Chapter 16: Urogenital system

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, mutations in the ____ on ____, and it may be associated with other abnormalities and syndromes

Answer 2

WT1 gene - 11p13

Question 3

_____ is characterized by Wilms tumor, aniridia, gonadoblastomas [tumors of the gonads], and mental retardation [intellectual disability]

Answer 3

WAGR syndrome

Question 4

____ consists of renal failure, ambiguous genitalia, and Wilms tumor

Answer 4

Denys-Drash syndrome

Question 5

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

Answer 5

Renal dysplasias and agenesis

Question 6

______ is one example of this group of abnormalities 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. In some cases, these defects cause involution of the kidneys and ____

Answer 6

Multicystic dysplastic kidney - renal agenesis

Question 7

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

Answer 7

GDNF

Question 7

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

Answer 7

Potter sequence

Question 8

Gene _____, responsible for Townes—Brock syndrome; _____ that causes renal coloboma syndrome; and ____ that results in branchiootorenal syndrome

Answer 8

SALLI - PAXZ - EYAI

Question 9

______, cysts form from all segments of the nephron and usually do not cause renal failure until adulthood.
More common [1/500 to I/I,OOO births] but less progressive than the autosomal recessive disease

Answer 9

autosomal dominant polycystic kidney disease [ADPKD]

Question 9

Both types of disease are linked to mutations in genes that encode proteins localized in cilia and that are important for ciliary function. These abnormalities belong to a growing group of diseases called the _____ that are due to mutations in cilia-related proteins

Answer 9

ciliopathies

Question 9

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

Answer 9

congenital polycystic kidney disease

Question 10

________, which occurs in I/5,000 births, is a progressive disorder in which cysts form from collecting ducts. The kidneys become very large, and renal failure occurs in infancy or childhood

Answer 10

Autosomal recessive polycystic kidney disease [ARPKD]

Question 11

____, characterized by renal cysts, obesity, intellectual disability, and limb defects, and _____, characterized by renal cysts, hydrocephalus, microphthalmia, cleft palate, absence of the olfactory tract, and polydactyly

Answer 11

Bardet-Biedl syndrome - Meckel-Gruber syndrome

Question 12

When the lumen of the intraembryonic portion of the allantois persists, a ____ may cause urine to drain from the umbilicus

Answer 12

urachal fistula

Question 12

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

Answer 12

urachal cyst

Question 13

When the lumen in the upper part persists, it forms a ____. This sinus is usually continuous with the urinary bladder

Answer 13

urachal sinus

Question 14

A ventral body wall defect in which the bladder mucosa is exposed. Epispadias is a constant feature, and the open urinary tract extends along the dorsal aspect of the penis through the bladder to the umbilicus. Due to failure of the lateral body wall folds to close in the midline in the pelvic region

Answer 14

Exstrophy of the bladder

Question 14

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 14

Exstrophy of the cloaca

Question 15

Duplications of the uterus, result from lack of fusion of the paramesonephric ducts in a local area or throughout their normal line of fusion. ln its extreme form, the uterus is entirely double [______]. In the least severe form, it is only slightly indented in the middle [_____]

Answer 15

uterus didelphys - uterus arcuatus

Question 16

One of the relatively common anomalies is the ___ in which the uterus has two horns entering a common vagina.This condition is normal in many mammals below the primates

Answer 16

uterus bifuse

Question 16

In ______, 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 16

hypospadias

Question 17

Rare abnormality [1/30,000 births] in which the urethral meatus is found on the dorsum of the penis. Occur as an isolated defect, it is most often associated with exstrophy of the bladder and abnormal closure of the ventral body wall.

Answer 17

Epispadias

Question 18

_____, occurs when there is insufficient androgen stimulation for growth of the external genitalia. Usually caused by primary hypogonadism or hypothalamic or pituitary dysfunction. By definition, the penis is 2.5 standard deviations below the mean in length as measured along the dorsal surface from the pubis to the tip with the penis stretched to resistance. ______ may occur if the genital tubercle splits

Answer 18

Micropenis - Bifid penis or double penis

Question 18

Micropenis, occurs when there is ______ for growth of the external genitalia. Usually caused by primary hypogonadism or hypothalamic or pituitary dysfunction.

Answer 18

insufficient androgen stimulation

Question 19

______ may appear as a large clitoris or a small penis. A child may be born with a typically female appearance, but with a large clitoris [clitoral hypertrophy] or typically male with a small penis that is open on its ventral surface [hypospadias]

Answer 19

Ambiguous genitalia

Question 20

Advances in molecular genetics has allowed rapid and accurate diagnoses of the varying conditions caused by ______, but assigning gender is a more controversial issue

Answer 20

disorders of sex development [DSD]

Question 20

In cases of _______ [formerly called true hermaphrodism], both ovarian and testicular tissues are present. Gonadal tissue may be any combination of ovary, testis, or ovotestis, which is present in two thirds of cases. Genitalia are always ambiguous, but there is a tendency toward masculinization. In 70% of cases, the karyotype is 46,XX

Answer 20

ovotesticular disorders of sex development

Question 21

______ are females that have been exposed to excessive amounts of androgenic compounds that masculinize the external genitalia causing them to be ambiguous

Answer 21

Individuals with 46,XX DSD

Question 22

______ is the most common cause of ambiguous genitalia, accounting for approximately 60% of all DSDs

Answer 22

Congenital adrenal hyperplasia [CAH]

Question 23

in CAH, 90% of patients, there is a ______, inherited as an autosomal recessive trait that results in a mineralocorticoid deficiency and an increase in androgenic compounds

Answer 23

21-hydroxylase enzyme deficiency

Question 24

Another form of CAH is caused by a deficiency of _______ that results in a decrease in prenatal and pubertal sex steroids

Answer 24

17—a-hydroxylase

Question 24

A rarer form of CAH is caused by a deficiency of ______ that causes similar biochemical effects and, therefore, similar effects on the external genitalia

Answer 24

11-B—hydroxylase

Question 25

_________, isolated deficiency of mullerian inhibiting substance [MIS; also called anti-mullerian hormone [AMH]] is a rare disorder in which there is no production of MIS

Answer 25

46,XY Disorders of Sex Development

Question 26

46,XY Disorders of Sex Development, isolated deficiency of ________; also called anti-mullerian hormone [AMH]] is a rare disorder in which there is no production of MIS

Answer 26

mullerian inhibiting substance [MIS

Question 27

Another cause of sexual ambiguity in males is the ______

Answer 27

androgen insensitivity syndrome [AIS]

Question 27

46,XY Disorders of Sex Development, isolated deficiency of mullerian inhibiting substance [MIS; also called _______] is a rare disorder in which there is no production of MIS

Answer 27

anti-mullerian hormone [AMH]

Question 28

In patients with _______, a vagina is present but usually short or poorly developed. The testes are frequently found in the inguinal or labial regions, but spermatogenesis does not occur

Answer 28

complete androgen insensitivity syndrome [CAIS]

Question 29

Other patients have ______ or ______. With the mild form, there is virilization to varying degrees, but with the partial form, ambiguous genitalia may be present, including clitoromegaly or a small penis with hypospadias. Testes are usually undescended in these cases

Answer 29

mild androgen insensitivity syndrome [MAIS] - partial androgen insensitivity syndrome [PAIS] forms of the disorder

Question 30

_______ is another condition that causes ambiguous genitalia in males and is due to an inability to convert testosterone to dihydrotestosterone because of a lack of the reductase enzyme. Without dihydrotestosterone, external genitalia do not develop normally and may appear male but be underdeveloped with hypospadias, or they may appear to be female with clitoromegaly

Answer 30

5-a-Reductase deficiency [5-ARD]

Question 31

_______, with a karyotype of 47,XXY [or other variants, e.g., XXXY], is the most common sex chromosome disorder occurring with a frequency of 1 per 1,OOO males. 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 31

Klinefelter syndrome

Question 32

______, 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 32

Gonadal dysgenesis

Question 33

_______ results from point mutations or deletions of the SRY gene

Answer 33

XY female gonadal dysgenesis [Swyer syndrome]

Question 34

Patients with ______ also have gonadal dysgenesis

Answer 34

Turner syndrome

Question 35

If this passageway remains open, intestinal loops may descend into the scrotum, causing a _______. Later, these cysts may secrete fluid, forming a _________

Answer 35

congenital indirect inguinal hernia - hydrocele of the testis and/or spermatic cord

Question 36

The condition is called ________ and may be caused by decreased androgen [testosterone] production

Answer 36

cryptorchidism