Chapter 16

Question 1

a cancer of the kidneys that usually affects children by 5 years of age but may also occur in the fetus.

Answer 1

Wilms Tumor

Question 2

Wilms tumor is due to mutations in the

Answer 2

WT1 gene on 11p13

Question 3

characterized by Wilms tumor, aniridia, gonadoblastomas [tumors of the go- nads], and mental retardation [intellectual dis- ability].

Answer 3

WAGR syndrome

Question 4

constellation of defects is due to a microdeletion in chromosome 11 that includes both the PAX6 [aniridia] and WT1 genes that are only 700 kb apart.

Answer 4

WAGR Syndrome

Question 5

consists of renal failure, ambiguous genitalia, and Wilms tumor

Answer 5

Denys-Drash syndrome

Question 6

are a spectrum of severe malformations that represent the primary diseases requiring dialysis and transplantation in the first years of life.

Answer 6

Renal dysplasias and agenesis

Question 7

An abnormality in which numerous ducts are surrounded by undifferentiated cells. Nephrons fail to develop, and the ureteric bud fails to branch, so that the collecting ducts never form.

Answer 7

Multicystic dysplastic kidney

Question 8

may also arise if the interaction between the metanephric mesoderm and the ureteric bud fails to occur.

Answer 8

Renal agenesis

Question 9

produced by the metanephric mesoderm that produces branching and growth of the ureteric bud.

Answer 9

GDNF

Question 10

True or False

mutations in genes that regulate GDNF expression of signaling may result in renal agenesis.

Answer 10

True

Question 11

Genes responsible for Townes-Brock Syndrome

Answer 11

SALL1 ‘

Question 12

Gene thatcauses renal coloboma syndrome

Answer 12

PAX2

Question 13

Mutations in what gene results in branchiootorenal syndrome.

Answer 13

EYA1

Question 14

characterized by anuria, oligohydramnios [decreased volume of amniotic fluid, and hypoplastic lungs secondary to the oligohydramnios.

Answer 14

Potter sequence

Question 15

A flattened face

Answer 15

Potter facies

Question 16

numerous cysts form. It may be inherited as an autosomal recessive or autosomal dominant disorder or may be caused by other factors.

Answer 16

Congenital polycystic kidney disease

Question 17

a progressive disorder in which cysts form from collecting ducts. The kidneys become very large, and renal failure occurs in infancy or childhood.

Answer 17

Autosomal recessive polycystic kidney disease

Question 18

cysts form from all segments of the nephron and usually do not cause renal failure until adulthood.

Answer 18

Autosomal dominant polycystic kidney disease
More common

Question 19

disease linked to mutations in genes that encode proteins localized in cilia and that are important for ciliary function

Answer 19

Ciliopathies

Question 20

characterized by renal cysts, obesity, intellectual disability, and limb defects

Answer 20

Bardet-Biedl syndrome

Question 21

characterized by renal cysts, hydrocephalus, microph- thalmia, cleft palate, absence of the olfactory tract, and polydactyly.

Answer 21

Meckel-gruber syndrome

Question 22

Kidneys remaining in the pelvis close to the common iliac artery

Answer 22

Pelvic kidney

Question 23

kidneys are pushed so close together during their passage through the arterial fork, that the lower poles fuse, forming a

Answer 23

Horseshoe kidney

Question 24

they derive from the persistence of embryonic vessels that formed during ascent of the kidneys. These arteries usually arise from the aorta and enter the superior or inferior poles of the kidneys

Answer 24

Accessory renal arteries

Question 25

the lumen of the intraembryonic portion of the allantois persists

Answer 25

Urachal fistula

Question 26

If only a local area of the allantois persists, secretory activity of its lining resulting in a cystic dilation,

Answer 26

Urachal cyst

Question 27

When the lumen in the upper part persists, it forms a

Answer 27

Urachal sinus

Question 28

a ventral body wall defect in which the bladder mucosa is exposed. Epispadias is a constant feature

Answer 28

Exstrophy of the bladder

Question 29

probably due to failure of the lateral body wall folds to close in the midline in the pelvic region

Answer 29

Exstrophy of the bladder

Question 30

is a more severe ventral body wall defect in which progression and closure of the lateral body wall folds are disrupted to a greater degree than is observed in bladder exstrophy

Answer 30

Exstrophy of the cloaca

Question 31

result from lack of fusion of the paramesonephric ducts in a local area orthroughout their normal line of fusion.

Answer 31

Duplications of the uterus

Question 32

uterus is entirely double

Answer 32

Uterus didelphys

Question 33

Uterus is only slightly indented in the middle

Answer 33

Uterus arcuatus

Question 34

uterus has two horns entering a common vagina

Answer 34

Uterus bicornis

Question 35

In patients with complete or partial atresia of one of the paramesonephric ducts, the rudimentary part lies as an appendage to the well-developed side. Because its lumen usually does not communicate with the vagina, complications are common

Answer 35

Uterus bicornis unicollus with 1 rudimentary horn

Question 36

If the atresia involves both sides

Answer 36

Cervical atresia

Question 37

If the sinovaginal bulbs fail to fuse or do not develop at all

Answer 37

Double vagina or vaginal atresia

Question 38

a small vaginal pouch originating from the paramesonephric ducts usually surround the opening of the cervix

Answer 38

Atresia of the vagina

Question 39

fusion of the urethral folds is incomplete, and abnormal openings of the urethra occur along the ventral aspect of the penis, usually near the glans, along the shaft, or near the base of the penis

Answer 39

Hypospadias

Question 40

the urethral meatus is found on the dorsum of the penis

Answer 40

Epispadias

Question 41

most often associated with exstrophy of the bladder and abnormal closure of the ventral body wall

Answer 41

Epispadias

Question 42

occurs when there is insuf- ficient androgen stimulation for growth of the external genitalia.

Answer 42

Micropenis

Question 43

Micropenis is usually caused by

Answer 43

primary hypogonadism or hypothalamic or pituitary dysfunction.

Question 44

may occur if the genital tubercle splits.

Answer 44

Bifid penis or double penis

Question 45

may appear as a large clitoris or a small penis.

Answer 45

Ambiguous genitalia

Question 46

typically male with a small penis that is open on its ventral surface

Answer 46

Hypospadias

Question 47

both ovarian and testicular tissues are present.

Answer 47

ovotesticular disorders of sex development [formerly called true hermaphrodism],

Question 48

rare disorder in which there is no production of MIS. As a result, the genitalia are normal for a male, but there are varying degrees of remnants of the mUIIerian system, including a uterus and uterine tubes.

Answer 48

Isolated deficiency of mullerian inhibiting substance

Question 49

vagina is present but usually short or poorly developed. The testes are frequently found in the inguinal or IabiaI regions, but spermato— genesis does not occur.

Answer 49

complete androgen insensitivity syndrome [CAIS]

Question 50

In these individuals there is a lack of andro- gen receptors or failure of tissues to respond to receptor—dihydrotestosterone complexes. Consequently, androgens produced by the testes are ineffective in inducing differentiation of male genitalia. B

Answer 50

androgen insensitivity syndrome [AIS].

Question 51

there is virilization to varying degrees,

Answer 51

Mild androgen insensitivity syndrome

Question 52

ambiguous genitalia may be present, including clitoromegaly or a small penis with hypospadias. Testes are usually undescended in these cases.

Answer 52

partial androgen insensitivity syndrome [PAIS]

Question 53

causes ambiguous genita- lia in males and is due to an inability to convert testosterone to dihydrotestosterone because of a lack of the reductase enzyme.

Answer 53

5-a-Reductase deficiency [5-ARD]

Question 54

causes ambiguous genita- lia in males and is due to an inability to convert testosterone to dihydrotestosterone because of a lack of the reductase enzyme.

Answer 54

5-a-Reductase deficiency [5-ARD]

Question 55

Patients may have decreased fertility, small testes, and decreased testosterone levels. Gynecomastia [enlarged breasts] is present in approximately 33% of affected individuals. Nondisjunction of the XX homologues is the most common causative factor.

Answer 55

Klinefelter syndrome

Question 56

oocytes are absent, and the ovaries appear as streak gonads. Individuals are phenotypically female but may have a variety of chromosomal complements, including XY.

Answer 56

Gonadal dysgenesis

Question 57

results from point mutations or deletions of the SRY gene. Individuals appear to be normal females but do not men- struate and do not develop secondary sexual characteristics at puberty.

Answer 57

XY female gonadal dysgenesis [Swyer syndrome]

Question 58

They have a 45,X karyotype and short stature, high- arched palate, webbed neck, shield-like chest, cardiac and renal anomalies, and inverted nipples

Answer 58

Turner syndrome

Question 59

intestinal loops may descend into the scrotum, causing a

Answer 59

Congenital indirect inguinal hernia

Question 60

Sometimes, obliteration of this passageway is irregular,leaving small cysts along its course. Later, these cysts may secrete fluid, forming a

Answer 60

hydrocele of the testis and/or spermatic cord

Question 61

one or both testes fail to descend.In such a case, portions of scend. The condition is called

Answer 61

Cryptochidism