Male Congenital Malformations Flashcards
What is cryptochidism?
Congenitally undescended testis
Does cryptochidism require surgical treatment?
It is the most common urologic condition requiring surgical treatment in infants
How frequent is cryptochidism at term?
About 4% of newborns have cryptochidism
Is cryptochidism unilateral or bilateral most commonly?
Unilateral
Where are fetal testes originally located?
In the abdominal cavity
Where and when do the fetal tested descend?
Towards the inguinal canal and thru it, ultimately reaching the scrotum by 33 weeks
What happens to the inguinal canal after the testes have descended thru it?
It is obliterated, thus preventing the testes from retracting back into the abdominal cavity
What is the prevalence of cryptochidism in adults?
Less than .4%
What are the histologic consequence of cryptochidism from birth to 5 years of age?
Reduced diameters of the seminiferous tubules with decreased germ cells
What are the consequences of delaying the repositioning of testes beyond puberty?
Hyaline thickening of the tubular BM with stromal fibrosis are seen
In cryptochidism, where are the testes most often located?
60% are located high in the scrotal sac, 25% are located in the inguinal canal, 15% are located still in the abdominal cavity
How frequently are both testes affected in cryptochidism?
25% of the time, and infertility may result
If only one testis is involved, will the other normal one be sufficient to maintain feritility?
Yes, one is sufficient
What is the risk of developing germ cell tumors in untreated cryptochidism?
Risk of developing Seminomas and Embryological Carcinomas is increased 10-35 times
Orchiopexy performed after what age is more likely to develop germ cell tumors?
After 10 years of age. Orchiopexy performed before 5 years of age virtually eliminates the risk of developing germ cell tumors
T/F There is a slight chance of malignancy in the contralateral, normally descended teste
T
Adult men with untreated bilateral cryptochidism, are they fertile?
No, they are infertile
What is Klinefelter Syndrome?
Male hypogonadism (one of the most common causes) and occurs when there are two or more X chromosomes and one or more Y chromosomes
What is the incidence of Klinefelter Syndrome?
1 in 850 live male births
Why is Klinefelter Syndrome rarely diagnosed before puberty?
The testicular abnormality does not develop until the early teens
How does Klinefelter Syndrome affect the body habitus of most pts?
Most have a eunichoid body habitus with long lengs which creates the appearance of an elongated body with small atrophic testes, and small penis, and lack of secondary sex characteristics
T/F Gynecomastia may be present in pts with Klinefelter Syndrome
T
How is IQ affected in pts with Klinefelter Syndrome?
Mean IQ is somewhat lower than normal but mental retardation is uncommon
What is the most consistent finding in pts with Klinefelter Syndrome?
Hypogonadism - the plasma FSH levels are consistently elevated and the testosterone levels are reduced
How is spermatogenesis and fertility affected by Klinefelter Syndrome?
Reduced spermatogenesis and male infertility
How are the testicular tubules affected in pts with Klinefelter Syndrome?
They are totally atrophied, and replaced by pink, hyaline, collagenous shells
How do the Leydig cells appear in pts with Klinefelter Syndrome?
Appear larger, owing to the diffuse atrophy of the tubules
What karyotype is the classic pattern of Klinefelter Syndrome associated with?
Karyotype 47XXY
How frequent is karyotype 47XXY?
Comprises 85% of cases
What does the karyotype 47XXY pattern result from?
Nondisjunction of both maternal and paternal chromosomes during meiotic division (about 50/50)
What is a hydrocele?
A collection of serous fluid in the scrotal sac b/w the two layers of the tunica vaginalis
What are the two types of hydrocele?
Congenital or acquired
What is the most common cause of scrotal swelling in infants?
Congenital hydrocele
What is congenital hydrocele often associated with?
Inguinal hernia
Which type of hydrocele occurs in adults?
Acquired hydrocele
What is acquired hydrocele secondary to?
Other diseases affecting the scrotum such as infection, tumor, or trauma
A hydrocele is benign or malignant?
Benign
When does a hydrocele disappear?
When the underlying disease has been eliminated
What can long standing hydroceles cause?
May cause testicular atrophy or compression of the epididymis
How is diagnosis of hydroceles made?
Either by ultrasound or transillumination of the fluid of the scrotum, with the opaque testis outlined within the fluid-filled space
What is a spermatocele?
A cystic mass formed from the protrusions of widened efferent ducts of the epididymis or rete testis
What does a spermatocele manifest as?
Paratesticular nodule or soft mass filled with milky fluid
What is the histology of a spermatocele?
It is lined with cuboidal epithelium that contains spermatozoa in various stages of development
What is a hematocele?
The presence of blood w/in the tunica vaginalis that usually follows direct trauma to the testis
When can a hematocele also be seen besides after trauma?
After testicular torsion, testicular tumors, or rarely after infections of the testis
