3. CRYPTOCHIDISM
Cryptorchidism is the most common genital problem
encountered in pediatrics, refers to an un-descended or
mal-descended testis.
Testicular embryology
Normal testicular development begins at conception. The
testis-determining factor is now identified as the SRY gene
(sex-determining region on Y chromosome).The presence
of this gene and an intact downstream pathway generally
result in testicular formation.
At 3-5 weeks' gestation, the gonadal ridge or indifferent
gonad develops, and at 6 weeks, primordial germ cell
migration occurs.
Soon after, Sertoli cells develop and secrete müllerian-
inhibiting substance (MIS), the level of which remains
high throughout gestation and causes regression of
müllerian ducts.
At 9weeks, Leydig cells develop and secrete testosterone.
Up to 28 weeks there is transabdominal movement to the
internal inguinal ring. Transinguinal migration, thought to
be under hormonal control, occurs from weeks 28-40,
usually resulting in a scrotal testis by the end of a full
term of gestation.
Occurrence
Seen in 3% of full-term newborn boys, decreasing to 1%
in boys aged 1 year. Spontaneous descent after the first
year of life is uncommon
Predisposing factors
➢ .Prematurity- The prevalence rate is 30% n
premature boys.
➢ Low birth weight
➢ Twinning
➢ Maternal exposure to estrogen during the first
trimester.
➢ Siblings of boys with undescended testes A 7%
incidence rate is seen.
Etiology
The multifactorial mechanism of occurrence involves
1) Differential body growth relative to spermatic
cord/gubernaculums
2) Increased abdominal pressure
3) hormonal factors, including testosterone, MIS, and
extrinsic estrogen
4) development/maturation of the epididymis
5) gubernacular attachment
6) genitofemoral nerve/calcitonin gene–related peptide
(CGRP).
Clinical:
The most useful classification is whether testes are
palpable upon physical examination.
-If nonpalpable, testes may be intra-abdominal or absent.
-If palpable, testes may be undescended, ectopic, or
retractile.
Nonpalpable testes occur in approximately 20-30% of
those who have cryptorchidism. The absent testis is
thought to occur from an intrauterine or perinatal vascular
event. Only 20-40% of nonpalpable testes are absent upon
surgical exploration.
Were abdominal 10%; inguinal 68%; prescrotal, 24%;
ectopic/SIP, 11.5%; bilateral, 30%;
Associated anomalies/conditions may include the
following:
Patent processus vaginalis
➢ Abnormal epididymis
➢ Cerebral palsy
➢ Mental retardation
➢ Wilms tumor
➢ Abdominal wall defects (eg, gastroschisis,
omphalocele, prune belly)
➢ Hypospadias
➢ Inguinal hernia
➢ Hemiscrotum
➢ Hydrocele
➢ Abnormalities of vas deferens and epididymis
➢ Klinefelter's syndrome
➢ Hypogonadotropic hypogonadism
Overall, 32-79% of undescended testes are reported to be
associated with some type of epididymal abnormality.
However, abnormalities that inhibit sperm transport (eg,
complete caput separation, atresia, agenesis ) have been
reported in only 8% of patients.
History
➢ Determination of whether the testis has ever
been palpable in scrotum
➢ History of prior inguinal surgery
➢ Prenatal history, ie, assisted reproductive
technique, maternal hormonal treatment,
multiple gestations, prematurity
➢ Family history, ie, cryptorchidism, hypospadias,
intersex, precocious puberty, infertility,
consanguinity
Physical examination
➢ Warm, relaxed patient
➢ Observation prior to examination
➢ Frog-leg position
➢ Milk down, palpating from iliac crest to
scrotum (soap or lubrication on fingertips may
help)
➢ Scrotum, ie, hypoplastic, bifid, rugae,
transposition, pigmentation
➢ Contralateral testicular hypertrophy
➢ Ectopic sites, ie, superficial inguinal pouch or
transverse scrotal, femoral, prepenile, perineal,
or contralateral hemiscrotum
➢ Presence of hypospadias/chordee, normal
stretched penile length
➢ Serial examinations, if equivocal
Indications for hormonal or surgical correction of
cryptorchidism include the following: Possible improved
fertility
➢ Self-examination for testis mass (cancer)
➢ Correction of associated hernia
➢ Prevention of testicular torsion
➢ Avoidance of injury against pubic bone
➢ Psychological effects of empty scrotum
Lab Studies: For unilateral undescended testis without
hypospadias, no lab studies are needed.
For unilateral or bilateral undescended testes with
hypospadias or bilateral nonpalpable testes, tests include
the following:
▪ Testing to rule out intersex condition
(mandatory)
▪ 17-hydroxylase progesterone
▪ Testosterone
▪ Luteinizing hormone (LH)
▪ Follicle-stimulating hormone (FSH)
▪
4. Imaging Studies:
Abdominopelvic ultrasonography to determine the
location of ectopic testis and rule out other associated
abnormalities in the upper urinary tracts.
Medical therapy:
The appropriate time for treatment is when the individual
is aged approximately 1 year. This age limit has decreased
over the recent decades and is based on
(1) the rarity of spontaneous descent after age 1 year and
(2) the possible salvage of improved fertility by earlier
intervention.
Primary hormonal therapy with hCG or gonadotropin-
releasing hormone (GnRH or LH-releasing hormone
[LHRH])
Human chorionic gonadotropin
The action of hCG is virtually identical to that of pituitary
LH, although hCG also appears to have a small degree of
FSH activity. It stimulates production of gonadal steroid
hormones by stimulating the Leydig cells to produce
androgens.
Gonadotropin-releasing hormone Agonistic analogs of
GnRH such as nafarelin or buserelin stimulate the release
of the pituitary gonadotropins, LH and FSH, resulting in a
temporary increase of gonadal steroidogenesis.
Surgery
Non-palpable testis-Exploratory laparatomy and
orchidopexy.
Usually surgery should be done before the age of 2 years
as past this age structural changes are noticed to occur in
the testis which compromise the blood testis barrier and
this lead to auto immunity.
However its thought that cryptochidism may b part of
chromosomal abnormality part of which affect the
spermatogenesis.
Palpable testis
An incision is made over the inguinal canal along the
Langer lines. For gonadal identification, care is taken
when incising the Scarpa fascia because the testis may be
located in the superficial inguinal pouch and not in the
inguinal canal.
For mobilization of the testis, the distal gubernacular
attachments are divided. Then, the cremasteric muscle
fibers are transected. Separate the cord structures from the
peritoneum above the internal inguinal ring during
ligation of the hernia sac. Divide the lateral spermatic
fascia to allow medial movement of the testis. Isolate and
perform high ligation of the patent processus vaginalis on
the anteromedial surface of the cord. Relocate the testis
into the scrotum in a subcutaneous or subdartos pouch.
Complications of orchidopexy are as follows
1.Inadequate testis position occurs in as many incomplete
retroperitoneal dissection.
2.Testicular atrophy occurs in approximately 5% of cases
due to devascularization.
3.Accidental division of the vas deferens occurs in 1-2%
of patients..
4.Epididymoorchitis is uncommon and may be treated
with antibiotics.
5.Scrotal swelling may occur and usually is secondary to
edema. If progressive, it may be due to bleeding and
should be explored. A later presentation of swelling may
be secondary to a hydrocele, which, if large, requires
transscrotal repair
6.Higher risk (20-46 times) of testicular cancer (risk may
remain despite orchiopexy)
7.Hernia development (25%)
NB Orchidopexy is not protective against subsequent
testis cancer. Testicular tumors after previously successful
orchidopexy most frequently are nonseminomatous germ
cell tumors, while abdominal testes may develop
seminomas