STASE TUR MARET 2016

dr. Annisa
dr. Maria
dr. Agni
dr. Agnita
Dr.Chery

AMBIGOUS GENITALIA
PEMBIMBING: DR.TITIK YULIASTUTI
SP.RAD

Identitas

Pasien : An.Miftah Tamami

Umur : 2 bulan
RM : C 575044
Alamat :Mranggen

Anamnesis
Alloanamnesis dengan Ibu Pasien
Sejak lahir pasien kencing lewat lubang
yang berada di bawah penis, bentuk
menyerupai vagina,letaknya sebelum
rektum, penis tidak berkembang.

Pemeriksaan Fisik

Pemeriksaan Fisik

Penis tidak berkembang. Terdapat

testis (pada pemeriksaan USG
terdapat hernia scrotalis) Terdapat
lubang seperti vagina di bawah
penis tempat keluar kencing

Pemeriksaan Penunjang
USG Testis tanggal 4 Maret 2016:
Gambaran Hernia Scrotalis kanan kiri
Terdapat struktur testis pada regio
scrotalis kanan kiri dengan parenkim
normal (volume kanan 0,25cc,kiri 0,22 cc)

USG TESTIS

USG TESTIS

USG TESTIS

USG TESTIS

USG TESTIS

USG TESTIS

USG TESTIS

Genitograf

Track kontras tampak mengisi struktur

ovoid yang menyerupai vagina yang
terletak di posterior vesica urinaria
mendukung gambaran ambigous
genitalia
Tak tampak aliran kontras mengisi uretra
maskulina sampai OUE maupun anus

Genitograf

Genitograf

Genitograf

Genitograf

Genitograf

Genitograf

Persiapan

Pasien buang air kecil untuk

mengosongkan kandung kemih
Pasien tidur supine di atas meja
pemeriksaan

Tehnik pemeriksaan

Pasien berbaring supine di meja

pemeriksaan
Membuat foto polos pada daerah rongga
pelvis
Pasien diatur pada posisi litothomi,pantat
pasien diberi alas duk steril
Membersihkan daerah genitalia luar
dengan betadine,tutup dengan duk
lobang steril

Tehnik pemeriksaan

Pasang kateter dengan memasukkannya tidak

terlalu dalam (1-2cm) pada lubang saluran
yang terlihat uretra
Dengan dipandu fluoroskopi,memasukkan
kontras water soluble (10-15 cc) ke dalam
kateter untuk mengetahui muara dari saluran
tersebut
Bila kateter masuk vagina,hal ini akan
memperlihatkan hubungan dengan uretra dan
ada tidaknya cervix uteri,uterus dan tuba falopii

Tehnik pemeriksaan

Bila kateter masuk ke kandung kemih,dapat

dilakukan pemeriksaan micturiting
cystouretrografi untuk memperlihatkan uretra
Pada kasus malformasi kompleks dapat
digunakan dua kateter atau lebih
Foto dibuat pada posisi AP,Lateral dan Oblique
Pemeriksaan ini dapat dikombinasikan dengan
pemeriksaan Barium Enema bila diperlukan

Ambigous Genitalia

It is the role of the radiologist to assist

the primary physician in assigning the
correct gender to the neonate and to
anticipate and diagnose any lifethreatening conditions related to intersex
states.

Pemeriksaan Penunjang

USG
chromosomal analyses
Genitography
MRI
Urinary hormones & possible gonadal
biopsy

The four major types of intersex

abnormalities

female pseudohermaphroditism
male pseudohermaphroditism
gonadal dysgenesis
true hermaphroditism

Female pseudohermaphrodites

genetically female
have a uterus and ovaries, but have masculinized
external genitalia.
The most common cause is congenital
adrenal hyperplasia (21-hydroxylase deficiency
accounts 95% of affected patients).The enzymatic
defect leads to adrenal production of androgens,
which result in clitoromegaly (simulating a penis),
labial fusion, and swelling.
US clearly shows a uterus and ovaries
Genitography shows a urogenital sinus

Male
pseudohermaphrodites

genetically male (with testes present), but

have female external genitalia.
The cause is either decreased production of
androgens by the testes or
unresponsiveness of the end organs to
the normal androgens produced (testicular
feminization syndrome).
US reveals normal-appearing testes if they
are descended and confirms the absence of
a uterus and ovaries

Gonadal dysgenesis

defined by the patient having at least one

streak gonad, a primitive structure that does
not function normally. It is often difficult to find
by imaging and is at increased risk of
malignancy.
The diagnosis is suspected in cases of
ambiguous genitalia when only one testis is
palpated within the scrotal sac.
Imaging includes US, VCUG or genitography,
and perhaps MRI at a later time

True hermaphrodites

have ovarian and testicular tissue

present, sometimes fused into a solitary
ovotestis.
Internal and external anatomy varies,
and the diagnosis is based on gonadal
biopsy results.
US shows a uterus if it is present, and
VCUG or genitography is often
employed.

Diagnosis Banding Ambigous Genitalia

Female Pseudo Hermaprodite

Genitograf female infants with adrenogenital syndrome

showing different degrees of masculinization of the lower
urogenital tract.

the most common appearance of the lower urogenital tract in adrenogenital syndrome.
A well-developed vagina with a well-defined impression of the uterine cervix on the
vaginal vault (arrow) joins the distal end of the urethra to form a long common sinus
tract (urogenital sinus) that ends in the perineum at the base of a prominent phallus.
Barium paste was applied on the perineum to show the distance between the vagina
and perineum.

Genitograf female infants with adrenogenital syndrome showing

different degrees of masculinization of the lower urogenital tract.

well-developed vagina with opacification of the uterine canal (upper arrow) joining
the urethra near the perineum to form an ultrashort urogenital sinus (lower arrow).
An enlarged clitoris, posterior fusion of the labia, and a single perineal
opening were the only external signs of the disorder, which caused only mild
virilization. (At the opposite end of the spectrum are more severely masculinized
patients with a phallic urethra.)

VCUG in a child with male pseudohermaphroditism

incomplete testicular feminization syndrome with a predominantly female

phenotype shows a normal female urethra and retrograde opacification of a
short, blind-ending vaginal pouch in the perineum behind the urethra (perineal
pseudovagina, arrow). The seminal ducts (not shown) may end in this vaginal
pouch. A similar configuration is seen in complete testicular feminization
syndrome and in patients with 5a-reductase deficiency.

incomplete testicular feminization

syndrome with a predominantly
female phenotype shows a normal
female urethra and retrograde
opacifcation of a short, blind-ending
vaginal pouch in the perineum
behind the urethra (perineal
pseudovagina, arrow). The seminal
ducts (not shown) may end in this
vaginal pouch. A similar
confguration is seen in complete
testicular feminization syndrome
and in patients with 5a-reductase
defciency.

A retrograde urethrogram shows a urogenital sinus and a small vagina without a

cervical imprint.

Genitogram male infants with severe hypospadias (perineal and

scrotoperineal), bilateral cryptorchidism, small penis, and unfused
scrotal folds

show opacification of a utricle or blind vaginal pouch (very short ) connected with
the distal end of the posterior urethra. Note spermatic ducts emptying in the
utricle in C (arrows). A short male urethra (or urogenital sinus) also is visualized.
The clinical and radiographic findings in this patient an intersex disorder
specifically, a form of male pseudohermaphroditism.

Uretrogram male infants with severe hypospadias (perineal and

scrotoperineal), bilateral cryptorchidism, small penis, and unfused
scrotal folds

show opacification of a utricle or blind vaginal pouch (very large) connected

with the distal end of the posterior urethra. A short male urethra (or urogenital
sinus) also is visualized in both patients. The clinical and radiographic findings
in both patients suggest an intersex disorder specifically, a form of male
pseudohermaphroditism.

TERIMA KASIH
MOHON ASUPAN DAN SARAN