Professor Elof Carlson
Spring 2000
Name:________________________________________________________
first[given name] last[family name]
ID or SS number:________________________________________________
1. What is the source of the vas deferens?
a) genital tubercle
b) wolffian duct
c) genital folds
d) mullerian duct
e) genital swelling
2. What is the name applied to the symbolic representation 46,XY/46,XX
a) mosaic
b) aneuploidy
c) polyploidy
d) chimera
e) non-identical twins
3. Which one of the following involves female pseudohermaphroditism?
a) congenital insensitivity to androgen syndrome
b) congenital persistence of the mullerian derivatives
c) Klinefelter syndrome
d) Turner syndrome
e) congenital adrenal hyperplasia syndrome
4. What is the karyotype of a person with Turner syndrome
a) 47,XXX
b) 47,XYY
c) 45,X
d) 47,XXY
e) 45,Y
5. According to Dean Mader, a person who is exclusively gay has
a) a recessive gene on Xq28
b) a karyotype of 47,XXY
c) a mutation in the SRY gene
d) no receptors for testosterone
e) a dominant mother and shy father
6. What is the origin of a woman's oviducts?
a) wolffian ducts
b) genital tubercle
c) genital folds
d) genital swellings
e) mullerian ducts
7. What day of a woman's menstrual cycle is associated with her maximum fertility
a) 14
b) 1
c) 20
d) 5
e) 25
8. A zygote with a karyotype of 47,XYY is most likely to end up with which one of the following symptoms
a) small hard testes
b) mild mental retardation
c) streak ovaries
d) bifid scrotum
e) internal oviducts, uterus, and upper vagina
9. The term libido refers to
a) the fused area of the wolffian ducts
b) the structure formed from the genital tubercle
c) the area between the anus and the lower labial junction
d) sexual energy or drive
e) the corpus luteum after it atrophies
10. What is the source of a male's penile shaft?
a) genital swellings
b) wolffian ducts
c) genital folds
d) mullerian ducts
e) genital tubercle
11. If a male has no receptors for MIS, he is most likely to have
a) a clitoris
b) enlarged breasts at puberty
c) pea sized testes
d) a uterus
e) webbed neck
12. If a zygote is 46,XY but the SRY gene is missing due to a mutation, the resulting child is
a) a normal male with a uterus, oviducts, and upper vagina
b) a normal female with a penis and a bifid scrotum
c) a normal female with streak gonads
d) a sterile male, otherwise normal
e) a true hermaphrodite
13. What aspect of the gonads is associated with the cortical region
a) Sertoli cell formation
b) Leydig cell formation
c) production of cortisol
d) conversion of testosterone into dihydrotestosterone
e) germinal epithelium of the ovary
14. A prenatal diagnosis reveals an embryo that is 47,XXY. The most likely outcome will be
a) Klinefelter syndrome
b) Turner syndrome
c) true hermaphroditism
d) male pseudohermaphroditism
e) female pseudohermaphroditism
15. What is the origin of epididymis?
a) mullerian duct
b) wolffian duct
c) genital tubercle
d) genital swellings
e) genital folds
16. the term paraphilia applies to
a) a person who lacks the tip of the X or Y chromosome
b) the size of the testes
c) the onset of the first menstrual cycle
d) a person who requires photographs of nude women to get aroused
e) failure of an adolescent to develop pubic hair
17. What structure in the male is homologous to the labia majora of a female?
a) penile shaft
b) epididymis
c) scrotum
d) ejaculatory duct
e) penile glans
18. What is the blastocyst?
a) the ball of cells produced by cleavage
b) either of the two cells from the zygote's first division
c) the implanting unit which establishes a pregnancy
d) the inner lining of the uterus
e) the region of the gonads that forms the germinal epithelium
19. What hormone is associated with the maintenance of pregnancy
a) progesterone
b) FSH
c) dihydrotestosterone
d) testosterone
e) cortisol
20. Which of the following is the last to occur
a) formation of the gonads
b) formation of the mullerian ducts
c) formation of the wolffian ducts
d) formation of the primordial germ cells
e) formation of the penis and scrotum
21. A 46,XY embryo lacks receptors to testosterone. The resulting baby will have
a) a vulva
b) uterus, oviducts, and upper vagina
c) penis and bifid scrotum
d) pubic hair and an enlarged penis
e) dwarf stature
22. What is the source of a male's penile head or glans?
a) wolffian ducts
b) genital tubercle
c) mullerian ducts
d) genital swellings
e) genital folds
23. If a zygote is 47,XXX, the most likely expectation later in this person's life cycle is
a) pea sized testes
b) webbed neck
c) penis and bifid scrotum
d) premature menopause
e) sterility
24. Which one of the following is dependent on the hormone dihydrotestosterone for formation
a) uterus
b) breasts
c) penile shaft
d) epididymis
e) seminiferous tubules
25. During which day of the menstrual cycle is estrogen likely to predominate [= be at its maximum]
a) 14
b) 1
c) 8
d) 25
e) 19
a) mullerian ducts: the structures that in the female form the uterus, oviducts, and upper vagina [or that form the internal genitalia of the female[+4]
b) Graafian follicle: a mature egg [+3] in a blister-like sac filled with fluid [+1]
c) FSH: the hormone of the anterior pituitary [+1] that stimulates egg or sperm production [+3]
d) genital folds: the structure that in the male forms the penile shaft [+2] and in the female forms the labia minora[+2]
e) Leydig cells: testicular cells [+1] that produce testosterone [+3]
f) sex reversal: an XY female [+2] or an XX male [+2]
g) cortisol: a hormone of the adrenal cortex [+1], that regulates the production of ACTH [+3] or that when not made leads to excess growth of the adrenal cortex [+2}
h) PGC: a cell that forms the future sperm or eggs [or that forms the future reproductive cells or gametes] [+4] or [a cell located in the junction of the umbilicus and gut tube that migrates to the neutral gonads and leads to their differentiation into testes or ovaries] [+4]
i) corpus luteum: the progesterone producing [+3] area of the ovary formed from the burst Graafian follicle [+1]
j) Sertoli cell: a cell that makes MIS [+4] or a cell of the seminiferous tubules that helps immature reproductive cells become sperm [+4]
B. Essay [counts 60 points]
At a municipal hospital the grand rounds for medical students presents four cases. In each case provide the information to the questions associated with the clinical description that is given.
EACH OF THE FOUR QUESTIONS IS 15 POINTS AND HENCE EACH PIECE, a THROUGH e, IS WORTH 3 POINTS.
Case 1. The baby born has diminished cortisol, elevated testosterone, elevated ACTH, a penis and a bifid [split] scrotum. Physical examination reveals no sperm transport system but there is uterus, oviducts, and vagina present. The baby has two ovaries.
a) what is the name of this syndrome?
Congenital adrenal hyperplasia syndrome
[if student only says female pseudohermaphrodite give +2]
b) what caused the diminished cortisol?
An autosomal mutation that blocked formation of it [ or = can't form this steroid because pathway is mutated]
c) what is the likely karyotype of this baby?
46,XX
d) why is there no sperm transport system?
The adrenal
testosterone was not present when that organ system was formed and hence it [= wolffian ducts] underwent apoptosis
e) explain why the baby has a penis and bifid scrotum:
the diminished cortisol leads to excess ACTH leading to immense growth of the adrenal cortex and excess testosterone that converts the genital tubercle, folds, and swellings [=external genitalia] into a penis and bifid scrotum.
Case 2. An adult male has had surgery for severe abdominal pain. The surgeon removed a uterus, oviducts, and upper vagina. The pain was associated with endometriosis. He has two testes, shaves regularly, is married, and is the biological father of two children.
a) what is the name of this syndrome?
Congenital persistence of the
mullerian derivatives [or ducts]
b) what is the reason he has a uterus, oviducts, and upper vagina?
He lacks receptors to MIS in his mullerian ducts
c) what is his karyotype?
46,XY
d) Discuss the status (normal, abnormal) of his leydig cells:
they are normal; they produce testosterone which works fine
e) If he has a uterus, why doesn't he have a vulva?
The testosterone
converted his genital tubercle folds and swellings [=external genitalia] into a penis and scrotum
Case 3. A young woman has been referred for primary amenorrhoea (no menstrual periods). She has normal sized adult female breasts but no pubic or axillary hair. She has female body shape. She has two internal testes. She lacks a uterus, oviducts, and upper vagina. Her lower vagina is short.
a) What is her karyotype?
46,XY
b) What is her probable level of testosterone?
That of a normal adult
male
c) What is her probable level of estrogen and progesterone?
None/Zero
d) Why does she lack a uterus, oviducts, and upper vagina?
Her
testes
produced MIS which worked fine and caused apoptosis of her mullerian ducts
e) why does she have a vulva?
She lacks receptors to testosterone
and
thus the genital tubercle, folds and swellings [=external genitalia] are directed to female develoopment
Case 4. A high school student who has a penis but relative small and hard testes was examined because he was growing female sized breasts. He does not shave and has scanty pubic hair. He is mildly retarded but understands his situation and is embarrassed by his breasts. He rarely has interests in sex whether heterosexual or homosexual.
a) what is the name of his medical condition?
Klinefelter syndrome
b) What is his genotype?
47,XXY
c) Discuss his prospects for fertility if he receives hormone
therapy.
He is sterile [= azoospermia] [or = if he has a sperm donor and IVF he can become a father]
d) What are his testosterone levels likely to be?
Reduced
below normal for his age
e) What was the fate of his mullerian ducts?
They responded to MIS
and underwent apoptosis [ or = he has none]
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