Pediatrics SF 2

Question 1

most common disorder of sexual differentiation in males

Answer 1

CRYPTORCHIDISM (Nelson)

Question 2

Hormonal controls of testicular descent

Answer 2

TRANSABDOMINAL PHASE

• controlled by mullerian-inhibiting substance (Robbins)
• controlled by Insulin-like factor 3 (Nelson)

INGUINOSCROTAL PHASE
-androgen-dependent
»androgen-induced release of calcitonene gene-related peptide from the genitofemoral nerve (Robbins / Nelson)

Question 3

most common site of arrest in testicular descent

Answer 3

inguinal canal (Robbins)

arrest within the abdomen is uncommon (5-10%)

Question 4

the histologic changes on the malpositioned testis begin as early as

Answer 4

2 years of age (Robbins)

pathologic changes occur by 6-12 months (Nelson)

Question 5

current recomendations for orchiopexy is to be performed at

Answer 5

6-12 months (Robbins)

however, risk of cancer and sterility is not completely eliminated with orchiopexy

Question 6

testicular descent occurs at

Answer 6

7-8 months (Nelson)

12 weeks: inguinal region
28 weeks: inguinal canal
33 weeks: scrotum
(Langman)

The process is influened by hormones, including androgens and MIS (Langman)

TRANSABDOMINAL PHASE

• controlled by mullerian-inhibiting substance (Robbins)
• controlled by Insulin-like factor 3 (Nelson)

INGUINOSCROTAL PHASE
-androgen-dependent
»androgen-induced release of calcitonene gene-related peptide from the genitofemoral nerve
(Robbins)

Question 7

Under the influence of ______, the primitive sex cords continue to proliferate and penetrate deep into the medulla to form the testis

Answer 7

SRY gene on the Y chromosome, which encodes the TESTIS-DETERMINING FACTOR

Question 8

As many as 50% of ocngenital undescended testes descend sopsntaneously during the first _____ months of life

Answer 8

first 3 months of life (Nelson)
-spontaneous descent occurs secondary to a temporary testosterone surge (“minipuberty”) during the first 2 months (Nelson)

If the testis has not descended by 4 months, it will remain undescended

In the absence of spontaneous testicular descent by 6 mo (corrected for gestational age), specialists should perform surgery within the next year (AUA)

Question 9

the testis develops in the abdomen at

Answer 9

7-8 weeks of gestation (Nelson)

Question 10

most common tumor developing in an undescened testis in an adolescent or adult is

Answer 10

SEMINOMA -75% (Nelson, 2020) 📌

Seminoma is the most common tumor developing in the cryptorchid testis occurs between 35 and 45 years and extremely rare before puberty (Althaf et al, 2017)

after orchiopexy, NONseminomatous tumors represent 65% of testis tumor (Nelson, 2020)

Question 11

it is uncommon for testis tumors to occur if the orchiopexy was performed before

Answer 11

2 y/o (Nelson)

The contralateral scrotal testis is NOT at increased risk for malignancy (Nelson)

Question 12

the congenital undescended testis should be treated surgically by

Answer 12

9-15 months of age (Nelson)

With anesthesia by a pediatric anethesiologist, surgical correction at 6 months is appropriate, because spontaneous descent of the testis will not occur after 4 months of age (Nelson)

In the absence of spontaneous testicular descent by 6 mo (corrected for gestational age), specialists should perform surgery within the next year (AUA)

Procedures:

• Dartos pouch orchiopexy
• Stage orchiopexy (Fowler-Stephens; sometimes needed in males with a high abdominal testis)
• Orchiectomy

Question 13

remarks on Prune-Belly syndrome

Answer 13

aka TRIAD SYNDROME
aka EAGLE-BARRETT SYNDROME

TRIAD of “BUD”
Bilateral undescended testes
Urinary tract abnormalities
Deficient abdominal muscles

surgery (orchidopexy) is best accomplished in the first 6 months of life

Question 14

prune-belly syndrome: prognosis ultimately depends on

Answer 14

degree of pulmonary hypoplasia and renal dysplasia

Question 15

most common form of male DSD

Answer 15

ANDROGEN INSENSITIVITY SYNDROMES (AIS)

DSD: Disorders of Sexual Differentiation

Question 16

Swyer syndrome

Answer 16

XY gonadal dysgenesis
-low levels of testosterone

unlike AIS (Androgen insensitivity syndrome), which have normal levels of testosteron

Question 17

AIS: in 1/3 of patients, malignant tumors, usually _______, develop by 50 years of age

Answer 17

seminoma (Nelson)

In patients with complete AIS who sexual orientation is unabiguously female, the testes should be removed as soon as they are discovered (Nelson)

Question 18

characterized by microcephaly, ptosis, anteverted nares and syndactyly of 2nd-3rd toes

Answer 18

SMITH-LEMLI-OPITZ SYNDROME
-mutation in sterol ∆7-reductase gene

Quartet of “SPAM”
Syndactyly of 2nd-3rd toes
Ptosis
Anteverted nares
Microcephaly

+cognitive impairment, ambiguous genitalia