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Reproduction > Male Congenital Malformations > Flashcards

Male Congenital Malformations Flashcards

1
Q

What is cryptochidism?

A

Congenitally undescended testis

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2
Q

Does cryptochidism require surgical treatment?

A

It is the most common urologic condition requiring surgical treatment in infants

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3
Q

How frequent is cryptochidism at term?

A

About 4% of newborns have cryptochidism

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4
Q

Is cryptochidism unilateral or bilateral most commonly?

A

Unilateral

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5
Q

Where are fetal testes originally located?

A

In the abdominal cavity

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6
Q

Where and when do the fetal tested descend?

A

Towards the inguinal canal and thru it, ultimately reaching the scrotum by 33 weeks

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7
Q

What happens to the inguinal canal after the testes have descended thru it?

A

It is obliterated, thus preventing the testes from retracting back into the abdominal cavity

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8
Q

What is the prevalence of cryptochidism in adults?

A

Less than .4%

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9
Q

What are the histologic consequence of cryptochidism from birth to 5 years of age?

A

Reduced diameters of the seminiferous tubules with decreased germ cells

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10
Q

What are the consequences of delaying the repositioning of testes beyond puberty?

A

Hyaline thickening of the tubular BM with stromal fibrosis are seen

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11
Q

In cryptochidism, where are the testes most often located?

A

60% are located high in the scrotal sac, 25% are located in the inguinal canal, 15% are located still in the abdominal cavity

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12
Q

How frequently are both testes affected in cryptochidism?

A

25% of the time, and infertility may result

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13
Q

If only one testis is involved, will the other normal one be sufficient to maintain feritility?

A

Yes, one is sufficient

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14
Q

What is the risk of developing germ cell tumors in untreated cryptochidism?

A

Risk of developing Seminomas and Embryological Carcinomas is increased 10-35 times

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15
Q

Orchiopexy performed after what age is more likely to develop germ cell tumors?

A

After 10 years of age. Orchiopexy performed before 5 years of age virtually eliminates the risk of developing germ cell tumors

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16
Q

T/F There is a slight chance of malignancy in the contralateral, normally descended teste

A

T

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17
Q

Adult men with untreated bilateral cryptochidism, are they fertile?

A

No, they are infertile

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18
Q

What is Klinefelter Syndrome?

A

Male hypogonadism (one of the most common causes) and occurs when there are two or more X chromosomes and one or more Y chromosomes

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19
Q

What is the incidence of Klinefelter Syndrome?

A

1 in 850 live male births

20
Q

Why is Klinefelter Syndrome rarely diagnosed before puberty?

A

The testicular abnormality does not develop until the early teens

21
Q

How does Klinefelter Syndrome affect the body habitus of most pts?

A

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

22
Q

T/F Gynecomastia may be present in pts with Klinefelter Syndrome

A

T

23
Q

How is IQ affected in pts with Klinefelter Syndrome?

A

Mean IQ is somewhat lower than normal but mental retardation is uncommon

24
Q

What is the most consistent finding in pts with Klinefelter Syndrome?

A

Hypogonadism - the plasma FSH levels are consistently elevated and the testosterone levels are reduced

25
Q

How is spermatogenesis and fertility affected by Klinefelter Syndrome?

A

Reduced spermatogenesis and male infertility

26
Q

How are the testicular tubules affected in pts with Klinefelter Syndrome?

A

They are totally atrophied, and replaced by pink, hyaline, collagenous shells

27
Q

How do the Leydig cells appear in pts with Klinefelter Syndrome?

A

Appear larger, owing to the diffuse atrophy of the tubules

28
Q

What karyotype is the classic pattern of Klinefelter Syndrome associated with?

A

Karyotype 47XXY

29
Q

How frequent is karyotype 47XXY?

A

Comprises 85% of cases

30
Q

What does the karyotype 47XXY pattern result from?

A

Nondisjunction of both maternal and paternal chromosomes during meiotic division (about 50/50)

31
Q

What is a hydrocele?

A

A collection of serous fluid in the scrotal sac b/w the two layers of the tunica vaginalis

32
Q

What are the two types of hydrocele?

A

Congenital or acquired

33
Q

What is the most common cause of scrotal swelling in infants?

A

Congenital hydrocele

34
Q

What is congenital hydrocele often associated with?

A

Inguinal hernia

35
Q

Which type of hydrocele occurs in adults?

A

Acquired hydrocele

36
Q

What is acquired hydrocele secondary to?

A

Other diseases affecting the scrotum such as infection, tumor, or trauma

37
Q

A hydrocele is benign or malignant?

A

Benign

38
Q

When does a hydrocele disappear?

A

When the underlying disease has been eliminated

39
Q

What can long standing hydroceles cause?

A

May cause testicular atrophy or compression of the epididymis

40
Q

How is diagnosis of hydroceles made?

A

Either by ultrasound or transillumination of the fluid of the scrotum, with the opaque testis outlined within the fluid-filled space

41
Q

What is a spermatocele?

A

A cystic mass formed from the protrusions of widened efferent ducts of the epididymis or rete testis

42
Q

What does a spermatocele manifest as?

A

Paratesticular nodule or soft mass filled with milky fluid

43
Q

What is the histology of a spermatocele?

A

It is lined with cuboidal epithelium that contains spermatozoa in various stages of development

44
Q

What is a hematocele?

A

The presence of blood w/in the tunica vaginalis that usually follows direct trauma to the testis

45
Q

When can a hematocele also be seen besides after trauma?

A

After testicular torsion, testicular tumors, or rarely after infections of the testis

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