pubic hair
• Normal height
• No vaginal opening or blind vaginal pouch with no cx at
apex
• Normal external genitalia
• Uterus not palpated on palpation
14. 14
Diagnosis
• History
• Clinical examination
• Investigations -
USG pelvis: no uterus or vaginal canal or fallopian tubes with normal ovaries
MRI (gold standard): Determines the presence of rudimentary uterine buds or
complete uterovaginal agenesis
Hormonal assay: Normal
Karyotyping: 46XX
Renal ultrasound, spine radiograph, auditory testing
Class:
Type I - isolated uterovaginal aplasia
Type II - associated with extragenital manifestations:
renal, skeletal, ear, or cardiac malformations.
15. 15
DiFFERENTIAL
DIAGNOSIS
• Congenital adrogen insensitivity
syndrome(Morris syndrome)
• Imperforate hymen
• Transverse vaginal septum
Management
• Counselling and eductation
• Correction of vaginal agenesis in MRKH syndrome with creation of a functional
neovagina - non surgical or surgical methods
• Treatment of infertility
16. 16
Non surgical methods
1st line treatment
Vaginal dilators Dilatation by
intercoarse
Daily 10-30 mins once
to thrice a day for 6-12
months
Daily
More advantageous
Low cost
Less complication
17. 17
Surgical methods
Autografts
Split skin graft
Bowel graft
Peritoneal graft
Labia majora flaps
Cultured grafts
Autologous vulval tissue
Tissue engineered
biomaterial
A space is created digitally between bladder and rectum.
Graft is used over mold and kept in situ
22. 22
Rudimentary uterine horn. (a) Abdominal ultrasound showing longitudinal uterine image. (b) Abdominal ultrasound showing a
cross-sectional image of the uterus and rudimentary uterine horn with a hypoechoic ribbon connecting the horn with the main
body of the uterus. (c) Transvaginal ultrasound showing rudimentary horn of the uterus and its endometrial echo
26. 26
FUSION
DEFECTS
LATERAL FUSION DEFECTS VERTICAL FUSION DEFECTS
COMPLETE
PARTIAL
CANALIZATION/
RESORPTION
DEFECTS
TRANSVERSE
VAGINAL SEPTUM
IMPERFORATE
HYMEN
ACCESSORY FT
DIDELPHYS UT
DOUBLE VAGINA
BICORNUATE UT
ARCUATE UT
SEPTATE UT
SEPTATE VAGINA
27. 27
ACCESSORY FALLOPIAN TUBE/ ACCESSORY OSTIA
Incidence of 1.9%
Result from the bifurcation of the proximal
ends of the müllerian ducts
Presentation:Dysmenorrhea or primary
infertility
Complication: Ectopic pregnancy, pyosalpinx,
infertility
A/W Endometriosis
Management: monofilament purse-string suture at the base of the accessory tube/ostium followed by resection or
electrocoagulation of stump.
Laproscopic diagnosis
28. 28
Uterus Didelphys
Prevalence - 8%
Associated with VS in most cases
Occasionally hemivagina is obstructed by LVS/oblique septum-
hematocolpos, hydrocolpos and endometriosis
Examination
• Lump in lower abdomen or u/l vaginal mass i/c/o obstructed one
uterine horn
• On P/V- vaginal septum & 2 cervices
• Passage of sound - 2 uterine cavities
Obstructive- u/l vaginal / pelvic pain
29. 29
Diagnosis
• USG-Separate divergent uterine horns are identified with a large
fundal cleft. Endometrial cavities are uniformly separate.
• HSG - to identify possiblity of communication between uteri. If
associated with an obstructed longitudinal vaginal septum
mimicking a unicornuate uterus.
30. 30
Abdominal ultrasound showing double uterine abnormalities. It shows both the left and right uteri,
with uterine body completely separated and two separate endometrial echoes
31. 31
DiFFERENTIAL
DIAGNOSIS
• Uterus Bicornis Bicollis (separation of horns only)
• Septate uterus (midline uterine septum)
Uterus didelphys
Uterus bicornis
bicollis
The uterine horns are separate and divergent with a
large fundal cleft
32. 32
Uterus Bicornis
Prevalence - 26%
Classification
Uterus bicornis bicollis Uterus bicornis unicollis
Diagnosis
• HSG - an angle of more than 105° between uterine horns
• USG - confirm anatomy by showing a deep (>1 cm) fundal
cleft in the outer uterine contour and an intercornual
distance of >4 cm.
Examination
• On P/V- 2 cervices
• Uterine sound - 2 cavities
33. 33
Bicornuate uterus: an abdominal scan showing an abnormal uterine cross-sectional image,
displaying a widened fundus with a saddle-shaped depression at the middle
36. 36
24 YO with C/O Anxious to conceive since 4
yrs
M/H : Reg cycles ; 4-5/ 28-30 days
12/04/23
37. 37
Septate uterus
Prevalence - 35%
• HSG - An angle of less than 75° between the uterine horns is suggestive of a septate uterus.
• MRI - uterus normal in size and each endometrial cavity appears smaller than the
configuration of a normal cavity. The septum may be composed of fibrous tissue (low T2
signal intensity), myometrial tissue (intermediate signal) or both
• USG - The echogenic endometrial stripe is separated at the fundus by the intermediate
echogenicity septum (which is isoechoic to myometrium).The external uterine contour
convex, flat, or mildly concave (ideally <1 cm) configuration. Intercornual dist <4cm
• Color Doppler: may show vascularity in the septum (70% of cases) which, if present, may be
associated with a higher rate of obstetric complications
Diagnosis
m/c Mullerian anomaly
38. 38
Septate uterus: (a) an abdominal ultrasound showing a cross-sectional image of two endometrial echoes
(marked by arrows) separated by a septum at the middle of the uterus. (b) A central septum (marked by an
arrow) in the middle of the uterus
39. 39
Incomplete septate uterus: transvaginal 3D ultrasound
showing endometrial echo as a “Y”-shaped image. The
uterine cavity is separated in its upper half and shows a
midline echo from its middle downward
Complete septate uterus: transvaginal 3D ultrasound
showing endometrial echo as a “V”-shaped image; the
uterine cavity with a hypoechoic middle septum.
40. Arcuate uterus
40
USG - In an arcuate uterus, fundus of the uterus is indented
with depth of indentation less than 1 cm giving a heart shaped
appearance.
Prevalence - 18%
Diagnosis
Mild varient- little or no impact on reproductive outcomes
41. 41
Arcuate uterus: transvaginal 3D ultrasound image showing muscular thickening at the central part
of the uterine fundus, slightly protruding into the uterine cavity
43. 43
• Better neonatal outcome, pregnancy success rates are seen with ARCUATE UTERUS.
• More cases of placental abruptions are reported with arcuate and septate, but not with
didelphys
• Septate is a/w reccurent abortions.
• Didelphic uterus has the better reproductive prognosis compared to unicornuate. Uterine
didelphys probably has an improved blood supply through collateral connections between the
two horns. Alternatively, improved fetal survival may be secondary to earlier diagnosis of the
uterine didelphys (because of the vaginal septum)
Prognosis
Diagnosis
• USG 2D & 3D
• HSG
• Laproscopy
• Hysteroscopy
• MRI
• Combined hystero-laproscopy to differentiate septate from bicornuate and
arcuate
• Diagnosis of associated defects by radiography and usg
Mostly diagnosed accidently during D&C, C-Section and manual removal of placenta
44. 44
• USG- used as the first line for evaluating the uterus. The sensitivity 88% to 93%, and the specificity 94% to
99%.
• Sonohysterography- By infusing saline solution into the uterine cavity as a contrast medium, excellent
appraisal of the uterine cavity can be obtained, most useful in delineating uterine anomalies with
sensitivity of 97% and specificity of 11%.
45. 45
• HSG- Diagnostic accuracy of HSG in differentiating septate from bicornuate uterus is as low as
55%.
• Laproscopy &Hysteroscopy: evaluation of the adnexae and pelvic cavity for possible pelvic
adhesions, tubal or ovarian distortions, and endometriosis that could be treated during the same
session.Combined hystero-laproscopy to differentiate septate from bicornuate
• Diagnosis of associated defects by radiography and usg
46. 46
• MRI- not frequently used for evaluation of uterine anomalies because of its cost.
Its accuracy and lack of ionizing radiation make this method invaluable in particular in difficult and complex
situations and when HSG or sonography fail to provide the proper and precise diagnosis.
47. 47
Management
• Asymptomatic cases- no treatment
• Rudimentary horn should be excised to reduce the risk of ectopic pregnancy
• Unification operation (bicornuate/septate uterus) - Abdominal or hysterosopic
metroplasty.
• Hysteroscopic metroplasty is more commonly done as it avoids a uterine scar and need
for elective caesarean section.
• Resection of the septum can be done either by a resectoscope or by laser
• Postoperative management:
Oral oestrogen for 3 months
Insertion of a Foley catheter with its bulb distended with 4–8 mL of sterile water for 5–7
days to keep the uterine cavity open and prevent intrauterine adhesions.
Antibiotics (doxycycline 100 mg b.i.d. for 5–7 days) and NSAID for pain
Asherman syndrome with uterine adhesions and adherent placenta are the late
complications
48. 48
Hysteroscopic Transcervical Resection of Uterine Septum
Anesthesia
Cervical dilatation
using cervical dilators
5% dextrose instilled
Uterine distention @
150mmhg
Electro-Resectoscope
(location, size, range of
septum)
Incision by needle
electrode under USG
49. 49
Strassman technique repair of a Bicornuate uterus
Epinephrine solution (30
mL) infiltrated
subserosally along medial
aspect of horns
Incision through myometrium from
supero-medial aspect of each horn,
about 2 cm medial and caudal to
origin of FT till the base of horn
Suturing of opposing myometrial
edges (Interrupted- vicryl 0);
excluding endometrium
52. 52
Longitudinal vaginal septum
Generally seen with partial or complete duplication of the cervix and uterus
Presentation:
• Asymptomatic
• Dyspareunia
• Vaginal bleeding despite tampon placement
• In case of obstructive lesion: Unilateral vaginal / pelvic pain
• Obstructed labor
Rarely, septum may deviate from the centre and fuse with one lateral vaginal wall
53. 53
O/E:
• P/v Septum can be felt
• Obstructed vagina and cervix with unilateral vaginal mass or pelvic mass
in case of obstructed variety
Diagnosis:
• History
• Examination
• USG, MRI, HSG - esp to look for associated bicornuate of
didelphic uterus
54. 54
Management - LVS
• Vaginal septum may get torn with sexual activity thus creating one vagina
• Treatment in symptomatic cases involves complete removal of the septum
• The tissue should be completely excised, since remaining fragments of the septum may cause
dyspareunia.
• The septal tissue is resected and the normal vaginal mucosa on each vaginal wall is sutured
(continuous suture) together along the length of the defect made by the resection.
59. 59
Transverse vaginal septum
Failure of the vaginal plate to regress completely
Some have small perforations that allow prolonged menstrual blood flow
In case of no opening - Accumulation of blood/mucus and distension of upper reproductive
tract
Incidence of 1 in 70,000 females
More common in upper vagina
Typically septum in thin, but seldom thickness- 5-6cm
O/E:
• Palpable mass at suprapubic region
• Foreshortened vagina
• Inability to identify the cervix.
• P/R: Bulged vagina
60. 60
Imperforate hymen
Imperforate hymen results from failure of the hymen to canalize during the
perinatal period
Diagnosed after appearance of symptoms usually during adolescence
In infants distension from mucus accumulation(hydromucocolpos)
O/E:
• Bluish bulge at the introitus
• Palpable mass at suprapubic region
• P/R: bulged vagina
Incidence of 1 in 2,000 females
62. 62
Vaginal Agenesis / Atresia
Agenesis: Failure of the urogenital sinus to contribute its expected caudal portion of the vagina
Atresia: Involves lower portion of the vagina- one fifth to one third of the total length, is replaced by 2 to
3 cm of fibrous tissue
O/E:
• Normal external genitalia and upper reproductive tract organs
• Normal breast and pubic hair
• Vaginal dimple or small pouch (1.5 inches) is seen beyond the hymeneal ring
• Rectoabdominal examination confirms the presence of midline structures
Prevalence : 1 in 5000
63. 63
Presentation- TVS / Imperforate hymen/ V. Atresia
Primary amenorrhea
Cyclic abdominal pain
Supra-pubic bulge
urinary symptoms-
frequency, dysuria,
retention
Dysfunction of defecation
No opening Opening +
(TVS/Microperforate hymen)
Abnormal menstrual flow
Painful intercoarse
Difficulty in placing or
removing tampon
Obstructed labor
65. 65
Diagnosis- TVS / Imperforate hymen / V. Atresia
History Examination
USG MRI
• TVS - Done prior to surgery to determine the thickness and
depth of the transverse septum
• Identify if a cervix is present differentiating a high vaginal
septum from cervical agenesis
• In case of atresia - Length of the atresia, the amount of
upper vaginal dilatation, and the presence or absence of a
cervix can be identified.
66. 66
Management - Transverse vaginal septum
Candidate for
TVS&IH repair
Mature adolescent/young adult Estrogen- improves healing
Postoperative vaginal
dilatation to prevent
stricture
Low Vaginal septum
High up Vaginal
septum
Retractors placed to
reveal upper extent of
vagina
Diagnostic needle
aspiration of
suspected
hematocolpos
Vaginal vault transverse
incision
67. 67
Transverse vaginal septum
Vaginal vault transverse
incision
Dissection Identification of cervix
Wide excision of
septum till base
Wound closure by
suturing cephalad v.
mucosa to caudad edge
Circumferential ring-
interrupted sutures (2-0
absorbable suture)
Stent placement
Thin
septum
Thick
septum
Skin graft
68. 68
Management - Imperforate hymen
Cruciate hymen incision (from
10-4 o’Clock & 2-8 o’Clock)
Escape of dark menstrual
blood/mucoid fluid
Trimming of hymeneal leaflets
from hymeneal ring
Irrigation of vagina by saline
Oversewing of cut edges of
leaflet base (3-0 or 4-0
absorbable suture) making
ring of sutures
Intraoperative evaluation of upper vagina/uterus - discourgaged (d/t
thinning of walls by hematocolpos or hematometra there is risk for
perforation
70. 70
Ovotestis
Fertilization by a sperm carrying one ‘X’ chromosome, which contains some male determining material from ‘Y’
Presentation:
• Unilateral ovotestis with a contralateral ovary or testis or bilateral ovotestes
• Ambiguity of external genitalia
• Internal structures depend on the degree of differentiation of the associated gonad on that side
• 75% cases develop gynecomastia
• 50% menstruate
74. 74
streak gonads/GONADAL DYSGENESIS
A/W errors of sex chromosomal pattern - Turner synd
Due to cytogenetic abnormality, the germ cells either fail to develop or fail to reach the gonads
Gonads are represented by white streaks without any germ cell
Turner synd 1 in every 2500 live female births
Work up - FSH, LH, Sr. E2, Pelvic USG, Gonadal biopsy, Karyotyping
Prenatally - cell free DNA/ USG/CVS
Presentation: primary Amenorrhea with failure to develop sec. sexual
characters, turner stigma
Counselling and management of associated disorders (cardiac, renal)
HRT- growth hormone/ estrogen
75. 75
Accessory & supernumerary ovaries
Presence of excess ovarian tissue near a normally placed ovary which is connected to it - Accessory ovary
A/w abnormalities of genitourinary tract
Supernumerary ovary is an ectopic ovary
Aberrant migration of part of the gonadal ridge after the incorporation of germ cells followed by inductive formation of the
surrounding tissue into ovarian stroma and hence ectopic ovary
Enlargement or torsion of a supernumerary ovary, however, can lead to symptoms such as abdominal pain
Diag: CT, MRI, ultrasonography, and color Doppler. If the margin is defined or a thick-walled cystic lesion can be seen on CT or
MRI, with no visible vascular connection on doppler, a supernumerary can be suspected.
77. 77
AMBIGUOUS GENITALIA
External genitals that do not appear clearly as male or female or have features of both the genders
CATEGORIES
Category - I
Category - II
Category - III
Female pseudohermaphroditism
Male pseudohermaphroditism
True hermaphroditism
78. 78
Female Pseudohermaphroditism
Adrenogenital Syndrome / Congenital Adrenal Hyperplasia
Exposure to increased androgen in maternal circulation
• AR
• Prev. : 1 in 10,000
• Inborn error of adrenal steroid metabolism (21-
hydroxylase deficiency)
• Lack of cortisol -> excess ACTH -> Excess
androgens
• Use of Danazol / norethisterone in pregnancy
• Adrenal tumor, androgen secreting tumor or
Cushing’s syndrome of the mother
Presentation:
Enlarged clitoris, presence of penile urethra or hypospadius & fusion of the labia minora
81. 81
Clitoral index (width × length in mm) more than 10 mm2
Congenital adrenal hyperplasia (m/c/c) or excess androgen in maternal circulation ( virilizing tumors or administration of
hormonal medications - androgens, estrogens, or progestins)
Paradoxical effect of estrogens on female genitalia is difficult to explain. It may conceivably be ascribed to a temporary
adrenal hyperplasia caused by their action.
Exposure to androgens between 8 and 12 weeks of pregnancy produces labioscrotal fusion and clitoral hypertrophy
After 12 weeks it only induces clitoromegaly.
82. Age Crosswise width of glans Length of hood
0–3 years >5 mm >12.6 mm
4–8 years >6 mm >18.8 mm
9–12 years >7 mm >24.2 mm
13–16 years >8 mm >27.4 mm
lengthwise width >5–6 mm
82
84. 84
Congenital clitoromegaly in premature females
Rare phenomenon
Transient finding of uncertain etiology
Spontaneous resolution during childhood
Lack of vulval fat and labial edema in preterm girls makes the clitoris appear relatively larger
DSD should be excluded
Conservative MX with reassurance
Avoidance of soap in the genital area & use of emollients
85. 85
CAH:
Replacement therapy with cortisol or aldosterone reduces excess adrenocorticotropic hormone - dec. adrogen
production from adrenal gland
Associated metabolic abnormality such as salt wasting (hyponatremia, hyperkalemia) and hypotension requires
lifelong monitoring and treatment accordingly
Reassurance & general advice
Clitoral reduction surgery
Surgery in children with DSD leads to a loss of sensation and a potential detrimental impact on future sexual
function
Surgery in childhood is essentially cosmetic
Ideally - psychological support and general help with symptoms rather than surgery
86. 86
Genital tubercle is formed by fusion of the anterior segments of the cloaca folds, which
when fail to fuse form a bifid clitoris
Associated with rare genitourinary anomalies - Female epispadias, imperforate hymen,
anorectal malformation, sacral anomalies & split symphysis pubis
Cases may present with incontinence leading to perineal skin erosion and uriniferous
odor
• Not associated with incontinence -> only vulvoplasty
• With anomalies of the urethra or bladder or associated incontinence -> surgical correction
Preva : 1 in 480,000 females
87. 87
Accessory Phallic Urethra
Abnormal descent of the Müllerian ducts results in posterior displacement of the
vaginal introitus allowing the accessory phallic urethra to form
Extremely rare condition
Extreme degree: phallus develops into penile structure with the urethra pursuing a
normal course and opening at the tip of the glans and with fusion of the labia to
resemble a scrotum
Associated with : Urinary tract obstruction
Management:
• The therapy of choice - reconstruction of the urethra and reforming the bladder neck
• Should not be carried out before the age of 3 years (postoperative bladder continence training is important)
• Lasting urinary continence can only be expected in less than 50 % of the cases
89. Management -
Surgical correction in case of aesthetic concerns, or other symptoms
Asymmetric or protuberant labia minora can be corrected by excising or trimming the excess areas and over-
sewing for closure 89
Labial hypertrophy
Uni / bi-lateral; Usually isolated
Cause- Idiopathic mostly - May be a normal varient
• Genetics, Androgenic Hormones (both labia majora and minora
hypertrophy is common with cases of adrenogenital hyperplasia)
Presention-
Chronic local irritation, problems with hygiene, discomfort, recurrent
local infections and dyspareunia
Transient hypertrophy due to transient hyperestrogenemia
90. 90
Labial hypoplasia
Associated with popliteal pterygium syndrome
Short labia with hypoplastic or absent posterior part, covering only the anterior two-thirds of the introitus
(not forming posterior commissure)
May be evident in childhood or may only be evident through development in puberty
Doesnt affect sexual function or doesnt cause any symptom
No treatment is required
91. 91
Labial fusion
Partial or complete adherence of the labia minora
Labial fusion is so nearly complete as to make the girl having no vaginal orifice or misdiagnosed as a case of intersex
In severe cases- urinary outflow obstruction with resultant bladder distention or hydronephrosis
Associated with virilization from congenital adrenal hyperplasia.
92. 92
Asymptomatic cases - no treatment required. Most separate naturally over time
Application of topical estrogen cream onto the areas of adhesion
Severe cases - Surgical separation
Recurrence is prevented by maintaining hygiene, application of estrogen or steroid cream
Fused labia with imperforate anus
103. 103
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