PLENARY DISCUSSION

By : 26 D
1st SCENE
Ambi Didnt Want To Go To School

Members :
Yulia Efni
Melly Anggriani
Lubis
Akbar
Benitya
Hanifah Arani
Aiwi Japanesa
Septriana Putri
Riri Agsari
Fauzul Nurul Azmi
Ade Satria Apriadi

SCENE
When implementing guidance to medical students, the
doctor on duty at Dr. M. Djamil hospital examines and
discusses Ambi who was referred from the clinic with
undescended left testicle and ambiguous genitalial. The
current seven-year-old patient, the parents are confused
about their gender when they will make a birth certificate.
At new birth, doctor clinic recommends not to determine
the sex before clear.
Historically, Ambi born spontaneously with 3500 grams ,
no other problems since born. Currently, mother nurturing
ambi as a boy and his son did not want to, feel ashamed to
squat when pissing. On physical examination, Ambi looked
healthy, no other dysmorphic looked, same body size with
children the same age, vital signs within normal limits.

In the urogenital region seen the scrotum bifidum,
mikrofalus, chordae, and hipospadia. Palpable right scrotal
gonad with 2 mL volume, and empty in left scrotal. As an
initial measure, the doctor explained to the mother about
the plans for chromosome analysis, genitography, the
possibility of sex rearing and reconstruction surgery.
Once finished serving patients, physicians also a precept
that asks students: as a primary care doctor how they
explain to the parents about the possible diagnose and
management will be done to Ambi.
How do you explain what happened to Ambi?
TERMINOLOGY
1. Ambigous genitalial : external genitalial
couldnt be determined yet soon after birth.
2. Undescended testicle sinistra : Left testicle
didnt down to scrotum
3. Scrotum bifidum : Scrotum has separated
into two parts because right and left scrotum
didnt fuse.
4. Microphalus : Penis size smaller 2,5 cm SD.
Its due to decrease of androgen.

Terminology......
5. Chordae : Bending of the penis toward
the ventral position because the
connective tissue on the dorsal is too
much.
6. Hipospadia : External urethral meatus
isnt in the end of the penis gland.
7. Genitografi : Radiological examination to
see the internal genitalial.
8. Sex rearing : Directing process to a
specific sex by the doctors
Indentify the Problem
1. Why did the confusion of Ambis parents just
happened when their child has been 7 years
old?
2. Why did undescended testicle happen?
3. Why didnt the doctor determine the sex of
Ambi when this kid just born?
4. Why did ambigous genitalial happen?
5. Hows the interpretation of the physical
examination
6. Why didnt ambigous genitalial affect to the
loabor and Ambi still born spontaneously?
Indentify the problem....
7. Why did scrotum bifidum, microphalus,
chordae and hipospadia happen?
8. Hows the interpretation of Ambis
scrotum examination
9. Why do the chromosomal analysis and
genitography needs to be done? And
how to do it?
10.How to do sex rearing?
11.Why do the reconstruction surgery
needs to be done?

Indentify the problem....
12.What happen if Ambi doesnt treated?
13.What are the other congenital
genitalial disorders that you know?
Analyze the Problem
1. Because it needs to make the identity and
Ambi started to be shame to his friends.
2. Theories:
a. Abnormality of testicle gubernaculum
b. Abnormality of cremaster muscle
c. Unsensitivity of testicle to the gonadotrophin
stimulus
3. Because in common cases, testicle will be
coming down in 1 year.
4. Hormonal imbalance when Ambis mother
pregnant. Its also do to genetical mutation of
autosomal and gonosomal chromosom.
Analyze the problem....
5. Physical examination result was normal but
in the urogenital region.
6. Ambigous genitalil didnt affect to
development of another organ and the
labor.
7. Embriological problem when the mother
prenant.
8. Microphalus : maybe the development and
deferentiation of the penis is not good
Chaodae : Connective tissue in dorsum penis
is abnormal
Analyze the problem....
9. Chomosom analysis : to determine the exact
chromosom of Ambi
Genitography : To identify internal genitalial
of Ambi
10.Sex rearing : Directing process to a specific
sex by the doctors
11.To give the exact external genitalial for Abi
based on chromosomal analysis, internal
genitalial and other consideration
Analyze the problem....
12. Hell be shame of his condition and
the undescended testicle has high
possibility to be malignancy
13.Torsio testicle : sexual dysfunction
Infertility : psychological problem
Scheme
Refferal Treatment Complication
Diagnose
Additional Examination
Physical Examination
Pathophysiology
Anamnesis
Classification
Etiology
Ambi
Learning Objective
Students can explain about :
1. Embriology of genitourinary system
2. Clasification and epidemiology of
genitourinary disorders
3. Etiology and risk factors of
genitourinary disorders
4. Pathophysiology of genitourinary
disorders
5. Clinical features of genitourinary
disorders
Learning Objective...
6. Diagnose, physical examination,
additional examination, and diffrential
diagnose of genitourinary disorders
7. Treatment of genitourinary disorders
8. Complication and prognose of
genitourinary disorders
9. Refferal case
Development of Male and
Female Genitalial System
Development of genital system
Genetic sex is established at
fertilization by the kind of
sperm that fertilizes the ovum
The gonads begin to attain
sexual characteristics from 7th
week.
Early genital systems in two
sexes are similar; this initial
period is called indifferent
state of sexual development
Genital System
Gonads (primitive sex
glands)
Genital ducts
External genitalia

ndifferent stage
Development of gonads (testes and
ovaries)
The mesothelium
(mesodermal epithelium)
lining the posterior
abdominal wall
The underlying
mesenchyme (embryonic
connective tissue)
The primordial germ cells
Indifferent gonads
During the 5th week a thickened
area of mesothelium develops
on the medial side of the
mesonephros: a pair of
gonadal(genital) ridges
Finger-like epithelial cords
(gonadal cords) grow into the
underlying mesenchyme
The indifferent gonad now
consists of an external cortex
and an internal medulla.
If the embryo is XX: cortex will
differentiate into an ovary,
medulla regress
If the embryo is XY medulla
differentiates into a testis, cortex
regress except for vestigial
remnants
Primordial germ cells
Large spherical sex cells are
visible early in the 4th week
among the endodermal cells of
the yolk sac near the origin of
the allantois
During folding of the embryo
dorsal part of the yolksac is
incorporated into embryo
Thus the primordial germ cells
migrate along the dorsal
mesentery of the hindgut to the
gonadal ridges
During 6th week primordial
germ cells enter the underlying
mesenchyme and are
incorporated in the gonadal
cords.

Sex determination
Chromosomal and genetic sex is
established at fertilization
The type of gonads that develop is
determined by the sex chromosome
complex of the embryo (XX or XY)
Before 7th week gonads of 2 sexes
are identical (indifferent gonads)
Male phenotype requires Y
chromosome (SRY-sex determining
region on Y gene) for a testis
determining factor-TDF.
Female phenotype requires two X
chromosomes with a number of
genes
The Y chromosome has a testis
determining effect on the medulla
of indifferent cords . TDF (regulated
by Y chrom) differentiate the
gonadal cords into primordia of
seminiferous tubules
Absence of a Y chromosome (XX
sex chrom) results in the formation
of the ovary
Types of present gonads
determines the type of sexual
differentiation of the genital ducts
and external genitalia.
Testosterone produced by the fetal
testes determines maleness.
Primary female sexual
differentiation does not depend on
hormones; occurs even if the
ovaries are absent (depending
possibly on an autosomal gene)
Development of testes
TDF induces the gonadal cords (seminiferous cords) to condense and
extend into the medulla of the indifferent gonad; where they branch and
anastamose to form the rete testis.
A dense layer of fibrous CT (tunica albuginea) separates the testis cords
from the surface epithelium
In the 4th month testis cords become horseshoe shaped; their
extremities are continous with those of the rete testis
Testis cords are now composed of primitive germ cells and sustentacular
cells of Sertoli derived from the surface epithelium of the gland
Development of ovaries
Gonadal development occurs slowly in female
In XX embryo primitive sex cords dissociate into irregular cell
clusters containing groups of primitive germ cells in the medullary
part of ovary
Later they disappear and are replaced by a vascular stroma thet
forms the ovarian medulla
CONGENITAL KIDNEY
more frequently than in any other organ
many cause impairment of renal function
association with other renal and extrarenal congenital anomalies
AGENESIS
bilateral extremely rare; children do not survive; prenatal
suspicion oligohydramnios (US)
unilateral no symptoms; cystoscopy ureteral ridge absent, no
orifice visualized; definitive diagnosis isotope studies, US, CT
HYPOPLASIA
small kidney, smtm dysplastic; the other maybe larger than normal
observed in infants with fetal alcohol syndrome or in utero cocaine
exposure
CONGENITAL KIDNEY
differentiation acquired atrophy (atrophic pyelonephritis, VUR,
stenosis of the renal artery)
associated with hypertension nephrectomy
ADULT POLYCYSTIC KIDNEY DISEASE
autosomal dominant hereditary condition; almost always bilateral
(95%)
in infants autosomal recessive disease; short life expectancy
cysts of the liver, spleen and pancreas
Etiology & Pathogenesis
defects in the development of the collecting and uriniferous
tubules and in the mechanism of their joining blind secretory
tubules connected to functioning glomeruli cysts enlarge &
compress adjacent parenchyma destroy it by ischemia and
occlude normal tubules progressive functional impairment
CONGENITAL KIDNEY
Symptoms
pain (drag on the vascular pedicles by the
heavy kidneys, obstruction, infection,
hemorrhage into a cyst)
gross or microscopic total hematuria
colic (blood clots or stones)
abdominal mass
infection (chills, fever, renal pain)
renal insufficiency (headache, nausea,
vomiting, weakness, loss of weight)
Signs
palpable kidneys (nodular, tender if infected)
hypertension ( 60-70%)
fever (pyelonephritis or infected cysts)
CONGENITAL KIDNEY
uremia (anemia, loss of weight)
Laboratory
anemia (chronic loss of blood or hematopoietic depression of
uremia)
proteinuria and hematuria; pyuria and bacteriuria
progressive creatinine clearance
US multiple transsonic images, large renal size
CT extremely accurate (95%) for diagnosis multiple thin-walled
cysts filled with fluid, large renal size
CONGENITAL KIDNEY
Differential Diagnosis
bilateral hydronephrosis
bilateral renal tumor
von Hippel-Lindau disease (angiomatous cerebellar cyst, angiomatosis of
the retina, tumors or cysts of the pancreas, multiple bilateral cysts or
adenocarcinomas of both kidneys)
tuberous sclerosis (convulsive seizures, mental retardation, adenoma
sebaceum, hamartomatous tumors of the skin, brain, retinas, bones, liver, heart,
and kidneys)
simple cyst
Complications
pyelonephritis
infection of cysts
severe gross hematuria
CONGENITAL KIDNEY
Treatment
General Measures: low-protein diet (0.5-0.75 g/kg/d), fluids ( 3 L/d),
reasonable physical activity, treatment of uremia (hemodialysis),
control of hypertension
Surgery: a large cyst compressing the upper ureter (obstruction and
impairment of renal function) resected or aspirated; renal
insufficiency chronic dialysis or renal transplantation
Treatment of Complications: pyelonephritis; infection of cysts
surgical or percutaneous drainage; severe bleeding nephrectomy
or selective embolization
Prognosis
children very poor
clinical signs and symptoms after age 35-40 more favorable
Failure of one or both of the testes to
descend from abdominal cavity to the
scrotum
Etiology and Pathophysiology
Testes usually descend into the scrotal sac
during the 7-9 month gestation
They may descend anytime up to 6 weeks
after birth. Rarely descend after that time.
Cause unknown
Theories
Inadequate length of spermatic vessels
Lowered testosterone levels
Answer:
The higher temperatures in the
abdomen than in the scrotum results in
morphologic changes to the testis
mainly concerned with lower sperm
counts at sexual maturity.
Assessment
Palpate the testes separately between thumb and
forefinger, with thumb and forefinger of other
hand over the inguinal canal.
Therapeutic Interventions
Treatment
early (8-12 months) risk of infertility, malignancy (10-46) and
testicular torsion
hormonal treatment induction of testicular descent and
stimulation of germ cell maturation and proliferation
hCG
GnRH (Kryptokur) nasal spray 1.2 mg/d,28 d, followed by hCG
1,500 IU/wk, 3 wks
LHRH analog (Buserelin) nasal spray
early orchidopexy ( 1 year)
postpubertal orchiectomy
Hypospadias
Congenital urethral defect in which
the uretheral opening is on the
lower aspect of the penis and not
on the tip.

Epispadias
Congenital urethral defect in which the
uretheral opening is on the upper aspect of
the penis and not on the end

Etiology and Pathophysiology
Epispadias rare and often associated with extrophy of
bladder.
Hypospadias
Occurs from incomplete development of urethra in utero.
Occurs in 1 of 100 male children. Increased risk if father
or siblings have defect.
Defect ranges from mild (meatus is just below tip); to
meatus on the perineum between scrotum, ventral
foreskin lacking
May have accompanying chordee (a fibrous band that
causes the penis to curve downward),
Undescended testes found in conjunction with
hypospadias
Might interfere with fertility in the mature male if not
corrected.

Assessment
Usually discovered during
Newborn Physical Assessment
Why would the nurse
question an order to prepare
the infant for a circumcision?
Ask Yourself?
Answer:
The nurse would question the
order for a circumcision because
the foreskin is used in
reconstruction and repair of the
defect.
What is the relation of
epispadius or
hypospadius to
infertility?
Answer:
If the urethral opening is not at the end
of the penis, then the male will not be
able to deposit his sperm at the
opening of the os of the cervix.
Interventions
Medical Treatment:
Surgery
Reconstructive repositions uretheral
opening at tip of penis
Stent placed in urethra to maintain
patency
Chordee released and urethra
lengthened.
The reason for surgery at about 1
year of age is because:
a. children will experience less pain
b. chordee may be reabsorbed
c. the child has not developed body image
and castration anxiety
d. the repair is easier before toilet training


C= answer
1. MULLERIAN AGENISIS

Mayer Rokitansky-Kuster-Huser syndrome
Etiology ?
Failure of mullerian duct development absence of the
upper vagina, cx & uterus (uterine reminants may be
found)
The ovaries & fallopian tubes are present
Normal 46XX with normal exrenal genitalia
Pt present with 1ry amenorroea
47% have asociared urinary tract anomalies
12% skeletal anomalies
Rx
psychological counseling
surgical - vaginoplasty
- excision of utrine reminant (if it has
functioning endometrium)
-vaginal dilators
2. DISORDERS OF LATERAL FUSION OF THE MULL DUCTS

Incidence ? 0.1-2%
4% of infertile pt
6-10% recurrent abortion pt
Most pt can conceive without difficulty
Incidence of :
recurrent abortions
premature birth
fetal loss
fetal malpresentation
C S
cx incompetence
CLINICAL PRESENTATION

Shortly after menarche if there is obstruction to
uterine blood flow
Difficulty in intercorse longitudinal vaginal
septum
Dysmenorrhea or menorrhagia
Abnormality detected on D&C
U/S, laparoscopy or laparotomy
Palpable mass
Complications of pregnancy
HSG during infertility or RFL investigations



NON OBSTRUCTIVE MALFORMATIONS OF THE
MULLERIANE DUCTS
A-Uterus didelphus
Complete duplication of uterus, cx & vagina (due to
failure of fusion of the two Mull ducts)
? pregnancy wastage
Dx HSG or at laparoscopy / laparotomy
Rx If affecting pregnancy outcome surgical
correction (metroplasty)

B-Bicornuate uterus
Incomplete fusion of the two Mull ducts
pregnancy wastage
Dx HSG or at laparoscopy / laparotomy
Rx If affecting pregnancy outcome surgical
correction (metroplasty)


C-Septate uterus
External contour of the uterus is normal but there is
intrauterine septum of varying length & thickness
Worst pregnancy outcome
Dx both HSG & laparoscopy
Rx Hystroscopic excision of the septum

D-Unicornuate uterus
Due to development of only one Mull duct
Almost all pt have associated single kidney
Pregnancy outcome similar to pt with didelphic uteri
Dx HSG or surgery
Rx NO corrective surgery
if pt has associated cx incompetence cx
cerclage


E-Unicurnuate with rudimentary horn

Noncommunicating horn 90%
Present with cyclic pelvic pain , mass,
ectopic pregnancy in the rud horn
or endometriosis
Rx surgical excision
Communicating horn
Present with ectopic pregnancy in the
rud horn or pregnancy wastage

3. DISORDERS OF VERTICALE FUSION OF THE
MULLERIAN DUCTS
A- VAGINAL SEPTUM
Faults in the junction between the Mull. Tubercle & the
urogenital sinus could be very thick or thin
85% in upper two third of the vagina
Pt present 1ry amenorrhea, hematocolpus, mass or
cyclic abdominal pain
incidence of endometriosis
Rx surgical exision

B-Cx AGENISIS / DYSGENISIS
V rare
Difficult, unsuccessful surgical correction
Rx hysterectomy

4. UNUSUAL CONFIGRATION OF VERTICAL/LATERAL
FUSION DEFECTS

Combined lateral & verticle defects

Do not fit in other categories

EXAMPLE, double uterus with obstructed hemivagina

Double uterus with vaginal obstruction
A-Complete vaginal obstruction B-Incomp vag obst C-Comp obst with
comm double
uterus


5. DEFECTS OF THE EXTERNAL GENITALIA

Ambigious genitalia congenital adrenal hyperplasia
hermaphrodites
Defects of the clitoris uncommon bifid clitoris
hypertrophied androgen effect

IMPERFORATE HYMEN
Hymen is formed at the junction of the urogenital sinus
& sinovaginal bulbs
Pt presents with 1ry amenorrhea with cyclic abdominal
pain or hematocolpus /hematometra
Rx cruciate incision