PRIMARY AMNEORRHEAS

1. A 16 years old girl presents with her mother, complaining she has never had menstrual periods. She
states that that all her friends in school have menstruated and she is much worried about it. On
examination she seems to be well nourished, with adult breast development and pubic hairs are in
Tanner stage IV. Pelvic examination shows rudimentary vagina and no uterus is palpable on rectal
examination. Which of the following is the most likely diagnosis?
a) Testicular feminization syndrome
b) Imperforate hymen
c) Turner syndrome
d) Kallman syndrome
e) Mullerian agenesis

2. A 16 years old girl presents with her mother, complaining she has never had menstrual periods. She
states that that all her friends in school have menstruated and she is much worried about it. On
examination she seems to be well nourished, with adult breast development and pubic hairs are in
Tanner stage IV. Pelvic examination shows rudimentary vagina and no uterus is palpable on rectal
examination. What is the most likely karyotype of this girl?
a) 45 XO
b) 46 XX
c) 47 XXY
d) 46 XY
e) 69 XXY
3. A 16 years old girl presents with her mother, complaining she has never had menstrual periods. She
states that that all her friends in school have menstruated and she is much worried about it. On
examination she seems to be well nourished, with adult breast development and there are no pubic
hairs which is assigned as tanner stage I. Pelvic examination shows blind vaginal pouch and no uterus is
palpable. Which of the following is the most likely diagnosis?
a) Testicular feminization syndrome
b) Imperforate hymen
c) Turner syndrome

d) Kallman syndrome
e) Mullerian agenesis

4. A 16 years old girl presents with her mother, complaining she has never had menstrual periods. She
states that that all her friends in school have menstruated and she is much worried about it. On
examination she seems to be well nourished, with adult breast development and there are no pubic
hairs which is assigned as tanner stage I. Pelvic examination shows blind vaginal pouch and no uterus is
palpable on rectal examination. What is the most likely karyotype of this girl?
a) 45 XO
b) 46 XX
c) 47 XXY
d) 46 XY
e) 69 XXY

5. A 16 years old girl presents with her mother, complaining she has never had menstrual periods. She
states that that all her friends in school have menstruated and she is much worried about it. On
examination she seems to be well nourished, with adult breast development and there are no pubic
hairs which is assigned as tanner stage I. Pelvic examination shows blind vaginal pouch and no uterus is
palpable on rectal examination. Karyotype showed to be 46 XY. What is the pathophysiology of this
disease?
a) Excessive production of Mullerian Inhibiting factor by Sertoli cells
b) Excessive production of Testosterone by Leydig cells
c) Absence of Mullerian inhibiting factor production by sertoli cells
d) Mutation in gene for Androgen Receptors
e) Absence of SRY gene on Y chromosome

6. A 16 years old girl presents with her mother, complaining she has never had menstrual periods. She
states that that all her friends in school have menstruated and she is much worried about it. On
examination she seems to be well nourished, with adult breast development and there are no pubic
hairs which is assigned as tanner stage I. Pelvic examination shows blind vaginal pouch and no uterus is

palpable on rectal examination. Karyotype showed to be 46 XY. What is the cause of presence of breast
in this girl despite of XY karyotype?
a) Estrogen production from testosterone by Sertoli cells
b) Estrogen production from testosterone by Leydig cells
c) Absence of Dihydrotestosterone function
d) Absence of testosterone function
e) Increased production of Inhibin B by sertoli cells

ANSWERS
1. E
2. B. 46 XX
3. a
4. D
5. D
6. a

Breast present
Breast absent

Uterus Present

Uterus Absent

i) Imperforate Hymen
ii) Vaginal septum
A) FSH: (Problem with ovary)
i) Turner
ii) Savage syndrome (46XX)

i) Mullerian Agenesis
ii) Androgen insensitivity (TFS)
iii) 5-a reductase deficiency

iii) Male gonadal agenesis

(46 XY)
iv) Defects in testosterone
production
(17-a hydroxylase and 17,20
desmolase(46 XY)
B) FSH: (Problem with
Pituitary or Hypothalamus)
Do GnRh stimulation test to
find whether pituitary or
hypothalamus problem (
1) Pituitary:
2) Hypothalamus:
i) Kallman syndrome
ii) Stress, anxiety, anorexia
nervosa, excessive exercise