Genital Anomalies
H. Salimi M.D.
Hasheminejad Kidney Center
Iran Medical University of Science
Normal Anatomy
Phimosis
Paraphimosis
Complication of Circumcision
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Bleeding
Edema
Infection
Meatal stenosis
Adhesions
Penis loss
Meatus stenosis
Hypospadias
• Ventral mallocation of meatus
• Ventral chordee
• No prepuce at ventral side
Embryology
• At the ninth week of gestation, the external genitalia
begin to differentiate between the two sexes.
• In the male fetus, genetic programming results in
androgenic stimulation that induces posterior fusion
of the genital folds and growth of the genital tubercle
into a phallic structure . The penile urethra forms as a
result of remolding and fusion of the medial edges of
the endodermal urethral folds .
• By 12 weeks gestation, the coronal sulcus separates
the glans from the shaft of the penis.
• By 16 to 18 weeks, urethral formation is complete, and
the foreskin covers the glans.
Pathogenesis
• Disruption of the androgenic stimulation that is required for the
development of the normal male external genitalia is the proposed
mechanism resulting in hypospadias
• Genetic factor
• Exposure to estrogenic compounds (eg, maternal progestin or
diethylstilbestrol) during pregnancy
• In most cases of hypospadias, however, the cause is unknown. Both
genetic and environmental factors are associated with hypospadias,
suggesting that the etiology is multifactorial [These include the
following:
 Advanced maternal age
 Pre-existing maternal diabetes mellitus
 Gestational age before 37 weeks
 History of paternal hypospadias
 Exposure to smoking and pesticides
Epidemiology
• Hypospadias is one of the most common
congenital anomalies with an incidence that
varies from 0.3 to 0.7 percent in live male
births.
• The risk of hypospadias appears to be
increasing based upon population surveys
throughout the world.
Classifaication
• mild – Urethral opening within the glans or
subcorona : 50%
• moderate– Urethral opening on the penile
shaft : 30%
• severe)– Urethral opening within the scrotum
or perineum: 20%
Evaluation
• Initial evaluation — Once hypospadias has
been identified, the initial evaluation includes:
• a focused history
• examination of the genitalia, and
• identification of other congenital anomalies
• Evalation for DSD
Cryptorchidism and hypospadias
Proximal hypospadias without cryptorchidism
• Pelvic ultrasound to evaluate internal
genitalia
• Karyotype
• Serum electrolytes as a screen for salt-wasting
forms of congenital adrenal hyperplasia (CAH),
one of the causes of DSD.
Surgery
• Timing
• The American Academy of Pediatrics
recommends that genital surgery be
performed before 18 months of age based
upon the premise that gender identity is not
defined until 18 months of age
• General consensus within the pediatric
urology community is to perform surgery at
six months of age in full term healthy infants
Epispadias
• Isolated
• Associated with
Bladder Extrophy
Cryptorchidism
Introduction
• Cryptorchidism is the most common genital problem
encountered in pediatrics
• Untreated cryptorchidism clearly has deleterious
effects on the testis over time
– 89% of untreated males with bilateral cryptorchidism
develop azospermia
– Lifetime risk of neoplasia 2-3%
• 4 fold higher than average risk
• Despite more than 100 years of research, many
aspects of cryptorchidism are not well defined and
remain controversial
Definitions
• Cryptorchid: testis neither resides nor can be
manipulated into the scrotum
• Ectopic: aberrant course
• Retractile: can be manipulated into scrotum
where it remains without tension
• Nonpalpable testes occur in approximately
20-30% of those who have cryptorchidism
• Abdominal=10%; inguinal=68%; prescrotal=
24%; ectopic= 11.5%;
• bilateral, 30%; and unilateral testis, 70%.
Epidemiology & Risk Factors
• Frequency 3.4 % in term boys , By 1 yo, incidence
0.8%.
• Risk factors:
• IUGR, prematurity
– Incidence in premies 30%
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First-or second-born
Perinatal asphyxia
C-section
Toxemia of pregnancy
Congenital subluxation of hip
Seasonal (especially winter)
Radiology
• Radiologic studies to localize the testis are currently
of very little value.
• To date, examination by a pediatric urologist has
proven to be more valuable than ultrasound, CT
scan, or MRA findings.
• Ultrasound of abdomen and pelvis along with
genitography should be used when the diagnosis of
intersex is considered.
• Laparoscopy if the testis is not palpable
Treatment
• Hormonal (HCG, GnRH)
• Surgery
Timing: 6 month in normal term boy
Hernia , Hydrocele