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Presented by:
Dr. Aniya Khan
Guide:
Prof. Ismath Shameem
CONGENITAL
ANOMALIES OF
FEMALE
GENITAL TRACT
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
4. anomalies of EXTERNAL GENITALIA
3
CONTENTS
5. ANOMALIES OF OVARies
8. Unani Concept
7. Case scenario
4
EMBRYOLOGY
Cellular differentiation Migration
Fusion Canalization
5
Testicular
determining factor
Testicular
determining factor
AMH
Testes
Undifferentiate
d gonad Undifferentiate
d gonad
Ovary
6
DHT
DHT
UROGENITAL
RIDGE
7
EMBRYOLOGY
GONADS
DUCTAL
SYSTEM
CLOACA
ANAL CANAL
UROGENITAL
SINUS
EXTERNAL
GENITALIA
8
6 WK 7 WK
8-9
WK
9 WK
9
11-12
WK
20 WK
10
Urogenital sinus
Mullerian duct
11
Failure of initial descent
(defect in formation)
Agenesis
Failure of vertical fusion
Failure of lateral fusion or
resorption
transverse vaginal septum IMPERFORATE HYMEN
Duplication defects
12
Agenesis
Mayer–Rokitansky–Küster–Hauser syndrome
Unicornuate uterus
Segmental hypoplasia/agenesis of mullerian
duct
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
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
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
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
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
Treatment for infertility
Uterus transplantation
18
IVF f/b gestational
surrogacy
Legal adoption
19
Unicornuate uterus
Prevalence - 5–20% of congenital uterine anomalies (4.3% of population)
Classification
Unicornuate with
rudimentary horn
(TYPE-A)
Unicornuate without
rudimentary horn
(TYPE-B)
+ Functioning endometrium
(TYPE-A1)
+ No cavity/functioning
endometrium
(TYPE-A2)
Communicating
(TYPE-A1a)
Non Communicating
(TYPE-A1b)
20
Presentation
• Asymptomatic
• Infertility
• Dysmenorrhea
• Endometriosis(non
comunicating)
Examination
• Uterus is markedly deviated
• Other findings are normal
Diagnosis
• HSG - Deviated banana shaped cavity with single
fallopian tube
• USG - Rudimentary horn is best confirmed
• Cornual pregnancy
• Obstructed labor
21
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
23
TYPE A1b
24
25
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
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
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
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
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
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
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
Bicornuate uterus: an abdominal scan showing an abnormal uterine cross-sectional image,
displaying a widened fundus with a saddle-shaped depression at the middle
34
35
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
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
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
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.
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
Arcuate uterus: transvaginal 3D ultrasound image showing muscular thickening at the central part
of the uterine fundus, slightly protruding into the uterine cavity
42
Mullerian uterine defects
Presentation
• Midtrimester miscarriages
(esp unicornuate and
septate)
• Cervical incompetence
• Malpresentations
• IUGR, IUD, Preterm labor
• Obstructed labor (uniconuate
with horn and bicornuate)
• Prolonged labor
• PPH & Retained placenta
• Infertility
• Dyspareunia
• Menstrual disorder-
menorrhagia(more surface area),
cryptomenorrhea
Associated
anomalies
• Urinary tract abnormalities (40%)- renal agenesis
• Skeletal abnormalities (12%)
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
• 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
• 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
• 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
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
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
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
50
Wedge resection for septate
51
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
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
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.
55
56
57
58
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
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
61
ANOMALIES OF urogenital sinus
Vaginal
Atresia
Vaginal Agenesis
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
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
64
Complications- TVS / Imperforate hymen / V. Atresia
Hematometra/salpinx Lymphatic obstruction
Endometriosis Acute urinary retention
Hydro ureteronephrosis
Bacterial nephritis
Kidney failure
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
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
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
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
69
Anomalies of ovaries
Ovotestis
Gonadal
dysgenesis
Accessory
ovary
Supernumerary
ovary
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
71
72
73
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
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.
76
ANOMALIES OF VULVA
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
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
79
80
ANOMALIES
OF
CLITORIS
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.
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
83
Associated Symptoms
• Discomfort
• Errections
• Chafing
Investigations
R/O DSD
• USG - Reproductive tract
• Karyotyping
• Sr. Hormonal profile - Testosterone, 17 -
hydroxyprogesterone
• Gonadal biopsy
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
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
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
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
88
FUSION
HYPOPLASIA
HYPERTROPHY
ANOMALIES OF LABIA
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
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
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
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
93
Case scenario
94
95
96
UNANI CONCEPT
97
CLITOROMEGALY
Jarahiyaat zohrawi
98
Al-Qanoon-fit-tib
99
Ratqa
Al-Hawi
10
0
Al-Hawi
101
Jarahiyaat zohrawi
10
2
Al-Qanoon-fit-tib
103
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Complication? J Clin Diagn Res. 2016 Dec;10(12):QD10-QD11. doi: 10.7860/JCDR/2016/23212.9072. Epub 2016 Dec 1.
PMID: 28208951; PMCID: PMC5296524.
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• Williams CE, Nakhal RS, Achermann JC, Creighton SM. Persistent unexplained congenital clitoromegaly in females born
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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
  • 8. 8 6 WK 7 WK 8-9 WK 9 WK
  • 11. 11 Failure of initial descent (defect in formation) Agenesis Failure of vertical fusion Failure of lateral fusion or resorption transverse vaginal septum IMPERFORATE HYMEN Duplication defects
  • 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
  • 18. Treatment for infertility Uterus transplantation 18 IVF f/b gestational surrogacy Legal adoption
  • 19. 19 Unicornuate uterus Prevalence - 5–20% of congenital uterine anomalies (4.3% of population) Classification Unicornuate with rudimentary horn (TYPE-A) Unicornuate without rudimentary horn (TYPE-B) + Functioning endometrium (TYPE-A1) + No cavity/functioning endometrium (TYPE-A2) Communicating (TYPE-A1a) Non Communicating (TYPE-A1b)
  • 20. 20 Presentation • Asymptomatic • Infertility • Dysmenorrhea • Endometriosis(non comunicating) Examination • Uterus is markedly deviated • Other findings are normal Diagnosis • HSG - Deviated banana shaped cavity with single fallopian tube • USG - Rudimentary horn is best confirmed • Cornual pregnancy • Obstructed labor
  • 21. 21
  • 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
  • 24. 24
  • 25. 25
  • 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
  • 34. 34
  • 35. 35
  • 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
  • 42. 42 Mullerian uterine defects Presentation • Midtrimester miscarriages (esp unicornuate and septate) • Cervical incompetence • Malpresentations • IUGR, IUD, Preterm labor • Obstructed labor (uniconuate with horn and bicornuate) • Prolonged labor • PPH & Retained placenta • Infertility • Dyspareunia • Menstrual disorder- menorrhagia(more surface area), cryptomenorrhea Associated anomalies • Urinary tract abnormalities (40%)- renal agenesis • Skeletal abnormalities (12%)
  • 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
  • 51. 51
  • 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.
  • 55. 55
  • 56. 56
  • 57. 57
  • 58. 58
  • 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
  • 61. 61 ANOMALIES OF urogenital sinus Vaginal Atresia Vaginal Agenesis
  • 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
  • 64. 64 Complications- TVS / Imperforate hymen / V. Atresia Hematometra/salpinx Lymphatic obstruction Endometriosis Acute urinary retention Hydro ureteronephrosis Bacterial nephritis Kidney failure
  • 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
  • 71. 71
  • 72. 72
  • 73. 73
  • 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
  • 79. 79
  • 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
  • 83. 83 Associated Symptoms • Discomfort • Errections • Chafing Investigations R/O DSD • USG - Reproductive tract • Karyotyping • Sr. Hormonal profile - Testosterone, 17 - hydroxyprogesterone • Gonadal biopsy
  • 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
  • 94. 94
  • 95. 95
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