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A 15-year-old girt is brought to the physician because she has not started to menstruate.
The patient is otherwise healthy and has no previous medical problems. Her height and
weight are in the 60th percentile. and vital signs are normal. Physical examination shows
Tanner stage IV breast development and pubic hair, normal external female genitalia, and
shaved axillary hair. On bimanual examination, the vagina feels short and the cervix and
uterus are not palpable. Pelvic ultrasonography shows 2 normal-size ovaries and no
uterus. Which of the following Is the most likely cause of this patient's condition?

0 A. S-a-reductase deficiency
0 B. Androgen insensitivity syndrome
r- C. Imperforate hymen
u D. Mullerian agenesis
0 E. Turner syndrome

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A 15-year-old glrlls brought to the physician because she has not started to menstruate.
The patient Is otherwise healthy and has no previous medical problems. Her height and
weight are In the 60th percentile, and vital signs are normal. Physical examination shows
Tanner stage IV breast development and pubic hair, normal external female genitalia, and
shaved axillary hair. On bimanual examination, the vagina feels short and the cervix and
uterus are not palpable. Pelvic ultrasonography shows 2 normal-size ovaries and no
uterus. Which of the following is the most likely cause of this patienfs condition?

A. 5-o-reductase deficiency (1 %)
B. Androgen insensitivity syndrome (9%)
C. Imperforate hymen (1%]
D. MUllerian egenesis (87%)
E. Turner syndrome (1%]
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Explanation : User ld

Disorders of sexual development

Breast Reproductive Axillary

Diagnosis Cause & pubic Karyotype
development organs
hair

Complete Absent uterus

X-hnked mutation & upper Minimal
androgen
of androgen Yes vagma; to 46,XY
insensitivity
syndrome receptor cryptorchid absent
testes

Mullerian
agenesis Absent or
rudimentary
(Mayer- Hypoplastic or
uterus&
Rokitansky- absent mOIIenan Yes Normal 46,XX
upper vagma;
KOster- ductal system
normal
Hauser ovanes
syndrome)

. . ...
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j Female Reproductive System & Breast Feedback End Block
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Explanation: User

D i sorders of sexual development

Breast Reproductive Axillary

Diagnosis Cause & pubic Karyotype
development organ.s
llair

Absent uterus
Complete
androgen X-hnked mutatiOn &upper Minimal
of androgen Yes vagtna; to 46,XY
insensitivity
syndrome receptor cryptorchid absent
testes

MUllerian
agenesis Absent or
rudimentary
(Mayer- Hypoplastic or
uterus &
Rokitansky- absent mOIIerian Yes Normal 46, XX
upper vagrna;
KOster- ductal system
normal
Hauser ovanes
syndrome)

Normal
Transverse uterus,
Malformation of
vagi nal abnormal
urogenital stnus Yes
vagma;
Normal 46,XX
septum & MOIIenan ducts
normal
ovanes

Vanable
Complete/partial Normal uterus
Turner (depen~mg
syndrome absence of 1 & vagina; Normal 45,X
onovanan
X chromosome streak ovaries
function)

This patient's female phenotype, normal ovaries, abnormal vagina, and absent uterus
precluding menstruation Is consistent with Mullerian agenesis (also known as Mayer-
Rokitansky-KOster-H auser syndrome). Mullerian agenesis affects 46, XX females and is
characterized by the failure of th e mOIIerian ductal system to differentiate Into a uterus.
cervix, and upper vagina. However, the gonads (ovaries) and external genitalia (eg,
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Variable
Complete/partial Normal uterus
Turner (depending
syndrome absence of 1 & vagina; Normal 45,X
on ovarian
X chromosome streak ovaries
function)

This patient's fema le phenotype, normal ovaries, abnormal vagina, and absent uterus
precluding menstruation Is consistent with Mullerian agenesis (also known as Mayer-
Rokitansky-KOster-Hauser syndrome). Mullerian agenesis affects 46, XX females and Is
characterized by the failure of the mOIIerian ductal system to differentiate into a uterus,
cervix, and upper vagina. However. the gonads (ovaries) and external genitalia (eg,
labia, clitoris) develop normally. Breast development and body hair growth are also
normal.

(Choice A) Individuals with 5-o-reductase deficiency cannot convert testosterone to the

more potent dihydrotestosterone (DHT). They have a 46, XY genotype, male Internal
genitalia, and female or undermasculinlzed external genitalia at birth. At puberty, they
experience masculinization due to testosterone (eg, increase in phallus size. muscle
growth, voice deepening) but lack breast development.

(Choice B) Individuals with androgen Insensitivity have a 46, XY karyotype and a

defective androgen receptor that results In end-organ resistance to androgens. These
patients have testicular secretion of anti-Mi.illerian hormone, which results In male
internal genitalia. However, the testicular testosterone is converted to estrogen, resulting
in breast development.

(Choice C) An Imperforate hymen can result in an apparent amenorrhea due to vaginal

obstruction. It can be distinguished from Mullerian agenesis by cyclic abdominal pain,
the presence of a uterus, and the visualization of an imperforate hymen and
hematocolpos.

(Choice E) Patients with Turner syndrome have a 45, XO genotype, short stature, and
small, nonfunctional ovaries. They do not typically develop secondary sexual
characteristics.

Educational objective:
Patients with MOIIerlan agenesis are phenotypically and genotypically female. They
experience breast development and body hair grown at puberty but do not menstruate
due to a congenitally absent or underdeveloped uterus, cervix, and upper vagina.

References:
1. ACOG Committee opinion : no. 562: mi.illerian agenesis: diagnosis,
management, and treatment.

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@UWO!Id

This patient's female phenotype, normal ovaries, abnormal vagina, and absent uterus
precluding menstruation Is consistent with Mullerian agenesis (also known as Mayer-
Rokitansky-Kuster-Hauser syndrome). Mullerian agenesis affects 46, XX females and Is
characterized by the failure of the mOIIerian ductal system to differentiate into a uterus,
cervix, and upper vagina. However. the gonads (ovaries) and external genitalia (eg,
labia, clitoris) develop normally. Breast development and body hair growth are also
nonnal.

(Choice A ) Individuals with 5-o-reductase deficiency cannot convert testosterone to the

more potent dihydrotestosterone (DHT). They have a 46, XY genotype, male Internal
genitalia, and female or undermasculfniz.ed external genitalia at birth. At puberty, they
experience masculinization due to testosterone (eg, increase in phallus size. muscle
growth, voice deepening) but lack breast development.

(Choice B) Individuals with androgen insensitivity have a 46, XY karyotype and a

defective androgen receptor that results in end-organ resistance to androgens. These
patients have testicular secretion of anti-Mullerian honnone, which results In male
internal genitalia. However, the testicular testosterone is converted to estrogen, resulting
in breast development.

(Choice C) An Imperforate hymen can result in an apparent amenorrhea due to vaginal

obstruction. It can be distinguished from Mullerian agenesis by cyclic abdominal pain,
the presence of a uterus. and the visualization of an imperforate hymen and
hematocolpos.

(Choice E) Patients with Turner syndrome have a 45, XO genotype, short stature, and
small, nonfunctional ovaries. They do not typically develop secondary sexual
characteristics.

Educational objective:
Patients with MOIIerlan agenesis are phenotypically and genotypically female. They
experience breast development and body hair grown at puberty but do not menstruate
due to a congenitally absent or underdeveloped uterus, cervix, and upper vagina.

References:
1. ACOG Committee opinion: no. 562: mullerian agenesis: diagnosis,
management, and treatment.
2. Amenorrhea : an approach to diagnosis and management.

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