Test 2: lecture 14 urogenital 2 Flashcards
Individual with congenital anatomical variations
such that the diagnosis of sex is confused.
intersex
intersex
Individual with congenital anatomical variations
such that the diagnosis of sex is confused.
Genital malformation occurs more frequently in males since many genes are required to take development in the ___.
male direction
Only ___of sex anomalies are due to chromosome aberrations or mutations to a known gene
<15%
Most sex anomalies are due to ___ or aberrant interactions between environmental and genetic factors.
new mutations
sex anomalies seems to be an increase incidence with ___
inbreeding.
genetic sex is based on
XY or XX
gonadal sex is based on
ovaries or testicles
phenotypic sex is based on
external sex organs
vulva vs prepuce
intersex can be classified in 4 types
Genetic sex (XX vs. XY)
Gonadal sex (ovaries vs. testicles)
Phenotypic sex (vulva vs. prepuce)
Behavioral sex
True hemaphrodite
phenotypic (outside sex organs) and gonadal sex doesn’t match
has male and female gonads
testes and ovaries or a combo
reported most frequently in swine, occasionally in dogs
pseudohermaphrodite
phenotypic and gonadal sex is different
gonad of only one sex (ovaries or testes)
occurs most frequently in goats, swine
most genetically female (XX)
may also be mosaic, chimeras
that has both ovarian and testicular tissue in it.
Ovatestis-organ
female pseudohermaphrodite can be produced by
exposure to exogenous androgens during embryonic life
Female pseudohermaphrodite - phenotypically resembles a male (penis) but has ovarian tissue.
Male Pseudohermaphrodite
Phenotypically resembles a
female (vulva) but has testicular tissue.
testicles most commonly in the abdominal cavity or beneath the skin in the scrotal region often an enlarged clitoris
term used for hermaphrodite in human medicine
differences of sex development
The Sex Chromosome DSD would include XXY, chimerism, XO variants, XY DSD and XX DSD.
5 ways for sex reversal
Mutation in SRY gene
Base pair substitution DNA-binding domain of SF1
Absence of functional WT1
Duplication or mutation of SOX9
Mutation in androgen receptors
Caprine Polled Intersex Syndrome
XX sex reversal in goats
The genetic sex is XX, but are male pseudohermaphrodites.
hypoplastic testes with Phenotypically female and have an enlarged clitoris, projecting vulva, hypoplastic vagina
dominant inheritance for the polled trait and recessive for sex-reversal.
inhibits forkhead box L2 FOXL2- which is needed for ovarian differentiation and follicle and oocyte maturation.
This problem can be prevented by being sure that either the sire or dam is horned
Previously thought that polled intersex regulated transcript 1 (PISRT1) was involved by repressing SOX9 which is a key regulator of testis differentiation. But research now supports that FOXL2 is solely responsible for this problem in goats
Mode of inheritance for CPI
Mode of inheritance
Dominant for polled trait
Recessive for sex-reversal
Genes affected
PISRT1-anti-testis factor represses SOX9 (key regulator of testis differentiation)
FOXL2-is needed for ovarian differentiation and follicle and oocyte maturation
How is FOXL2 gene changes in PIS goats
FOXL2 expression needed for ovarian differentiation and follicle and oocyte maturation.
In PIS goats the FOXL2 gene expression does not occur. So gonad becomes a testicle.
FOXL2 transcription initiates between 34 and 36 days of gestation in a subpopulation of somatic cells located in the deepest medulla of the XX gonad. This developmental stage corresponds to the gonadic switch i.e., the time point at which male determination is instructed by an increase of SRY→ SOX9 expression in the XY gonad.
how to prevent CPI
Caprine Polled Intersex Syndrome
only breed if sire or dam has horns
Hemopoietic Chimera
“Freemartin”
Female that developed in the same uterus with a male twin and has common blood supply
blastocysts fuse in the uterus about day 18 to 20 of gestation. By 28 days, the allantois chorion and blood vessels of the two placentas have anastomosed. occurs before sexual differentiation, which takes place around 40 to 50 days of gestation.
Males differentiate about 1 week earlier than females. Mullerian Inhibiting Factor produced by Sertoli cells adversely affects the development of the female genitalia. The gonads will be small and undifferentiated. The uterine tubes, uterus and cranial vagina (paramesonephric ducts) are inhibited and the mesonephric duct remnant (vesicular glands) are stimulated. The freemartin usually has female external genitalia but masculinization of the internal genitalia.
If the placentas and blood supply are separate, a normal female will develop (incidence 5-20% of heterosexual bovine twins).
XX/XY chimeras.
New diagnostic methods have improved sensitivity and are based on the detection of Y-chromosome DNA segments by polymerase chain reaction (PCR).
This is the most frequent form of intersexuality found in cattle. occasionally occur in other ruminants, sheep, goats, deer. Rare report in pigs and rhinoceros. freemartins produced when ewes carry 4 or more fetuses.
The male co-twin will also be XX/XY chimera. Great debate regarding reproductive effects in bull calves. Some concern that some bulls may have poorer semen quality.
80-95% of female calves born co-twin to a bull will be a ___. About 5-20% of those females may be normal.
freemartin
male freeman produce what that inhibit female development
Mullerian Inhibiting Factor produced by Sertoli cells adversely affects the development of the female genitalia.
ways to test for freemartin
test tube test
karyotype will be chimeric XX and XY
PCR tests for Y detection
characteristics of a freemartin
- Gonads are quite variable
- Female external genitalia- usually blind ended, coarse hair
- Undeveloped oviduct, uterus, vagina
- Seminal vesicles
In freemartin, The uterine tubes, uterus and cranial vagina (___) are inhibited and the ___remnant (vesicular glands) are stimulated.
paramesonephric ducts
mesonephric duct
economic value of freeman
Dairy – little value as the cannot conceive and lactate.
Beef - carcass value but cannot contribute to genetic gain of herd
Heat detection – estrous behavior when administered testosterone, estradiol or estrone
male freeman can have ___ sperm
poor quality sperm
Male Tortoise Shell Cat
•Color gene carried on chromosome
39 XXY
Small testicles
Undeveloped seminiferous tubules
Klinefelter’s syndrome in men
in male tortoise shell cats, the orange gene is a dominant sex-linked gene on the __chromosome. The __ gene is either a co-dominant allele of the orange gene or is autosomal with its expression being masked by the orange gene
X
black
In male tortoise shell cats, at blastulation or gastrulation one of the __ chromosomes is inactivated in each cell, except in primordial germ cells. Since only one X is active in each cell each epidermal cell can be either orange or black. These cats will have very __ and are sterile due to failure of the seminiferous tubules to develop.
X
small testicles
in male tortoise shell cats, cats will have very small testicles and are sterile due to failure of the ___
seminiferous tubules to develop.
In male tortoise shell cats, The XXY results from non-disjunction of the ___during meiosis. The presence of the Y male determining genes allows for testicle development and subsequent testosterone production. But the extra X chromosome prevents normal spermatogenesis resulting in ___.
sex chromosomes
hypoplastic testes
63 XO Mare
Turner’s syndrome in humans
Small stature
No estrus cycle (ovaries have no follicles)
Small flaccid uterus
‘Streak Ovaries’
A third of cases have renal and cardiac anomalies and abort before 28 weeks in humans
YO condition is ___as cells require an X to function
lethal
Interestingly an embryo can be transferred into a progesterone treated ___ and be carried to term without incident.
63 XO mare
why no follicles in XO mares ovaries
The veterinary textbooks say that there is a failure of primordial germ cells to populate the gonadal ridge during the development of 63 XO fetuses.
In humans there normally is a large number of oocytes that undergo atresia at birth.
A similar thing probably happens in the mare but the research has not be done to prove it.
Persistent Mullerian Duct Syndrome
- Deficiency of paramesonephric inhibitory hormone but with functional testosterone
- Male external genitalia with male internal ducts but also have a oviducts, uterus and cervix and cranial vagina
Reported in Miniature Schnauzers and the Basset Hound. These male dogs can become very ill if they develop pyometra.
dogs with Persistent Mullerian Duct Syndrome will tend to develop what issue?
pyometra
Segmental Aplasia
A portion of the genital tract fails to develop.
A portion of the genital tract fails to develop.
Segmental Aplasia
Fluid accumulation in the oviduct.
Hydrosalpinx
Fluid accumulation in a uterus.
Hydrometra
Acquired hydrosalpinx in a mare. (Fluid accumulation in the oviduct.)
Hydrometra- fluid accumulation in a uterus
This uterus does not have a cervix and the uterine secretions have been trapped in the uterus.
what is wrong
An entire uterine horn is missing in this sow. Segmental aplasia of a uterine horn.
what is wrong
White Heifer Disease - segmental aplasia involving the tubular system, especially the hymen and vagina seen in White Shorthorn Cattle.
what is wrong
Segmental aplasia of the base of one uterine horn is a ewe.
what is wrong
Uterus unicornis. Only one uterine horn in a cow. There is a persistent corpus luteum on the right ovary.
A ___can occur if ovulation takes place on the side that a uterine horn is absent, uterus unicornis
persistent corpus luteum
In cattle, sheep and goats there is an intimate relationship between the uterine vein and the ovarian artery. This anatomical arrangement is necessary to transfer high concentrations of ___ from the nonpregnant uterus to the ovary to cause luteolysis.
prostaglandin F-2a
Luteolysis is defined as structural demise of the corpus luteum, which is preceded by loss of the capacity to synthesize and secrete progesterone.
If a portion of the ___ fails to develop the body, tail, entire epididymis and even a part or all of the ductus deferens may be missing. If unilateral the male may be fertile, if bilateral the male will be ___.
Segmental Aplasia of Wolffian or mesonephric ducts
mesonephric duct
sterile
___ is an ovarian tumor of germ cell origin. Tumor has many different tissue types that may include hair, teeth, nerves, bone, muscle.
teratoma
___ vestibular vaginal fold that fails to spontaneously break.
Persistent hymen
Segmental Aplasia of Wolffian or mesonephric ducts
If a portion of the mesonephric duct fails to develop the body, tail, entire epididymis and even a part or all of the ductus deferens may be missing. If unilateral the male may be fertile, if bilateral the male will be sterile
Preputial adhesions may prevent normal extension of penis during erections. Normally disruption occurs with elevated testosterone concentrations. Can simply cut.
uterus masculinus
is a remnant of the paramesonephric ducts and commonly seen in males located on the urogenital fold between the ampullae and the ductus deferens. May also be called a midline prostatic utricle.
Red arrow points to the left horn of the uterus masculinus. This structure may be seen sonographically when a stallion’s accessary glands are imaged per rectum.
Appendix testis
is a blind ended remnant of the paramesonephros that is located near the head of the epididymis.
Cysts of Gartner’s duct are remnants of the caudal end of the mesonephric or Wolffian ducts in the vestibule. In cats and dogs these are usually seen in the wall of the vagina. In sows they are seen as tubular cords in the wall of the uterus or the wall of the vagina.
Paroophoron cysts are remnants of the mesonephric ducts medial to the ovary found in the mesovarium or fimbria. Their presence should be noted to prevent confusing cysts with a developing follicle.
Epoophoron cysts are remnants of the mesonephric tubules and are located in the ovarian capsule. Their location should be noted to prevent confusing them with a developing follicle.
Epoophoron cysts
are remnants of the mesonephric tubules and are located in the ovarian capsule. Their location should be noted to prevent confusing them with a developing follicle.
double cervix
may result from abnormal fusion and development of the caudal paramesonephric ducts. There is a high incidence of persistence of the medial septum of the caudal cervical os of cows. There can be problems getting a female adequately bred if one side is blind. Theoretically, there may be difficulties at parturition if one leg of the fetus goes through each side of the cervix, but it appears to be little problem as it is seen in multiparous cows.
double cervix
Vaginal strictures
persistent band of tissue may be present due to a failure of the paramesonephric ducts to fuse. The bands of tissue may prevent successful copulation. These can usually be incised without complications.
Vaginal strictures or a persistent band of tissue may be present due to a failure of the paramesonephric ducts to fuse. The bands of tissue may prevent successful copulation. These can usually be incised without complications.
what species is a double penis normal
duck
Remnants of the Duct Systems in males
A uterus masculinus is a remnant of the paramesonephric ducts and commonly seen in males located on the urogenital fold between the ampullae and the ductus deferens. May also be called a midline prostatic utricle.
Appendix testis is a blind ended remnant of the paramesonephros that is located near the head of the epididymis.
Remnants of the Duct Systems in females
Cysts of Gartner’s duct are remnants of the caudal end of the mesonephric or Wolffian ducts in the vestibule. In cats and dogs these are usually seen in the wall of the vagina. In sows they are seen as tubular cords in the wall of the uterus or the wall of the vagina.
Paroophoron cysts are remnants of the mesonephric tubules medial to the ovary found in the mesovarium or fimbria. Their presence should be noted to prevent confusing cysts with a developing follicle.
Epoophoron cysts are remnants of the mesonephric tubules and are located in the ovarian capsule. Their location should be noted to prevent confusing them with a developing follicle.
Failure of Paramesonephric Duct Fusion can lead to
A double cervix may result from abnormal fusion and development of the caudal paramesonephric ducts. There is a high incidence of persistence of the medial septum of the caudal cervical os of cows. There can be problems getting a female adequately bred if one side is blind. Theoretically, there may be difficulties at parturition if one leg of the fetus goes through each side of the cervix, but it appears to be little problem as it is seen in multiparous cows.
Vaginal strictures or a persistent band of tissue may be present due to a failure of the paramesonephric ducts to fuse. The bands of tissue may prevent successful copulation. These can usually be incised without complications.
