Preclass Quiz + some of the syndromes idk i did my best

Urogenital system

T/F Defects of the kidneys are pretty rare and when they occur, they are severe

False, quite common and not usually pathogenic

Kidneys develop from which 2 embryonic structures?

Urteric bud and Metanephrogenic blastema.

A horseshoe kidney i seen in approximately 7% of individuals with which chromosome abnormality

Monosomy X

Bilateral renal agenesis will result in which of the following complications?

Oligohydramnios, pulmonary hypoplasia, and joint contractures

Megacystis is an abnormally enlarged fetal bladder. What is a potential cause of this defect

Trisomy 13 and posterior urethral valve

The chromosomal sex of the embryo is determined at fertilization, however high level 1st trimester ultrasound can potentially detect distinguishing sexual characteristics at which week of gestation? 

Week 12 

____ is the most common defect of the penis and it is caused by an abnormal placement of the external urethral orifice 

Hypospadias 

Incidence of hypospadias

1:125

The most common defect in neonates is ___ where one or both of the testicles are undescended into the scrotum. A defect that happens in approximately 30% of premature male births

Cryptorchidism

Which two hormones are vital to the normal development of the male reproductive tract

anti mullerian hormone and testosterone

T/F neural crest cells are involved in the development of the heart, nervous system, facial structures, and adrenal glands and are considered by many to be the 4th germ layer 

T 

Which of the following features are related to congenital adrenal hyperplasia 

Autosomal recessive inheritance, hypospadias, masculinized females, salt wasting, hypoglycemia, gynecomastia in males, and 21-hydroxylase deficiency

T/F Infants with potter syndrome suffer from renal agenesis, a lethal birth defect, they are otherwise phenotypically normal

False

Which ducts contribute to the development of the female reproductive tract

Paramesonephric ducts

Which ducts contribute to the development of the male reproductive tract 

Mesonephric ducts 

Individuals with ovotesticular DSD may have the following karyotypes. They have both ovarian tissue and testicular tissue and the phenotype can be

either male or female.

46,XY + 46XX/46XY mosaic + 46 XX

Individuals with ovotesticular DS will have have lab tests that indicate ___ They have both ovarian tissue and testicular tissue and the phenotype can be

either male or female.

Sex chromatin positive (+) nuclei 

This type of disorder of sex development is characterized by virlized females from excessive androgen exposure. They are phenotypically female but have ambiguous genitalia.They will have this type of karyotype:

46, XY

This type of disorder of sex development is characterized by virlized females from excessive androgen exposure. They are phenotypically female but have ambiguous genitalia.Their lab tests will indicate __ 

46,XY

This type of DSD is characterized by variable appearing external genitalia due to inadequate virilization of a male fetus. The anomalies are caused by inadequate amounts of testosterone and AMH. Affected individuals will have the following karyotypes

46,XX/46,XY mosaic

This DSD is characterized by variable appearing external genitalia due to inadequate virilization of a male fetus. The anomalies are caused by inadequate amounts of testosterone and AMH Their lab tests will indicate ___________.

Sex chromatin negative (-) nuclei

T/F The urethra in males is developed from both ectodermal and endodermal tissues, however in females it is only endodermal tissues.

True

T/F The adrenal cortex develops from mesenchyme and the adrenal medulla develops from neural crest cells (i.e. they have two different embryonic origins).

True

Potter Syndrome

Pulmonary hypoplasia, oligohydramnios, twisted skin, twisted face, extremites defects, renal agenesis

If the hilum faces anteriorly, what happened?

Failed rotation

If the hilum faces posteriorly

Rotated too far 

What other condition is malrotation associated with

Ectopic kidneys

Horshoe kidney is seen in about __% of girls with what syndrome

Turner syndrome

ARPKD incidence

1:20000 with carrier frequency of 1:71

Megacystis is seen in fetuses with which condition

trisomy 13

A common cause of 46, XX

congenital adrenal hyperplasia

Incidence of androgen insensitivity syndrome

1:20000

A common defect of the penis that occurs in 1:125 male neonates

Hypospadias (glanular hypospadias)