Reproductive Dysfunction (Physiology)

Question 1

Why are clinical evaluations done in a case of infertility? (4)

Answer 1

To determine:
-the abnormality of testosterone production.
-testosterone action
-the etiology of the abnormality.
- whether hormone therapy can correct the infertility.

Question 2

What are the diagnostic categories of infertility? (4)

Answer 2

-hypogonadotrophic hypogonadism
-testicular failure
-androgen resistance
- 5-alpha reductase deficiency

Question 3

Which disorders can cause testosterone deficiency? (3)

Answer 3

Klinefelter syndrome
Kallmann’s syndrome
Androgen deficiency

Question 4

What is androgen insensitivity syndrome?

Answer 4

It is when a person who is genetically male has resistance to androgens, meaning they will have low levels of testosterone and physically have the traits of a female.

Question 5

What characterises Mild Androgen Insensitivity Syndrome (MAIS)

Answer 5

-Impaired spermatogenesis.
-Gynecomastia in puberty.

Question 6

What characterises partial androgen insensitivity syndrome in males? (3)

Answer 6

-Simple or severe hypospadias with a normal-sized penis and descended testes.
-Severe hypospadias with a micropenis, bifid scrotum and either descended or undescended testes.
-Gynecomastia during puberty.

Question 7

What are the characteristics of Reifenstein syndrome / ambiguous PAIS? (4)

Answer 7

-Micropenis, and clitoris-like underdeveloped glans, with a labia majora-like bifid scrotum.
-Descended or undescended testes.
-Perineoscrotal hypospadias or urogenital sinus.
-Gynecomastia during puberty.

Question 8

What are the characteristics of the PAIS in females (incomplete AIS)? (3)
NOTE: They are the same for CAIS.

Answer 8

-Labial or inguinal testes.
-Clitoromegaly or labial fusion.
-Distinct urethral and vaginal opening or urogenital sinus.

Question 9

Features of a CAIS?

Answer 9

-Clitoromegaly or labial fusion.
- Labial or inguinal testes.
- Distinct urethral or vaginal opening or urogenital sinus.

Question 10

Which hormone is responsible for the activation of testosterone?

Answer 10

5-alpha reductase

Question 11

What characterises the 5-alpha reductase deficiency?

Answer 11

Female phenotype until puberty due to deficiency of active testosterone (dehydrotestosterone).

Question 12

What do we call the absence of menstrual bleeding?

Answer 12

Amenorrhoea

Question 13

Name and explain the two types of amenorrhoea. (8)

Answer 13

Primary amenorrhoea
-Absence of menstrual bleeding.
-no secondary sexual characteristics.
-by the age of 14 years.
OR
-Absence of menstrual bleeding.
-Normal secondary sexual characteristics.
-by the age of 16 years.

Secondary amenorrhoea
-menstrual bleeding for 3 or more months and then stops.
- No pregnancy, lactation, menopause or any other causes of no menstruation.

Question 14

What are the hypothalamic causes of amenorrhoea? (6)

Answer 14

-Brain tumour
-Teratoma
-Low body weight
-Sarcoidosis
-Kallmann syndrome
-Nutritional deficiency

Question 15

What are the pituitary causes of amenorrhoea? (6)

Answer 15

• Pituitary radiation
  -Prolactinaemia
• Other pituitary tumours
• Postpartum pituitary necrosis
• Sarcoidosis
• Autoimmune hypophysitis

Question 16

What are the ovarian and uterine causes of amenorrhoea? (6)

Answer 16

• Turner syndrome
• Anovulation
• Hyperandrogenemia
• Galactosemia
• Aplasia of vagina, cervix or uterus.
• Radiation or chemotherapy.

Question 17

What are the functional causes of amenorrhoea? (6)

Answer 17

-Drug abuse
-Anorexia/bulimia
-Excessive exercise
-Excessive weight gain or loss.
-Chronic diseases
-Malnutrition