1. 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%;
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
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)
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..