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CSBL > 13A - Undescended Testes > Flashcards

13A - Undescended Testes Flashcards

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1
Q

What condition presents in adolescents with sudden, severe scrotal pain, high-riding testis, negative Prehn sign, and absent cremasteric reflex?

A

Testicular torsion

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2
Q

What is the definitive treatment for testicular torsion if diagnosed early?

A

Emergency surgical orchidopexy (within 6 hours)

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3
Q

What physical exam sign relieves scrotal pain when the testis is elevated, and is associated with epididymitis?

A

Positive Prehn sign

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4
Q

In testicular torsion, how is the orientation of the testis typically described?

A

Transversely oriented testis (bell clapper deformity)

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5
Q

What infection is most associated with isolated orchitis?

A

Mumps virus

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6
Q

What condition presents with epididymal swelling and tenderness, positive Prehn sign, and intact cremasteric reflex?

A

Epididymitis

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7
Q

What organisms most commonly cause epididymitis in males <35 years old?

A

Chlamydia trachomatis and Neisseria gonorrhoeae

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8
Q

What condition is associated with a ‘bag of worms’ feeling on palpation of the scrotum?

A

Varicocele

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9
Q

Why is varicocele more common on the left side?

A

The left testicular vein drains into the left renal vein at a 90° angle, increasing venous pressure

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10
Q

What should you suspect if a varicocele is found on the right side?

A

Retroperitoneal tumor, e.g. renal cell carcinoma

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11
Q

What is the recommended treatment for varicocele when associated with infertility or discomfort?

A

Surgical ligation or embolization

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12
Q

What condition involves undescended testes and is common in premature infants?

A

Cryptorchidism

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13
Q

What hormones are altered in bilateral cryptorchidism?

A

↑FSH, ↑LH, ↓Inhibin B, ↓Testosterone

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14
Q

What are complications of untreated cryptorchidism?

A

Infertility, testicular torsion, testicular tumors (e.g., seminoma)

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15
Q

What condition presents with scrotal swelling that transilluminates and may resolve spontaneously in infants?

A

Congenital hydrocele

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16
Q

What is the key difference between hydrocele and varicocele on transillumination?

A

Hydrocele transilluminates; varicocele does not

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17
Q

What parasitic infection can cause hydrocele due to lymphatic obstruction?

A

Wuchereria bancrofti

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18
Q

What is a spermatocele?

A

A cystic mass from the epididymis or rete testis that transilluminates and is usually asymptomatic

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19
Q

What congenital condition is suspected in a male adolescent with anosmia, delayed puberty, and low GnRH, LH, FSH, and testosterone?

A

Kallmann syndrome

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20
Q

What embryologic defect underlies Kallmann syndrome?

A

Failure of GnRH and olfactory neurons to migrate from the olfactory placode to the hypothalamus.

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21
Q

What are the hallmark features of Kallmann syndrome?

A

Anosmia (or hyposmia), delayed or absent puberty, low GnRH, LH, FSH, and sex hormones.

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22
Q

What is the hormonal profile in Kallmann syndrome?

A

Low GnRH, LH, FSH, and testosterone; other pituitary hormones are normal.

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23
Q

What is the treatment for Kallmann syndrome?

A

Hormone replacement therapy to induce puberty and support secondary sex characteristics.

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24
Q

What condition is suspected in a 13-year-old with virilization, high testosterone, low DHT, and 46,XY karyotype?

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A

5α-reductase deficiency

25
What enzyme is deficient in 5α-reductase deficiency, and what is its role?
5α-reductase; converts testosterone to DHT, which is crucial for external male genitalia development.
26
What are the typical findings at birth and puberty in 5α-reductase deficiency?
At birth: ambiguous or female external genitalia; at puberty: virilization due to increased testosterone.
27
What is the hormonal profile in 5α-reductase deficiency?
Normal testosterone, low DHT, normal/increased LH.
28
What is the inheritance pattern of 5α-reductase deficiency?
Autosomal recessive, sex-limited to genetically male individuals (46,XY).
29
What is the difference between genotypic and phenotypic sex?
Genotypic sex is based on chromosomes (XX or XY); phenotypic sex is based on physical sexual characteristics.
30
What is a 46,XY DSD?
A condition in which a genetically male individual (46,XY) has ambiguous or female external genitalia.
31
What hormone primarily drives male external genitalia development?
Dihydrotestosterone (DHT)
32
What is the function of anti-Müllerian hormone?
Prevents the development of female internal reproductive structures (Müllerian ducts) in males.
33
What condition presents with 46,XY genotype, normal or high testosterone, and female external genitalia?
Androgen Insensitivity Syndrome (AIS)
34
What is the cause of Androgen Insensitivity Syndrome?
Mutation in the androgen receptor gene (X-linked recessive).
35
What is ovotesticular disorder?
Presence of both ovarian and testicular tissue, usually in individuals with 46,XX or mosaic karyotype.
36
What condition can cause virilization of a pregnant mother carrying a female fetus?
Placental aromatase deficiency
37
What is the hormonal profile in placental aromatase deficiency?
Low estrogen, high testosterone and androstenedione.
38
What distinguishes central vs peripheral precocious puberty?
Central: GnRH-dependent; Peripheral: GnRH-independent (due to hormone-secreting tumors or exogenous hormones).
39
What is hypospadias?
A congenital condition where the urethral opening is located on the underside (ventral side) of the penis or in the anterior vaginal wall in females.
40
What is epispadias?
A congenital condition where the urethral opening is located on the upper surface (dorsal side) of the penis or too far anterior in females.
41
What do the prefixes and suffix in hypospadias and epispadias mean?
“Hypo-” means below, “epi-” means above, and “-spadias” means slit or opening.
42
What developmental issue causes hypospadias in males?
Failure of the urethral folds to fuse properly along the penile shaft.
43
What developmental issue causes epispadias in males?
The genital tubercle grows in a posterior (caudal) direction rather than cranially.
44
Which hormone is critical for male genital development and urethral canalization?
Dihydrotestosterone (DHT).
45
At what week does the penile urethra normally close in fetal development?
Around the 14th week of gestation.
46
What are the three anatomical locations of hypospadias in males?
Glanular (least severe), midshaft, and penoscrotal (most severe).
47
What are the three anatomical locations of epispadias in males?
Glanular (least severe), penile, and penopubic (most severe).
48
Where does the urethra open in female hypospadias?
Into the anterior vaginal wall.
49
What is the result of epispadias in females?
Urethra develops too far anteriorly, often associated with a bifid clitoris.
50
What conditions are commonly associated with hypospadias?
Chordee, inguinal hernia, cryptorchidism, and micropenis.
51
What condition is commonly associated with epispadias?
Bladder exstrophy.
52
What symptoms may males with hypospadias or epispadias experience?
Difficulty directing urine, incontinence, sexual dysfunction, infertility.
53
What symptoms may females with hypospadias or epispadias experience?
Frequent/painful urination, UTIs, incontinence, and delayed diagnosis.
54
How are hypospadias and epispadias typically diagnosed?
Through physical examination of the newborn and imaging studies like excretory urograms.
55
When is surgery usually performed for hypospadias and epispadias?
Within the first two years of life.
56
When might hormone therapy be used in these conditions?
When additional issues like micropenis are present.
57
Why should infants with hypospadias not be circumcised?
The foreskin may be needed for future reconstructive surgery.
58
Can hypospadias and epispadias be corrected?
Yes, both are generally treatable with surgery, allowing normal urination and improved function.

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