Study Questions for Chapter 15

1.  One day a 9-year-old girl surprisingly an- (D) congenital adrenal hyperplasia
nounces to her mother, “Guess what, mommy, (E) lack of androgen receptors
I’m not a girl; I’m a boy.” The mother is shocked
but does act on the comment. During the next 5.  In the male, failure of the urethral folds to
few years, the mother notices some tomboyish fuse completely results in
behavior and difficulty in social adjustment at (A) hypospadias
school. When the girl is 12 years old, puberty (B) epispadias
starts with a striking virilization of the external (C) cryptorchidism
genitalia. The mother is extremely concerned (D) congenital inguinal hernia
and seeks medical attention. What is the most (E) hydrocele
likely cause?
(A) Male pseudo-intersexuality 6.  The Y chromosome carries a gene on its
(B) Female pseudo-intersexuality short arm that codes for
(C) Congenital adrenal hyperplasia (A) testosterone
(D) Testicular feminization (B) MIF
(E) Illegal use of anabolic steroids (C) testes-determining factor (TDF)
(D) progesterone
2.  The most common cause of female pseudo- (E) estrogen
intersexuality is
(A) a 46, XO genotype 7.  Bilateral cryptorchidism usually results in
(B) a 47, XXY genotype (A) impotence
(C) lack of androgen receptors (B) sterility
(D) congenital adrenal hyperplasia (C) male pseudo-intersexuality
(E) inadequate production of testosterone (D) female pseudo-intersexuality
and Müllerian-inhibiting factor (MIF) (E) testicular feminization syndrome

3.  The most common cause of male pseudo- 8.  A 17-year-old girl presents with a complaint
intersexuality is of amenorrhea. Physical examination reveals
(A) a 45, XO genotype good breast development and normal amount
(B) a 47, XXY genotype of pubic hair. A rudimentary vagina and a mo-
(C) inadequate production of testosterone bile mass within both the right and left labia
and MIF majora are found on pelvic examination. Ultra-
(D) congenital adrenal hyperplasia sound reveals the absence of a uterus. What is
(E) lack of androgen receptors the diagnosis?
(A) Testicular feminization syndrome
4.  The most common cause of testicular (B) Gonadal dysgenesis
­feminization syndrome is (C) Cryptorchidism
(A) a 45, XO genotype (D) Female pseudo-intersexuality
(B) a 47, XXY genotype (E) Hypospadias
(C) inadequate production of testosterone
and MIF

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 Answers and Explanations

1. A.  Reduced levels of androgens during fetal development of an XY male fetus cause a feminiza-
tion of the male external genitalia such that the baby can be phenotypically mistaken for female.
Parents raise the XY male baby as a girl until puberty or other medical problems bring the child
to medical attention.
2. D.  Female pseudo-intersex individuals have a 46, XX genotype. This condition is most com-
monly caused by congenital adrenal hyperplasia, in which the fetus produces excessive
amounts of androgens. The high androgen level will masculinize the female genitalia.
3. C.  Male pseudo-intersex individuals have a 46, XY genotype. This condition is most commonly
caused by inadequate production of testosterone and MIF by the fetal testes. The low testoster-
one and MIF levels will stunt the development of the male genitalia.
4. E.  The most common cause of testicular feminization syndrome is the lack of androgen recep-
tors in the urogenital folds and labioscrotal swellings. Because these tissues lack androgen re-
ceptors, they are blind or unresponsive to androgens. Consequently, these tissues develop into
female external genitalia even though the fetus has a 46, XY genotype.
5. A.  Failure of the urethral folds to fuse completely results in the external urethral orifice opening
onto the ventral surface of the penis, a condition known as hypospadias.
6. C.  The gene product that is coded on the short arm of the Y chromosome is called the TDF.
7. B.  Sterility is a common result of bilateral cryptorchidism. When both testes fail to descend into
the scrotum, the increased temperature to which they are exposed in the abdominal cavity will
inhibit spermatogenesis.
8. A.  This is a classic case of testicular feminization syndrome. A karyotype analysis would reveal
that this normal-appearing 17-year-old girl actually has a 46, XY genotype. The mobile masses
within the right and left labia majora are the testes and should be surgically removed because
this tissue has a propensity toward malignant tumor formation. The most common cause of
this syndrome is a lack of androgen receptors in the phallus, urogenital folds, and labioscrotal
swellings.

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