Chapter 16: Urogenital system Flashcards
A cancer of the kidneys that usually affects children by 5 years of age but may also occur in the fetus
Wilms Tumor
Wilms Tumor, mutations in the ____ on ____, and it may be associated with other abnormalities and syndromes
WT1 gene - 11p13
_____ is characterized by Wilms tumor, aniridia, gonadoblastomas [tumors of the gonads], and mental retardation [intellectual disability]
WAGR syndrome
____ consists of renal failure, ambiguous genitalia, and Wilms tumor
Denys-Drash syndrome
are a spectrum of severe malformations that represent the primary diseases requiring dialysis and transplantation in the first years of life
Renal dysplasias and agenesis
______ 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 ____
Multicystic dysplastic kidney - renal agenesis
____ produced by the metanephric mesoderm produces branching and growth of the ureteric bud
GDNF
_______, characterized by anuria, oligohydramnios [decreased volume of amniotic fluid], and hypoplastic lungs secondary to the oligohydramnios
Potter sequence
Gene _____, responsible for Townes—Brock syndrome; _____ that causes renal coloboma syndrome; and ____ that results in branchiootorenal syndrome
SALLI - PAXZ - EYAI
______, 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
autosomal dominant polycystic kidney disease [ADPKD]
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
ciliopathies
______, numerous cysts form. It may be inherited as an autosomal recessive or autosomal dominant disorder or may be caused by other factors
congenital polycystic kidney disease
________, 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
Autosomal recessive polycystic kidney disease [ARPKD]
____, 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
Bardet-Biedl syndrome - Meckel-Gruber syndrome
When the lumen of the intraembryonic portion of the allantois persists, a ____ may cause urine to drain from the umbilicus
urachal fistula
If only a local area of the allantois persists, secretory activity of its lining results in a cystic dilation, a ____
urachal cyst
When the lumen in the upper part persists, it forms a ____. This sinus is usually continuous with the urinary bladder
urachal sinus
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
Exstrophy of the bladder
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
Exstrophy of the cloaca
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 [_____]
uterus didelphys - uterus arcuatus
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
uterus bifuse
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
hypospadias
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.
Epispadias
_____, 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
Micropenis - Bifid penis or double penis
Micropenis, occurs when there is ______ for growth of the external genitalia. Usually caused by primary hypogonadism or hypothalamic or pituitary dysfunction.
insufficient androgen stimulation
______ 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]
Ambiguous genitalia
Advances in molecular genetics has allowed rapid and accurate diagnoses of the varying conditions caused by ______, but assigning gender is a more controversial issue
disorders of sex development [DSD]
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
ovotesticular disorders of sex development
______ are females that have been exposed to excessive amounts of androgenic compounds that masculinize the external genitalia causing them to be ambiguous
Individuals with 46,XX DSD
______ is the most common cause of ambiguous genitalia, accounting for approximately 60% of all DSDs
Congenital adrenal hyperplasia [CAH]
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
21-hydroxylase enzyme deficiency
Another form of CAH is caused by a deficiency of _______ that results in a decrease in prenatal and pubertal sex steroids
17—a-hydroxylase
A rarer form of CAH is caused by a deficiency of ______ that causes similar biochemical effects and, therefore, similar effects on the external genitalia
11-B—hydroxylase
_________, 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
46,XY Disorders of Sex Development
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
mullerian inhibiting substance [MIS
Another cause of sexual ambiguity in males is the ______
androgen insensitivity syndrome [AIS]
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
anti-mullerian hormone [AMH]
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
complete androgen insensitivity syndrome [CAIS]
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
mild androgen insensitivity syndrome [MAIS] - partial androgen insensitivity syndrome [PAIS] forms of the disorder
_______ 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
5-a-Reductase deficiency [5-ARD]
_______, 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
Klinefelter syndrome
______, oocytes are absent, and the ovaries appear as streak gonads. Individuals are phenotypically female but may have a variety of chromosomal complements, including XY
Gonadal dysgenesis
_______ results from point mutations or deletions of the SRY gene
XY female gonadal dysgenesis [Swyer syndrome]
Patients with ______ also have gonadal dysgenesis
Turner syndrome
If this passageway remains open, intestinal loops may descend into the scrotum, causing a _______. Later, these cysts may secrete fluid, forming a _________
congenital indirect inguinal hernia - hydrocele of the testis and/or spermatic cord
The condition is called ________ and may be caused by decreased androgen [testosterone] production
cryptorchidism
