Dsd update

Disorders of Sexual Differentiation
(DSD)
DR.ASHRAF HAMED
PROFESSOR OF PEDIATRIC
SURGERY
AL AZHAR UNIVERSITY

‫الرحيم‬ ‫الرحمن‬ ‫هللا‬ ‫بسم‬
‫ذ‬َ‫ي‬َ‫ف‬ ُ‫د‬َ‫ب‬َّ‫الز‬ ‫ا‬َّ‫م‬َ‫أ‬َ‫ف‬َّ‫م‬َ‫أ‬ َ‫و‬ ً‫ء‬‫ا‬َ‫ف‬ُ‫ج‬ ُ‫ب‬َ‫ه‬‫ا‬َ‫م‬ ‫ا‬
‫م‬َ‫ي‬َ‫ف‬ َ‫اس‬َّ‫ن‬‫ال‬ ُ‫ع‬َ‫ف‬‫ن‬َ‫ي‬ِ‫ض‬‫ر‬َ‫أل‬‫ا‬ ‫ي‬ِ‫ف‬ ُ‫ث‬ُ‫ك‬
ُ َّ‫اّلل‬ ُ‫ب‬ ِ‫ر‬‫ض‬َ‫ي‬ َ‫ك‬ِ‫ل‬َ‫ذ‬َ‫ك‬َ‫ل‬‫ا‬َ‫ث‬‫م‬َ‫أل‬‫ا‬
(17﴾[‫الرعد‬]
Wednesday, February 14, 2018 DR. ASHRAF HAMED 2

DEFINITION OF DSD
Disorders of Sexual Development (DSD).
• This was coined by International Consensus Conference on
Intersex organized by the Lawson Wilkins Pediatric
Endocrine Society and the European Society for Pediatric
Endocrinology in 2006.
• The medical term disorders of sex development (DSDs) is
used to describe individuals with an atypical composition of
chromosomal, gonadal and phenotypic sex, which leads to
differences in the development of the urogenital tract and
reproductive system.

NORMAL GENDER AND SEXUAL
DIFFERENTIATION
Chromosomal gender determines gonadal gender,
with XX resulting in ovarian development and XY
resulting in testicular formation.
 Finally, the gonadal function determines the
phenotypic gender.
The simple Y = male, no Y = female equations are not
always valid.
The testis determining factor (TDF) is located on the
short arm of the Y chromosome near the centromere.
SRY appears to be expressed by the somatic
cells from the urogenital ridge and not from
germ cells.

NORMAL GENDER AND SEXUAL
DIFFERENTIATION
 Absence of the SOX9 gene results in a female phenotype in
the majority of chromosomal males.
 The Wilms tumor gene (WT1) appears to play a key role
not only in renal development, but also in testicular
development.
 The SF1 gene is involved with steroid hormone production
and the production of Müllerian-inhibiting substance (MIS).
 The DAX1 gene appears to be essential for the development
of the ovary.

Embryology
 Until about 7 weeks of gestation, the fetus is
sexually indifferent with two different
bipotential gonads and two internally
developing wolffian and mullerian ducts.
 Embryologically, there are two undifferentiated
bipotential gonads in every embryo.
These bipotential gonads develops from the
urogenital ridge and ultimately develop into
either a testis or an ovary.
In the absence of functioning testicular tissue,
the female internal Müllerian duct structures
develop.

External genital development
• External genital development
follows a similar path .
• In the absence of the
testosterone metabolite
dihydrotestosterone (DHT),
the external genitalia develop
into the female phenotype.
• In the absence of 5α-
reductase, the internal
Wolffian ducts are preserved,
but the external structures are
feminized.

ABERRANT GENDER DEVELOPMENT
Incidence
In the Americas and Western Europe, congenital
adrenal hyperplasia (CAH) is the most common cause
of neonatal ambiguous genitalia, accounting for
approximately 70% of cases.
Mixed gonadal dysgenesis is the next most common
intersex disorder, with ovotesticular DSD (true
hermaphroditism) being the third most common.
It is estimated that the overall incidence of DSDs is 1
in 4,500–5,500 live births.
Currently, many countries screen newborn for CAH by
using a spot serum sample for 17-
hydroxyprogesterone measurements.

Classification
Until recently, the most commonly used classification
system was the one proposed by Allen in 1976 and was
based primarily on gonadal histology.
A newer classification released by the International
Consensus Conference on Intersex has largely
replaced Allen’s system.
The five categories are based primarily on gonadal histology:
1. Female pseudohermaphrodite (ovarian tissue only)
2. Male pseudohermaphrodite (testicular tissue only)
3. True hermaphrodite (both ovarian and testicular tissues)
4. Mixed gonadal dysgenesis
(testicular tissue and a streak gonad)
5. Pure gonadal dysgenesis (two streak gonads)

Classification
In 2006, the Lawson Wilkins Pediatric
Endocrine Society (LWPES) and the European
Society for Pediatric Endocrinology (ESPE)
published proposed changes to the previously
used nomenclature and definitions of disorders
in which the development of chromosomal,
gonadal, or phenotypic sex is atypical.
The LWPES-ESPE terminology mainly reflects
the chromosomal sex and the gonadal
tissue associated with the disorder.

Classification
• The previous terminology and the revised
LWPES-ESPE nomenclature are compared
below.
ClassicCurrent
Female pseudohermaphrodite46,XX DSD
Male pseudohermaphrodite46,XY DSD
True hermaphroditeOvotesticular DSD
Mixed gonadal dysgenesis45,X0/46,XY Mixed gonadal
dysgenesis (MGD)
Pure gonadal dysgenesis
(common form)
46,XX Complete gonadal
dysgenesis

Findings in a newborn suggesting the possibility of DSD
(the American Academy of Pediatrics)
 A male appearance with associated abnormalities
of genitalia including:
– Severe hypospadias with bifid scrotum
– Undescended testis/testes with hypospadias
– Bilateral non-palpable testes
– Micropenis with chordee.
 A female appearance with associated
abnormalities of genitalia including:
– Enlarged clitoris
– Posterior labial fusion
– An inguinal/labial mass.

The term hermaphroditism, was used after the Greek god of
sexuality Hermes and the goddess of love and sexuality,
Aphrodite.
The correct technical definition of a hermaphrodite is a single
organism that has complete sets of both male and female sexual
organs.
The nomenclatures such as ‘intersex’, ‘hermaphrodite’,
and ‘pseudohermaphrodite’ are no longer used.

46,XX DSD
(Female Pseudohermaphrodite)
More than 95% are due to CAH.
All patients have a 46,XX genotype and
exclusively ovarian tissue in nonpalpable
gonads.
These patients have a normal female
Müllerian ductal system with an upper
vagina, uterus, and fallopian tubes
They also have normal regression of the
Wolffian ducts.

Congenital Adrenal Hyperplasia (CAH)
virilization of external genitalia
The level of virilization is largely
dependent on the timing and magnitude of
androgen exposure to the external
genitalia.

Female pseudohermaphroditism
46,XX DSD
Causes of female pseudohemaphroditism
1- Congenital Adrenal Hyperplasia.
2- Aromatase Deficiency .
3- Administration Of Androgenic Drugs To Women
During Pregnancy.
This Occurs Primarily With The Use Of
Progesterone, Commonly Used As An Adjunct To
Assist With Fertility And In-vitro Fertilization.
4- Masculinizing Maternal Tumours .
• Virilizing Tumors Include Arrhenoblastoma, Hilar
Cell Tumor, Lipoid Cell Tumor, Ovarian Stromal
Cell Tumor, Luteoma Of Pregnancy, And
Krukenberg‘s Tumor.

Aromatase
Deficiency
Failure Of The Ovary To Synthesize Estrogen
 Mild Virilization At Birth Which Increase At Puberty
And Failed To Go Into Puberty .
 Aromatase Activity Is Expressed Mainly In :-
Ovary :- In Productive Women
Skin :- Post Menopausal Women & MALE .

PATHOPHYSIOLOGY
Virilization in CAH is due to the
inability of the adrenal gland to
form cortisol.
The precursors above the enzymatic
defect are shunted into the sex-
steroid pathways.
The lack of cortisol for negative
feedback inhibition of
adrenocorticotropic hormone
(ACTH) production by the pituitary
leaves this pathway unchecked.
Excess androgen is produced and is
responsible for the virilization.

Pathways of steroid biosynthesis
46XX DSD
(female pseudohermaphroditism)

CAH
(a) A newborn with
bilateral nonpalpable
gonads, hypospadias, and
hyperpigmentation of
labioscrotal folds.
(b) An older patient with a
non salt losing CAH male
sex assigned when newborn.
She had a normal looking
phallus but bilateral
nonpalpable gonads and
should have been studied
before sex assignment
CAH when it occurs in
males (XY chromosomes),
the result is over-
masculinization and
premature puberty.

CAH In A Female
 The most common form of CAH is 21-hydroxylase deficiency
(21-OHD), which accounts for more than 90% of CAH.
 21-OHD has been mapped to the short arm of chromosome 6.
 The variable location of the adrenal defect and relative function
of the gene results in salt-wasting and non salt-wasting forms.
 Type 1 results in virilization but no salt wasting. The gene
defect affects only the fasciculata zone of the adrenal, resulting
in blocking cortisol production. However, the gene is normally
expressed in the glomerulosa zone with preservation of
mineralocorticoid production.
 In type 2, also called the classic type, the gene abnormality
affects both adrenal zones. Salt wasting results in
dehydration or vascular collapse, and hyperkalemia develops
because of the block in mineralocorticoid production.

CAH In A Female
11β-Hydroxylase deficiency (type 3) is a less
common cause of CAH. This gene has been mapped
to the long arm of chromosome 8.
This abnormality results in virilization associated
with hypertension due to the synthetic block being
below deoxycorticosterone (DOC).
 DOC has potent mineralocorticoid function
resulting in sodium resorption, fluid overload,
hypertension, and hypokalemic acidosis.
Finally, 3β-hydroxylase deficiency (type 4) is
a rare form of CAH. It results in severe salt wasting,
and survival is unusual.
 It is the only type of CAH to occur in both genders.

 Mayer–Rokitansky–Küster–Hauser syndrome is
characterized by a 46,XX karyotype with normal female
external genitalia but a short, blind-ending vagina.
 Normal ovaries and fallopian tubes are present, but the
uterus is generally rudimentary.
 Treatment is geared toward vaginal reconstruction to allow
menses or intercourse, or both

Evaluation of a Newborn with DSD
The evaluation, diagnostic approach and
management of a newborn with DSD involves a
multidisciplinary team approach.
This team include:
– Neonatologists
– Geneticists/genetic counselor
– Pediatric endocrinologists
– Pediatric surgeons
– Social worker
– Pediatric urologist
– Psychologist

Diagnostic work-up of neonates with
ambiguous genitalia
History (family, maternal, neonatal)
• consanguinity
• Previous DSD
• Previous neonatal deaths
• Primary amenorrhoea or infertility in other family members
• Maternal exposure to androgens
• history of maternal virilization may suggest an androgen-
producing maternal tumor (arrhenoblastoma)
• Failure to thrive, vomiting, diarrhoea of the neonate
Physical examination
• Pigmentation of genital and areolar area
• Hypospadias or urogenital sinus
• Size of phallus
• Palpable and/or symmetrical gonads
• Blood pressure

Diagnosis
 MIS Is Undetectable And A Spot Serum Analysis Reveals
Elevated 17-hydroxyprogesterone.
 DOC and deoxycortisol levels also aid in determining which
enzymatic defect is present.
 The physical examination is notable for the absence of
palpable gonads and the presence of a cervix on rectal
examination.
 Also, bronzing of the skin may be noted from excess ACTH
cross-reactivity with melanocyte-stimulating hormone
receptors.
 Palpation of a gonad virtually excludes the diagnosis of
46,XX DSD.

Clinical Examination
 Assessment for palpable gonads is important, because a
palpable gonad represents a testis or ovotestis and rules out
46,XX DSD.
 If both gonads are palpable, this generally indicates 46,XY
DSD.
 One palpable gonad is generally associated with MGD or
ovotesticular DSD.
 The physical examination should include assessment for the
stigmata of Turner syndrome associated with MGD and
PGD.
 Bronzing of the areola or scrotum can suggest elevated ACTH
production in CAH.

PHYSICAL EXAMINATION
Federman’s rule
• Federman’s rule:– a gonad felt
below the inguinal ligament is a
testicle until proven otherwise

Rapid Diagnostic Algorithm
These two diagnostic criteria—presence or absence of Y
chromosome and gonadal symmetry or asymmetry—
allow the rapid, accurate assignment of a patient into
one of the four diagnostic categories with
approximately 90% accuracy.
Y Chromosome PresentY Chromosome Absent or
Abnormal
AsymmetrySymmetryAsymmetrySymmetry
46,XX/46,XY
MGD
[Mixed
gonadal
dysgenesis]
46,XY
DSD
Ovotesticular
DSD
46,XX DSD
[congenital
adrenal
hyperplasia]

The Prader Scale
Degrees of genital ambiguity can be described using the
Prader scale, which was originally devised to describe
the degree of virilization of female genitalia in CAH
Rink RC, Adams MC, Misseri R (2005) A new classification for genital ambiguity and
urogenital sinus anomalies. BJU Int 95:638–642

The Prader Scale Of Genitalia
Stage 0 Normal female genitalia.
Stage 1 Mildly enlarged clitoris, slightly reduced vaginal opening.
Stage 2 phallus being intermediate in size, small vaginal opening with
separate urethral opening. Posterior labial fusion present.
Stage 3 Further enlarged phallus than Stage 2, with single urogenital sinus
and nearly complete fusion of the labia.
Stage 4 looks more male than female, with an empty scrotum and a normal-
sized penis-like phallus. A smallurethral/vaginal opening at the base of the
shaft/phallus (hypospadias in a male).
Stage 5 This is complete male virilisation – a normally-formed penis is
present, with the urethral opening at or near the tip, and the scrotum
formed, but empty.
Stage 6 Normal male presentation of the penis with normal testes.

Clinical Evaluation Of External Genitalia
 Note the phallus length:
 A normal-term male penis is 3.5 ± 0.7 cm.
A normal-term female clitoris is less than 1.0 cm.
 Micropenis is thus defined as a stretch penile length
of less than 2.0 cm in a term male infant, and
clitoromegaly as a clitoris greater than 1.0 cm in a
term female.
 Note the position of the urethral meatus:
 Hypospadias associated with bifid scrotum or
undescended testis suggests a DSD .
If the urethral opening is at the base of the phallus, it
could be a urogenital sinus in a virilized female.
Labioscrotal folds may be separated or be fused at the
midline, giving an appearance of a scrotum.

INVESTIGATIONS
 The initial evaluation should include a karyotype or
fluorescent in situ hybridization(FISH) and (PCR) to
identify X and Y chromosomes.
 17-OH progesterone levels should be obtained after 3 or 4
days of life, by which time elevations resulting from the
stress related to birth have subsided.
 Electrolyte levels should be monitored to identify salt
wasting with CAH.
 Testosterone and DHT levels are important for evaluating
5α-reductase deficiency (the relation T/DHT with a value larger
than 10 is suspicious of deficit 5- alpha eductase enzyme).
 An elevated LH level and a low MIS level suggest testis
dysgenesis or absence.
 CORTISOL ,ACTH or hCG stimulation tests .

Preoperative Evaluation
IMAGING EVALUATION
A retrograde genitogram is performed by occluding
the opening of the urogenital sinus with the balloon of
an 8-Fr Foley catheter placed outside the meatus and
secured in place with tape. Lateral and oblique images
are then obtained. The study should be performed by
the surgeon and an experienced radiologist.
Next, the catheter should be advanced into the bladder
for a vesicoureterogram (VCUG).
Ultrasonography gives valuable information about
the urinary tract, and in most cases the uterus, vagina,
and gonads can be visualized .
magnetic resonance imaging (MRI) of the pelvis could
clearly outline the anatomy of the pelvic organs

Genitography showing vaginal morphology, dimension
and relation to the urethra. The white arrows show the
onset of the vaginal outlet in the UGS in a low variant
(a) and in an intermediate, high one (b)
Genitography is performed by occluding the perineal orifice with a balloon catheter. Contrast material is injected in a
retrograde fashion, with lateral and oblique views obtained.

Disorders of Sex Development Diagnosis and
Treatment
Surgical
Therapy
Medical
Therapy
Gende
r
Assign
ment
Physical
Examinati
on
Phenotype
Diagnostic
Features
Disease
Periopera
tive stress
steroids
Clitoral
reduction
Vaginal
exterioriz
ation
Labioscro
tal
reduction
Hydrocortis
one or
cortisone
acetate
Florinef
Embryo
selection
from
the
blastocyst
Steroid
replacement
in utero
from 6 wk
gestation
FSymmetric
gonads
Clitoral
hypertrophy
Sinogram:
UG sinus
defect
Enlarged
labioscrotu
m
Karyotype 46,XX
Electrolytes: K
high, Na low
Androgen
high
17-
hydroxyprogester
one high MIS 0
Sequence CYP21
Chromosomal
FISH
46,XX DSD
(Overandro
genized
Female)
Congenital
adrenal
hyperplasia
(adrenogen
ital
syndrome)

Medical Management
46,XX DSD (CAH)
Prenatal diagnosis and treatment are now available.
Dexamethasone treatment, if used to suppress
masculinization in utero, is initiated by the fifth or
sixth week of gestation before the start of sexual
differentiation. Dexamethasone crosses the placenta
to suppress the fetal adrenal gland and decrease fetal
androgen production, thereby minimizing in utero
virilization.
Postnatally, cortisol replacement with hydrocortisone
is the mainstay of therapy, with the addition of
fluorohydrocortisone if salt wasting is present.
Supportive management of fluid and electrolyte
abnormalities is best provided in a neonatal intensive
care unit.

Medical Management 46,XX DSD (CAH)
Glucocorticoid replacement as oral
hydrocortisone 8 to 10 mg/m2 per day in two or
three doses or cortisone acetate 25 mg/m2
injected every 3 days will prevent serious
metabolic abnormalities associated with acute
adrenal insufficiency.
Fludrocortisone (9a-fluorocortisol) 0.05 to 0.2
mg/day is started in severely virilized infants
and in those less virilized with a family history of
salt wasting as part of 46,XX DSD (CAH).
 In adrenal crisis are treated with 25 mg
hydrocortisone sodium succinate (2 mg/kg),
whereas older children receive 50 to 100mg.

Reconstruction for Female
Gender Assignment
All 46,XX DSD newborns should be
assigned to the female Gender.
Similar repairs can be used for
selected patients who are not severely
masculinized because of 46,XY DSD,
MGD, or ovotesticular DSD.

Laparoscopy
Laparoscopy provides excellent visualization
of the pelvic structures and may play an
important role in those cases that need a
gonadal biopsy or gonadectomy.
It can also be helpful for identification or
removal of mullerian structures.
Also, laparoscopy can be used to perform
other procedures such as a laparoscopic-
assisted sigmoid vaginoplasty.

Planning and Timing the Surgical
Reconstruction
The newer techniques result in an improved cosmetic
appearance, achieve a reduced complication rate, and
are more likely to preserve sensation; however, long-
term studies are required to evaluate the outcomes of
these procedures.
Patients with a low-confluence urogenital sinus
can be operated once their metabolic management
is well controlled; in most cases we undertake an
elective reconstruction at 3 to 6 months of age.
 Patients with a midlevel or high confluence can
be electively repaired at 9 to 12 months of age.

Feminizing Genitoplasty
Planning of the surgical reconstruction should
incorporate the three components of a
feminizing genitoplasty, in which the
prepuce is used to create labia minora, the
clitoris is reduced with preservation of
sensation, and the labioscrotal swellings
are used to fashion female-appearing labia
majora and to enhance the vaginoplasty.

Preoperative Preparation
 It is important to prepare the bowel adequately before
repair. For low repairs, magnesium citrate should be given
2 days before repair.
 For high repairs, (MOVIPREP)a polyethylene glycol
isotonic solution, is administered by mouth beginning 3
days before surgery for 2 consecutive days, followed by
magnesium citrate 1 day before surgery.
 Oral administration of neomycin plus erythromycin can be
used to reduce bacterial concentration.
 Preoperatively, it is important to ensure that the patient is
metabolically stable, particularly a child with CAH.
 Children with CAH should receive “stress dose” steroid
replacement at the time of surgery.

Surgical Reconstruction
PANENDOSCOPY
 Each reconstructive procedure is
preceded by a panendoscopy using a
pediatric cystoscope with 0- and 30-
degree optics.
 After passing a Fogarty catheter into the
vagina, the balloon is inflated and the
catheter is clamped and left indwelling.
 A Foley catheter is then anchored in the
bladder.
A Fogarty catheter is
placed into the vagina
and a Foley catheter into
the bladder ( a ) high
UGS, ( b ) low UGS

Clitoroplasty
It must be remembered that the clitoris is a
sexual organ so every effort is made to preserve
clitoral sensation and function.
The operation begins with placement of a
traction suture in the glans clitoris.
Proposed incisions are outlined with a skin
scribe and injected with 0.5 % lidocaine with
1:200,000 epinephrine subcutaneously .
 The entire clitoris is degloved along the plane
between the Buck fascia and the Dartos
circumferentially. Ventrally, the incision is
carried around the UGS

Clitoroplasty
Circumferential nerves
branches coming from the
dorsal neurovascular
encircling the clitoral shaft
toward the ventrum. Vertical
incisions outlined on each
side of the urethral plate for
the excision of the erectile
tissue.
Kogan described a subtunical
excision of the erectile tissue, which led
to newer nerve-sparing techniques.
 Baskin and colleagues (1999)
found that distribution of the sensory
nerves of the clitoris is similar to the
sensory nerves of the penis;
circumferential branches from the
dorsal neurovascular bundle encircle
the clitoral shaft toward the ventrum,
thus making a ventral approach to the
corpora most likely to avoid nerve
injury (Fig.).

Studies of Baskin et al
(1999) would suggest
that any glans excision
should be performed
ventrally near the
midline (similar glans
wings).
The glans is innervated
by perforating
branches entering at
the dorsal junction
of the glans and
corpora (Baskin et
al, 1999).

In Baskin’s Technique Corporal Tissue Proximal To The
Bifurcation Is Left Intact.
Excision of glanular
epithelium to conceal the glans
is to be avoided because the
sensory neuropeptides are
located just beneath this layer.
Furthermore, no data suggest
that a large glans is detrimental
to sexual function.
The glans is then sewn to the
bifurcation of the corporal
bodies.
A glans sewn to the pubis
results in an abnormally high
prominent position (Rink and
Yerkes, 2001).

Clitoroplasty The dorsal mucosal collar
should cover the glans
partially, giving it a hooded
appearance
The tunics are left
undisturbed, except for the
ventral incision.
 No tunical tissue is
excised.
The dorsal neurovascular
bundle should not be
mobilized or disturbed in
any way.

Clitoroplasty
The redundant dorsal tunica
albuginea and neurovascular
bundle are placed in a
subcutaneous pocket above
the pubic bone, folded
without impairing the
neurovascular supply, and its
lateral edges are sutured to
the adjacent periosteum of
the pubis.
The reduced clitoral shaft is
covered with surrounding fat
tissue, thus fashioning a
normal-looking mons
pubis. Vertical ventral midline incision
made along the entire lenght of
each corporal body ( a , b

Vaginal reconstruction techniques
I. The cut-back vaginoplasty is rarely used and is
appropriate for only simple labial fusion.
II. The flap vaginoplasty is applicable to a low (distal)
vaginal confluence. In this procedure, the posterior walls of
the sinus and vagina are opened, but the anterior wall of the
vagina is left intact.
III. The pullthrough vaginoplasty is used for a very high
confluence
IV. Total and partial urogenital mobilization (TUM and
PUM)
V. Complete vaginal replacement can be achieved by
several techniques, but it is used only for a rudimentary or
absent vagina.

Vaginoplasty
 Almost every vaginal repair
today uses a posteriorly based
perineal flap originally
described by Fortunoff and
coworkers in 1964.
 This wide-based Fortunoff
flap has recently been
modified to a more omega-
shaped flap that has resulted
in improved cosmesis (Jenak
et al, 2001; Freitas-Filho et al,
2003).

The vaginal walls to reach the perineum may
be constructed using a combination of inverted
U cutaneous flap (Fortunoff), prepucial flap
(Gonzalez), redundant tissue from the UGS
(Passerini flap).

Low Vaginal Confluence
FLAP VAGINOPLASTY
The vast majority of children who undergo surgery
for intersex a low vaginal confluence amenable to
flap vaginoplasty.

FLAP VAGINOPLASTY
 The previously outlined omega flap is incised, and the
underlying fat is mobilized with the flap to expose the
urogenital sinus.
 It is critical to divide the bulbospongiosus muscle
and sweep the rectum posteriorly in order to expose
the entire posterior wall of the vagina.
 the posterior wall of the sinus is opened in the midline and
extended proximally into the posterior wall of the vagina.
 The posterior wall incision must be carried
proximally until normal-caliber vagina is
encountered.
 Sutures are placed individually through the perineal flap
and then through the split posterior wall of the vagina .

Flap vaginoplasty
The dissection of the anterior wall of the vagina from the
urethra and bladder neck is the most difficult part of the
procedure. With the vagina separated from the urethra and
sinus, the opened UGS is closed in layers over a Foley catheter
to create a urethra.

Vaginoplasty
The phallic skin is unfurled and divided longitudinally
in the midline while stopping short of the base to
allow a clitoral hood.

FLAP VAGINOPLASTY
 Labia minora are now
created with this split
preputial skin, which is
moved inferiorly and
anastomosed to the
preserved ventral plate and
the lateral vaginal wall.
 The labia are mobilized and
secured inferiorly alongside
the vagina as a Y-V–plasty.

High Vaginal Confluence
Rink and colleagues proposed a posterior prone
approach, which provides excellent exposure.
Preparation, endoscopy, and catheter placement are
the same as for flap vaginoplasty.
The perineal omega-shaped flap incision is made
and then the flap is retracted posteriorly, with
dissection now carried out in the midline between
the posterior wall of the sinus/vagina and rectum.
The child with a pure UGS and no ambiguity is
initially placed prone.

Pull-through” vaginoplasty
As dissection proceeds proximally, the rectum
is easily retracted with a small Deaver
retractor to expose the entire urogenital sinus.
The entire length of the sinus may be divided
in the midline posteriorly to the normal
caliber of the vagina. The Deaver retractor
is now placed in the vagina and with upward
retraction easily exposes the anterior wall of
the vagina at its confluence with the sinus.
This allows dissection of the vagina from the
urethra under direct vision .

A, Posterior flap developed with the sinus
exposed. B, Sinus opened in the posterior
midline. C, Retractor in the vagina

A, Vagina mobilized and the sinu tubularized
to create a urethra.
B, Posterior vagina spatulated.

Excellent vision is also provided for
tubularization of the sinus to create a urethra,
which is closed in two or three layers over a
Foley catheter.
“Pull-through” vaginoplasty is often a
misnomer because frequently the separated
vagina will not reach the perineum.
In this situation, skin flaps have been used to
reach up to the vagina (rather than the vagina
“pulled through” to the perineum).
• Preputial skin may be sewn to the spatulated
anterior vagina, as described by Gonzales and
Fernandes (1990).

Modified Gonzalez preputial flap to create an
anterior vaginal wall; the posterior flap has
been anastomosed to the spatulated vagina

Passerini-Glazel (1989)
Passerini-Glazel (1989) used the mobilized
sinus by dividing it dorsally; with the
phallic skin and folded back toward the
vagina, it would create a more normal
cosmetic result and provide excellent
coverage in the area of the vaginal
separation.
He later used this as a flap to form the anterior
vaginal wall rather than completely
tubularizing it (Passerini-Glazel, 1994).

A buttocks- or labial-based flap may be used to create the
anterior vaginal wall in a patient with a pure urogenital sinus
When preputial skin is not available, a buttock flap or a
laterally based skin flap can be used (Parrott and
Woodard, 1991; Dumanian and Donahoe, 1992)

Labioplasty.
A, Phallic skin unfurled.
B, Preputial skin split and used to create the labia minora;
proposed labia majora Y-V–plasty
. (From Rink RC, Adams MC: Feminizing genitoplasty: State of the art. World J Urol 1998;16:212).

Labioplasty
Split prepuce used to create labia
minora; labia majora Y-V-plasty;
and flap vaginoplasty.
labioscrotal fold.
Bilateral Y-V advancement of the labia
majora. The flaps are moved
posteriorly, beside the introitus to
enhance the vaginoplasty. The medial
aspects of the skin flaps are sutured to
the lateral edges of the preputial skin
mobilized during clitoroplasty

UROGENITAL SINUS ANOMALIES
UGS anomalies occur most commonly in association
with congenital adrenal hyperplasia (CAH), but pure
UGS anomalies without clitoromegaly or
endocrinologic abnormalities also occur

Diagrammatic representation
of urogenital sinus showing
high insertion of the vaginal
opening into the urogenital
sinus. Note the point of entry
above the sphincter
Diagrammatic representation
of urogenital sinus showing
low insertion of the vaginal
opening into the urogenital
sinus. Note the point of entry
below the sphincter
UROGENITAL SINUS ANOMALIES

Total and Partial Urogenital Mobilization
 In 1997, Alberto Pena proposed a maneuver
called total urogenital mobilization (TUM)
as a means to repair the urogenital sinus
component of a cloacal repair.
 In this procedure, the entire sinus is
dissected circumferentially and mobilized
toward the perineum.
 Rink and Adams (1999) reported using the
mobilized sinus to provide a mucosa-lined
vestibule or a Passerini flap to cover the
anterior vaginal wall when a pull-through
procedure is performed.
 Jenak et al (2001) have since reported similar
use of the mobilized sinus to create a mucosal
vestibule, and Hamza et al (2001) stated that
the sinus may be used as a Passerini-like flap.

Total urogenital
mobilization.
Partial urogenital
mobilization.
Partial urogenital mobilization circumferentially mobilizes the sinus to the level
of the pubourethral ligament but does not extend above this level.

Total urogenital mobilization. A, The sinus is split
ventrally to create a mucosa-lined vestibule in the flap
vaginoplasty. B, The sinus is split dorsally to create an
anterior vaginal wall for pull-through vaginoplasty.
(From Rink RC: Journal of Pediatric Urology 2006.

Total urogenital mobilization with the sinus
mobilized.
A ventral incision on the mobilized sinus allows the
creation of a mucosa-lined vestibule

The sinus is split dorsally to create an anterior vaginal
wall for pull-through vaginoplasty.

 The posterior wall of the vagina is opened near the confluence
If the vagina reaches the perineum, the UGS is opened
ventrally and the redundant tissue is used to create a mucosa-
lined vestibule .
 If the vagina is still too high, the patient is turned prone and
the anterior wall of the vagina is separated from the urinary
tract.
 The opening in the sinus is closed to create the urethra. The
excess mobilized sinus in this situation is divided dorsally to
create a Passerini flap for the anterior vaginal wall .
 If the sinus is opened laterally, the tissue can be rotated
inferiorly to form the posterior wall of the vagina, minimizing
the need for the perineal flap .

Total and Partial Urogenital
Mobilization

Use of excess sinus after TUM o
PUM.
Sinus may be split ventrally to create
a mucosa-lined vestibule (A and B),
dorsally to create a Passerini flap for
the vaginoplasty (C), or laterally to
complete the vaginoplasty (D).

 There have been two recent
descriptions of use of the mobilized
sinus to replace the posterior
perineal-based skin flap with a
sinus flap.
 In one, the sinus is split laterally
and rotated posteriorly (Rink and
Cain, 2002).
 In the other, the sinus is split in
half longitudinally and the two
halves are rotated inferiorly
(Gosalbez et al, 2005).

Vaginoplasty in case of insufficient vaginal length to reach the
perineum. A lateral incision helps completing the vaginoplasty
( a ). The incised sinus is then rotated in a spiral fashion to
extend the vagina ( b )

The incised sinus is rotated in a spiral
fashion to extend the vagina (E and F).

The opened sinus now becomes the
anterior vaginal wall.

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