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Embriologi

(B) They are the primitive kidney and ureter that will mature into the adult
urinary tract.
(C) They develop as the primitive kidney and migrate caudally and laterally
to form the mesonephros.
(D) They will serve as the fetal kidney until 16 weeks and the development
of the metanephros.(E) They form the primitive kidney and primitive
upper genital ducts.

DIRECTIONS (Questions 1 through 22): For each of the multiple choice questions in this
section, select the lettered answer that is the one best response in each case.
1. You are counseling a couple about infertility. In your discussion about conception,
tubal disease, and implantation, you explain to them that implantation in the
uterus occurs at which stage of development?
(A) eight-cell embryo
(B) zygote
(C) morula formation
(D) blastocyst
(E) embryonic disk

7.

An amniocentesis results show a fetus with 45XO. In counseling the parents, how
would you explainthat the genetic sex is determined?
(A) at ovulation
(B) at conception
(C) by the presence or absence of testosterone
(D) in the absence of Mllerian-inhibiting factor
(E) psychosocially after birth

8.

A women is worried because she has been taking body-building steroids


through week 10 of herpregnancy. One of the steroids has a strong proportion of
androgens. You explain that androgens can cause which of the following?
(A) paramesonephros to differentiate into the proximal urinary duct system
(B) Wolffian ducts to develop
(C) Mllerian ducts to regress
(D) the primitive vaginal tube to regress
(E) the gonadal ridge to differentiate into a testis

9.

Germ cells arise in which of the following?


(A) germinal epithelium of the gonad
(B) endoderm of the primitive gut
(C) Mllerian duct
(D) mesonephros
(E) ovarian cortex

Questions 2 and 3 apply to the following patient:


A 25-year-old G2 P1 had a previous child with ambiguous external genitalia including
hypertrophied clitoris and labial fusion. She and her partner are carriers of 21-alpha
hydroxylase deficiency.
2.

3.

4.

5.

6.

In this pregnancy you counsel her that her fetus has what chance of recurrence?
(A) 50% chance of recurrence(B) 25% chance of recurrence
(C) <5% chance of recurrence
(D) 100% chance of recurrence
(E) Impossible to predict recurrence because of incomplete penetrance
She would like to prevent a recurrence. You offer her maternal dexamethasone in
order to do which ofthe following?
(A) calm her anxiety
(B) suppress fetal adrenal glad
(C) block fetal genital steroid receptors
(D) provide negative feedback to the maternal pituitary
(E) block transplacental passage of maternal androgens
In counseling a woman about an alcohol binge she had at 6 weeks after her last
menstrual period youexplain that, with the exception of the brain, organogenesis
is completed within how many weeks after her last period?
(A) 4 weeks after ovulation
(B) 10 weeks after ovulation(C) 18 weeks after ovulation
(D) 26 weeks after ovulation
(E) 38 weeks after ovulation
A couple of Southeast Asian ancestry are both thalassemia carriers. In
counseling them you explain thatthe main form of hemoglobin in the normal
fetus is which of the following?
(A) Gower 1
(B) hemoglobin A (HbA)
(C) Gower 2
(D) hemoglobin F (HbF)
(E) Barts hemoglobin
A woman has had a previous child with renal agenesis. She is a middle school
biology teacher andwants to understand more about development of the
kidneys. Which of the following best describes the function of pronephros?
(A) They begin the developmental sequence that forms the permanent
excretory ducts and kidneys.

10. You are counseling a 32-year-old nulligravida with breast cancer about
preserving fertility. Youexplain that the maximal number of oogonia is found at
what age?
(A) 1 months gestational age
(B) 5 months gestational age
(C) birth
(D) puberty
(E) 21 years of age
11. The paramesonephric ducts will form which of the following?
(A) the prostatic utricle
(B) seminal vesicles
(C) oviducts, uterus, and upper vagina
(D) upper vagina only(E) the ureters
12. Vaginal epithelium and the fibromuscular wall of the vagina originate from which
of the following,respectively?
(A) mesonephric duct and endoderm of the urogenital sinus
(B) mesonephric duct and the uterovaginal primordium
(C) endoderm of the urogenital sinus and the mesonephric duct
(D) endoderm of the urogenital sinus and the uterovaginal primordium
(E) endoderm of the urogenital sinus and the paramesonephric ducts

13. The urogenital sinus is derived from which of the following?


(A) invagination of the genital ridges
(B) proliferation of the hindgut
(C) partitioning of the endodermal cloaca
(D) a track developing in the genital mesoderm
(E) hyperplasia of the metanephros
Questions 14 and 15 apply to the following scenario:
In counseling a mother with congenital adrenal hyperplasia, you explain in utero
masculinization of female fetuses.
14. The labia majora are homologous to which male body part?
(A) penis
(B) testicle
(C) foreskin
(D) scrotum
(E) gubernaculum testes
15. The female clitoris is homologous to which of the following male body parts?(A)
scrotum
(B) frenulum
(C) prostate
(D) foreskin
(E) penis
16. The absence of the vagina is common in which of the following?
(A) congenital adrenal hyperplasia in a female infant
(B) Turners syndrome
(C) association with an absent or rudimentary uterus
(D) medication-induced fetal masculinization of a female infant(E) gonadal
dysgenesis
17. Which of the following is the result of lack of fusion of the Mllerian duct system?
(A) uterine didelphys
(B) transverse vaginal septum
(C) unilateral renal agenesis
(D) imperforate hymen
(E) ovarian remnant syndrome
18. During early embryonic development the germ cells must migrate. If germ cells
fail to enter thedeveloping genital ridge, which of the following is most likely to
occur?
(A) ovarian teratomas
(B) ectopic pregnancy
(C) ovarian choriocarcinoma
(D) gonadal agenesis
(E) testicular feminization
19. You are giving a lecture to a college physiology class. They are fascinated with
the genetics anddevelopment of hermaphrodites. You explain that true
hermaphrodites have which of the following?
(A) ovaries and testicular remnants

(B) the absence of any Mllerian tissue due to Mllerian-inhibiting factor


(MIF)
(C) 46, XY karyotype
(D) ambiguous genitalia
(E) external genitalia that are responsive to both adrenal and testicular
androgens
20. In the examination of the newborn infant with ambiguous genitalia, which of the
following is true?
(A) gonads that are palpable in the lower inguinal canal are always testes
(B) the presence of descended gonads rules out high testosterone
virilization in an otherwise normalfemale infant
(C) pelvic ultrasound is usually not helpful as a method of assessing a
newborn with ambiguousgenitalia
(D) the presence of a normal uterus rules out the possibility of dysgenetic
testes
(E) if the urethra is superior to the phallus, the infant is a male
21. On ultrasound, a large isolated cyst is seen in the fetal pelvis. At birth a cloaca is
seen in a femalefetus. You explain to the parents that urorectal septum did not
form thus resulting in which of the following?
(A) The single-chambered cloaca did not divide into the urogenital sinus
and anorectal canal.
(B) The junction of the cloacal membrane and urorectal septum become the
labia.
(C) The cloacal membrane differentiated into the urogenital membrane and
the anal membrane.
(D) The urogenital sinus did not form the vagina and the lower bladder wall
to the ureterovesicaljunction.
(E) The urorectal septum did not form a rectum and lower third of the
sigmoid colon.
22. Of the following anomalies, which is (are) most likely to proceed to a term
pregnancy?
(A) uterus didelphys
(B) bicornuate uterus with a rudimentary horn
(C) unicornuate uterus
(D) longitudinal vaginal septum(E) Gartners duct cysts
DIRECTIONS (Questions 23 through 30): The following groups of questions are
preceded by a list of lettered options. For each question, select the one lettered option
that is most closely associated with it. Each lettered option may be used once,
multiple times, or not at all.
Questions 23 through 27
(A) morula
(B) blastocele
(C) trophoblast
(D) embryo
(E) zygote
(F) primitive streak
(G) blastocyst
(H) chorionic plate
(I) fetus

(J)

gamete

4.

(B) Fifty-six days gestational age or 10 weeks after the last menstrual period is
generally accepted as ending the embryonic period. Prior to this time teratogens
can cause severe defects, with partial to complete absence of organ structures,
depending upon the stage of development when the teratogen was present.
Beyond this time period, fetal effects of teratogens are significantly less.

5.

(E) All these types differ in the globin moiety and can be differentiated by
electrophoresis. Fetal hemoglobin (HbF) has more oxygen-binding capacity than
adult hemoglobin (HbA). Gower 1 and Gower 2 are embryonic hemoglobins and
the most primitive of human hemoglobins. They are less efficient oxygen carriers
than HbF.

6.

(A) The pronephros and the mesonephros are two primitive urinary systems that
precede the development of the metanephros which will develop into the mature
urinary system. The mesonephric ducts grow caudally, and by week 5 of
development they open into the lateral wall of the cloaca. The pronephros
degenerate by the end of the fourth week (2 weeks embryologic age) but do
initiate the events that will lead to the formation of the adult kidney and
collecting ducts.

7.

(B) Genetic sex is determined at fertilization by the complement of sex


chromosomes in the fertilizing sperm. If the sperm bears an X, a female is
conceived. If it bears a Y, a male is conceived. The other options pertain to
genital or phenotypical gender that may be different from genetic sex due to
influence of the presence or absence of critical hormones.

8.

(E) Stimulation by testosterone causes the male mesonephric ducts (Wolffian


ducts) to differentiate. Anti-Mllerian factor (MIF) produced by the testes causes
the Mllerian (paramesonephric) ducts to regress. Absence of these hormones
causes the Mllerian ducts to persist and develop independently of the presence
of estrogen. Genital sex is therefore determined by the presence or absence of
functional androgen and MIF.
(B) Primordial germ cells are visible early in the fourth week among the
endodermal cells of the wall of the yolk sac near the origin of the allan-tois.
Migration of primordial germ cells (which will become ova) to the gonadal ridge
occurs early in embryonic life (56 weeks). Germ cells migrate from the primitive
yolk sac to the gonadal ridge by an unknown mechanism.

23. The name applied to the 16-cell mass that precedes the blastocyst
24. A fertilized ovum
25. The name applied to the cells capable of invading endometrium
26. The name applied to the products of conception from the third to the eighth
week after ovulation
27. The name applied to the cell or cells capable of uniting to reproduce
Questions 28 through 30 apply to the following patient:
A 16-year-old girl presents with primary amenorrhea. She has normal breast
development, pubic hair, and axillary hair. Match the diagnosis with the physiologic
explanation.
(A) anomalous partitioning of the vagina
(B) secondary to incomplete or partial canalization of the vaginal plate
(C) anomaly of caudal fusion
(D) Mllerian duct aplasia
(E) in utero exposure to androgenic hormones
(F) anomalous development of the pronephros at 810 weeks after ovulation
(G) maternal viral infection during the first trimester
28. Transverse vaginal septum
29. Absent vagina

9.

30. Imperforate hymen


Answers and Explanations

1.

(D) It is important to recognize that implantation occurs 6 to 7 days after


ovulation and that the embryo is actively growing during this time. Progestinonly contraceptives and the so-called morning-after pill may prevent the
implantation of a growing blastocyst by their effect on the endometrium during
the days between fertilization and implantation. Zygote is a term for the single
fertilized cell with two pronuclei present. An embryo divides to become eight
cells during its transportation through the fallopian tube.

2.

(B) Congenital adrenal hyperplasia-21 alpha hydroxylase deficiency is an


autosomal recessive condition. Thus each parent has a 1:2 chance of passing it
on. Each child has a 25% (1:4) chance of having the disease.

3.

(B) Dexamethasone, given to the mother, crosses the placenta and suppresses
ACTH secreting cells in the fetal pituitary. This inhibits fetal adrenal androgen
secretion and prevents masculinization. The drug does not block fetal genital
receptors. The purpose is not related to maternal androgens or maternal
pituitary since these are not causative of the syndrome. Once the sex of the
fetus is known and if the fetus is male, the androgen treatment can be stopped.

10. (B) An oogonium becomes an oocyte when it enters the first stage of meiosis.
This occurs prior to birth. After birth there is a slow decrease in the number of
oocytes. By menopause none can be found. By 5 months gestation there is a
maximum number of oocytes, of about 4 to 7 million! At birth, the number of
oocytes has decreased to 1 or 2 million. There continues to be attrition of
oocytes during childhood so that by the onset of puberty fewer than 500,000
oocytes remain.
11. (C) The genital ducts (mesonephric or Wolffian and paramesonephric or
Mllerian) are present in both sexes. The mesonephric ducts will become the
male ducts and seminal vesicles. The female paramesonephros will form the
oviducts, uterus, and upper two-thirds of the vagina. The lining of these ducts
becomes the epithelial lining of the adult structures. Muscle and connective
tissue originate from the adjoining mesenchyme. The prostatic utricle and the
appendix testis in the male may indeed be remnants of paramesonephric duct
but are not really formed by the ducts (see Figure 31).

Figure 31. Differentiation of male and female genitalia. (Reproduced, with


permission, from DeCherney AH, Nathan L. Current Obstetric and Gynecologic
Diagnosis and Treatment , 9th ed. New York: McGraw-Hill, 2003.)
12. (D) The vaginal epithelium is derived from the endoderm of the urogenital sinus
while the fibromuscular wall of the vagina develops from the uterovaginal
primordium. In the female, parts of the mesonephric duct persist as the duct of
Gartner in the broad ligament along the lateral wall of the uterus. Occasionally,
women may develop Gartners duct cysts in the lateral vaginal walls. The
paramesonephric duct develops into the uterus, fallopian tubes, broad ligament
structures, and occasionally hydatid cysts of Morgagni.
13. (C) The urogenital sinus is derived from partitioning of the endodermal-derived
embryonic cloaca. It is the precursor to the urinary bladder and the genitalia in
each sex. The cloaca is a pouch on the caudal end of the hindgut that was
formed by folding of the caudal region of the embryonic disk.
14. (D) In infants with ambiguous external genitalia, confusion may arise as to
whether this ru-gated structure is a scrotal sac or a fused labia. The most
common cause of ambiguous genitalia in the newborn is congenital adrenal
hyperplasia (see Figure 32).

Figure 32. Differentiation of the external genitalia. (Reproduced, with


permission, from DeCherney AH, Nathan L. Current Obstetric and Gynecologic
Diagnosis and Treatment , 9th ed. New York: McGraw-Hill, 2003.)
15. (E) The clitoris is a small, erectile body that responds to androgen stimulation
with increased growth. Increasing clitoral size is one sign of virilism. Virilization
can be caused by internal (adrenal or ovarian) androgens or by androgenic
substances such as some progestins that are ingested by the mother.
16. (C) The frequency of vaginal agenesis is about 0.025%. It is due to failure of the
uterovaginal primordium to contact the urogenital sinus. The uterus is usually
absent. Ovarian agenesis is rarely associated with vaginal agenesis. When the
vagina is absent, the greater vestibular glands are still present in most cases. In
Mllerian aplasia, most of the vagina and uterus are absent. It is thought that
80% to 90% of individuals without a vagina have Mllerian aplasia rather than
atresia. One embryologic defect is apt to be associated with others. You should
also look for abnormalities of the urinary tract. In the absence of Mllerian
Inhibitory Factor from testes, the fetus will develop a uterus and vagina as a
default program. In Turners syndrome (XO), which is a form of gonadal
dysgenesis, the uterus and vagina are present. Also in a genetically XY fetus with
gonadal dysgenesis a female phenotype will be formed.
17. (A) The fusion of the Wolffian duct system gives rise to the uterus, cervix, and
upper vagina.
Incomplete fusion may lead to several uterine anomalies from complete
separation with two cervices uterine didelphys to a mild form of incomplete
fusionuterine septae. Unilateral renal agenesis is associated with metanephros
failure. Transverse septum and imperforate hymens are due to lack of dissolution
of the cell cord of the fused Mullerian ducts and the urogenital sinus.

18. (D) If germ cells do not reach the developing ovary, gonadoblastomas may form
with 46, XY karyotype. The ovary does not develop normally. This lack of
development is called gonadal dysgenesis.
19. (D) True hermaphroditism is characterized by ambiguous genitalia at birth. The
gonads maybe any combination of ovary, testis, or ovotestis. Interestingly, a
testis or ovotestis is usually located on the right side. Mllerian structures are
usually present on the side ipsilateral to an ovary or ovotestis. Most true
hermaphrodites are 46, XX with no identifiable Y chromosome but rather small
portions of the Y chromosome incorporated into their genome.
20. (B) The physical examination of the newborn with ambiguous genitalia may
reveal gonads that are palpable in the scrotum or lower inguinal canal. These
gonads may be testes or ovotestes. High circulating androgens in the female
fetus are not sufficient to cause descent of normal ovaries and therefore
descended gonads cannot be ovaries. Pelvic ultrasound is frequently useful in
identifying Mllerian structures while the presence of a normal uterus rules out
the possibility of normal testicular tissue.
21. (A) Only the distal one-third of the vagina is formed from the urogenital sinus.
The proximal vagina is formed by fusion of the Mllerian ducts. This explains
why, in cases of Mllerian agenesis, patients have a rudimentary vagina. The
bladder and rectum are formed from endo-dermal tissue not the urogenital sinus.
22. (E) Abnormalities of fusion of the paramesonephric ducts often cause pregnancy
wastage. The various types of uterine duplication and vaginal malformation that

occur with improper fusion include uterus didelphys, which is a double uterus
with a double vagina, bicornuate uterus with a fusion defect isolated to the
uterine fundus but not vagina, unicornuate uterus with a rudimentary horn, and
a longitudinal septum where a caudal fusion problem exists but uterine fusion is
adequate. Gartners duct cysts do not affect pregnancy in general.
2327. (23-A, 24-E, 25-C, 26-D, 27-J) The zygote is the cell resulting from the union of
the sperm and ovum (egg), the gametes, or the fertilized ovum. Blastocele is the
name applied to the 12 to 16 blastomeres composing the ball of cells from the
division of the zygote. The embryonic period begins at the third week of
development. During this time, most of the major structures are formed, and the
greatest risk from teratogens exists. The fetal period begins in the ninth
developmental week and extends to birth. The ninth week to birth is more
remarkable for rapid growth than for major developmental change. This is a period
of growth and maturation of the existing structures.
Trophoblastic invasion is the process by which the embryo implants into the
uterine lining at the blastocyst stage. The blas-tocele is the fluid-filled cavity that
forms immediately prior to blastocyst formation.
2830. (28-B, 29-D, 30-B) A transverse vaginal septum and an imperforate hymen
imply that canalization of the vaginal plate at its junction with the sinusal
(Mllerian) tubercle did not proceed completely. A longitudinal septum implies that
the caudal fusion of the Mllerian ducts did not result in complete canalization of
the uterovaginal primordium. When the vagina is absent, in most cases it will be
due to aplasia of the Mllerian ducts. When the urogenital sinus persists, it causes
any number of anomalies, most representing either no opening for the anus or an
aberrant opening.

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