UNDESCENDED TESTIS/CRYPTORCHIDISM(CONGENITAL ANOMALY OF GENITOURINARY SYSTEM)

Mr. Dinabandhu Barad, MSC TUTOR, SNC,SOA,DTU

CONGENITAL
ANOMALY OF
GENITOURINARY
SYSTEM
BY:
Dinabandhu Barad
MSC TUTOR, SNC,SOA,DTU

UNDESCENDED TESTIS

DEFINITION
Undescended testis is the failure of one or both testes
to reach the normal position in the scrotal sac through
the inguinal canal.

INCIDENCE
Cryptorchidism is the most common genital abnormality in boys,
affecting approximately 30% of baby boys born prematurely and
about 4% born at term.
Around 1 in 20 male babies born at term also has cryptorchidism.
Many of these will become descended in time. However, for around 1
in 70 cases, the testis remains undescended after the child is 1 year old.

ETIOLOGICAL FACTORS
• The exact cause of an undescended testicle isn't known.
• A combination of genetics, maternal health and other environmental factors
might disrupt the hormones, physical changes and nerve activity that influence
the development of the testicles.

• Impairment of the hypothalamic pituitary gonadal axis: block in the hormonal
axis to stimulate the testes to descend or the testes may fail to respond o the
stimulus due to some inherent defects
• Anatomical obstruction: there may be an obstruction in the pathway of
descend or failure of intra abdominal pressure to rise
ETIOLOGICAL FACTORS

HPG AXIS

• Heredity or chromosomal anomalies: absence of one or both testes
• Short spermatic cord and artery mechanically prevent the descend
ETIOLOGICAL FACTORS

RISK FACTORS
Factors that might increase the risk of undescended testicle in a newborn
include:
• Low birth weight
• Premature birth
• Family history of undescended testicle or other problems of genital
development

RISK FACTORS
Factors that might increase the risk of undescended testicle in a newborn
include:
• Conditions of the fetus that can restrict growth, such as Down syndrome or an
abdominal wall defect
• Alcohol use by the mother during pregnancy

• Cigarette smoking by the mother or exposure to secondhand smoke
• Obesity in the mother
• Diabetes in the mother — type 1 diabetes, type 2 diabetes or gestational
diabetes
• Parents' exposure to some pesticides
RISK FACTORS

TESTIS DEVELOPMENT
The most common theories that explain cryptorchidism.
• Shortly after 6 weeks' gestation, the testis-determining SRY gene on chromosome Y
directly affects the differentiation of the indifferent gonad into a testis.
• Around 6-7 weeks' gestation, Sertoli cells develop and secrete müllerian inhibitory
substance (MIS; also known as antimüllerian hormone [AMH]), which leads to the
regression of the female genital organs.

TESTIS DEVELOPMENT
• Around 9 weeks' gestation, Leydig cells start producing testosterone, which
promotes development of the wolffian duct into portions of the male genital
tract.
• The testis remains in a retroperitoneal position until 28 weeks' gestation, at
which time inguinal descent of the testicle begins. Most testes have completed
their descent into the scrotum by 40 weeks' gestation.

PATHOGENESIS
At 32–36 wk, the testis, which is anchored at the internal inguinal ring, begins its
process of descent by gubernaculum. The gubernaculum distends the inguinal
canal and guides the testis into the scrotum. Following testicular descent, the
patent processus vaginalis (hernia sac) normally involutes.

THEORIES OF PATHOPHYSIOLOGY OF
CRYPTORCHIDISM
Several potential explanations for the pathophysiology of cryptorchidism have
been proposed, including
• Gubernacular abnormalities,
• Reduced intra-abdominal pressures,
• Intrinsic testicular or epididymal abnormalities
• Endocrine abnormalities,
• Anatomic anomalies (eg, fibrous bands within the inguinal canal or
abnormal arrangement of the cremasteric muscle fibers).

TYPES
• Retractile or pseudo cryptorchidism
• Palpable
• Non palpable
• Ectopic

TYPES
Retractile or pseudo cryptorchidism:
• This is NOT an undescended testicle but is often mistaken for one.
• It is caused byoveractive muscles that pull the testicle(s) out of the
scrotum.
• In this type the testicles can be placed in the scrotum manually and
stay there for a short period of time.
• This is a type of normal and does not need treatment.

Palpable (80%):
• In this type, (also called prepubic or inguinal) the testicle is located anywhere
from just above the scrotum to high in the groin.
Nonpalpable (15%):
• This means the testicle is in the boy’s abdomen or is absent and not felt in the
scrotum or inguinal canal.
Ectopic (5%):
• In this case, the testicle has taken the wrong path and ended in an unusual
location in the groin area. Mr. Dinabandhu Barad, MSC TUTOR, SNC,SOA,DTU
TYPES

CLINICAL FEATURES
• A nonpalpable testis (unable to feel on examination) is the most common
symptom of cryptorchidism.
• However, each child may experience symptoms differently.
• Symptoms of cryptorchidism may resemble other conditions or medical
problems.

DIAGNOSIS

PHYSICAL EXAMINATION
• The patient must be examined in a warm, relaxed environment.
• Closely observing the scrotum before manipulation is important.
• The frog-leg or catcher position may be used to facilitate palpation of the testis.
• Determining if the testis is palpable is essential. If the testis is palpable, ascertain
whether it can be retracted.

PHYSICAL EXAMINATION
• The best method of evaluating for an undescended testis is to start palpating at
level of the inguinal canal and perform a milking motion down toward the
scrotum.
• Look for hemiscrotal asymmetry and for contralateral testicular hypertrophy;
both are partial indicators of an absent testis.
• Examination of potential ectopic sites (eg, penile, femoral, and perineal areas) is
important if the testicle cannot be felt in the inguinal area.

LABORATORY STUDIES
• Routine laboratory workup is not indicated with unilateral cryptorchidism.
• Patients with bilateral nonpalpable testis and those with unilateral or bilateral
undescended testis associated with hypospadias should undergo evaluation to
rule out a disorder of sex development (DSD).

LABORATORY STUDIES
The evaluation should include chromosomal analysis and measurement of
• 17-hydroxylase progesterone
• testosterone, luteinizing hormone (LH)
• follicle-stimulating hormone (FSH).
For bilateral nonpalpable testis, abdominal-pelvic ultrasonography (US) is
advisable, mainly to determine if any müllerian structures, such as a uterus, are
present.

LABORATORY STUDIES
• Anorchia can be confirmed by means of hormonal stimulation with human
chorionic gonadotropin (hCG), with baseline and poststimulation measurement
of LH, FSH, and testosterone hormone levels. (If LH and FSH level rises without
testosterone)

LABORATORY STUDIES
• Another marker of testicular function is müllerian-inhibiting substance (MIS; also
known as antimüllerian hormone [AMH]).
• MIS levels that exceed 5 ng/mL suggest the presence of testicular tissue and are
an indication for exploration.
• However, this study is not yet in widespread use, and its applicability to older
children remains to be defined.

Imaging studies have little or no role in the diagnosis of cryptorchidism.
USG, computed tomography (CT), magnetic resonance imaging (MRI), and
angiography have been used to detect undescended testes. However, these studies
have unacceptable false-positive and false-negative rates. CT exposes the patient to
high levels of radiation, and MRI requires sedation or anesthesia; both are costly
IMAGING STUDIES

Complications of a testicle not being located where it is
supposed to be include:
• Testicular cancer
• Fertility problems
• Other complications related to the abnormal location of the undescended
testicle include:
• Testicular torsion.
• Inguinal hernia.
COMPLICATIONS

TREATMENT
• In most cases, the testicle will descend without treatment during the child’s first
year. If this does not occur, treatment may include:
• Hormone injections (HCG or testosterone) to try to bring the testicle into the
scrotum. It also helps in the enlargement of the testis.
• Surgery (orchiopexy) to bring the testicle into the scrotum. This is the main
treatment. If there is an associated hernia, the herniotomy along with
orchidoplexy is indicated.

• Having surgery early may prevent damage to the testicles that can cause
infertility.
• An undescended testicle that is found later in life may need to be removed.
This is because the testicle is not likely to function well and could pose a risk
for cancer.
TREATMENT

UNDESCENDED TESTIS/CRYPTORCHIDISM(CONGENITAL ANOMALY OF GENITOURINARY SYSTEM)

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UNDESCENDED TESTIS/CRYPTORCHIDISM(CONGENITAL ANOMALY OF GENITOURINARY SYSTEM)