Congenital Anomalies

Question 1

Define freemartinism

Answer 1

a genetic female is born as a co-twin to a mal
anastomoses form between placental vessels
female calf receives cells and hormones from the male, so sexual development is altered
females are born sterile Freemartins
males are born normal

grossly, see small vulva, large clitoris, uterus not communicating with vagina

Question 2

Name the most common XY DSD and give its CS

Answer 2

XY SRY+ testicular DSD with female phenotype

TFM mutation causes a lack of androgen receptors in all cells, but AMH is still produced so paramesonephric duct derivatives are absent
normal female external genitalia with no internal tubular structures and male behaviour

Question 3

Define an XX DSD in females

Answer 3

normal females with minor anomalies
extreme version see complete sex reversal

Question 4

Name the 3 patterns of arrested paramesonephric duct development

Answer 4

1. failure of segments to develop (segmental aplasia)
2. failure of caudal parts to fuse and form a single lumen (duplication)
3. failure of caudal parts to fuse with urogenital sinus and become continuous with vagina

Question 5

Define persisted mullerian duct syndrome

Answer 5

retention of paramesonephric duct in males, essentially they have a uterus and testis
can develop hydrometra/pyometra

Question 6

Define segmental aplasia of the mesonephric duct

Answer 6

absence of the epididymal tail
sperm is produced but can not get out of the testes
causes pressure atrophy

Question 7

Define cryptorchidism

Answer 7

incomplete descent of the testis and associated structures
very common condition
retained testis fail to develop and look immature, can even regress over time
compromises fertility and makes the animal prone to neoplasia and torsion

Question 8

Define testicular hypoplasia

Answer 8

the failure of the testis to grow to a normal size, confirmed after puberty