Embryology

Question 1

Wolffian duct becomes…

Answer 1

SEED

seminal vesicle

epidydimus

ejaculatory duct

ductus deferens

NOT THE PROSTATE

Female remnant is the Garnder duct

Question 2

Kartagener syndrome (1° ciliary dyskinesia)

Answer 2

immotile cilia due to a dynein arm defect. Results in male and female infertility due to immotile sperm and dysfunctional fallopian tube cilia, respectively; risk of ectopic pregnancy. Can cause bronchiectasis, recurrent sinusitis, and situs inversus (e.g., dextrocardia on CXR).

Question 4

Mechanism of fetal alcohol syndrome and presentation

Answer 4

Inhibition of cell migration

Highest risk during 3-8 week of gestation (time of organogenesis)

Presentaiton: incidence of congenital abnormalities, including pre- and postnatal developmental retardation, microcephaly, facial abnormalities (e.g., smooth philtrum, hypertelorism), limb dislocation, heart defects. Heart-lung fistulas and holoprosencephaly in most severe form.

Question 5

Maple Syrup Urine Disease

Answer 5

Blocked degradation of branched amino
acids (Isoleucine, Leucine, Valine) due to α-ketoacid dehydrogenase complex defect and/or B1 defect. Causes α-ketoacids in the blood, especially those of leucine.

-Causes severe CNS defects, intellectual disability, and death, dystonia

Treatment: restriction of isoleucine, leucine, valine in diet, and thiamine supplementation.

AR