Menstrual cycle

Question 1

What is Turner’s Syndrome?

Answer 1

45X0 - sex chromosome deletion

Question 2

What is Klinefelter’s Syndrome?

Answer 2

45XXY - Increased number of X chromosomes.
Tall, feminine
Infantile testes

Question 3

Give examples of intersex conditions

Answer 3

46 XY (male karyotype)
Female external genitalia
Scant pubic hair

46 XX (female karyotype)
male/ambiguous external genitalia
Autosomal recessive
95% are due to 21-hydroxylase enzyme deficiency

Question 4

What is androgen insensitivity syndrome?

Answer 4

Male pseudo-hermaphrodite condition
46 XY

Many variants:
CAIS - normal female external genitalia
MAIS - normal male external genitalia
PAIS - partially masculinised external genitalia

Due to unresponsiveness to testosterone (DHT)

X-linked recessive

Question 5

What is Congenital Adrenal Hyperplasia (CAH)?

Answer 5

Female pseudo-hermaphrodite condition

Commonest cause is 21-hydroxylase deficiency in adrenal gland pathway

Females have ambiguous genitalia
Affected males do not - big phallus but short stature

Autosomal recessive

Question 6

What are the 2 mal-developments of female internal genitalia?

Answer 6

Disorder of lateral fusion

Disorder of vertical fusion

Question 7

What happens with regards to hormones during puberty?

Answer 7

Increased amplitude of GnRH and GHRH
Increased levels of FSH, LH and sex steroids
Increased levels of GH

Question 8

What is the function of FSH?

Answer 8

1. Stimulates follicular growth

2. Stimulates oestrogen secretion

Question 9

What is the function of oestrogen?

Answer 9

1. Develops endometrium
2. Stimulates LH secretion
   Inhibits LH and FSH secretion
3. Stimulates LH secretion when critical level reached

Question 10

What is the function of LH

Answer 10

1. Surge causes ovulation

2. Development of corpus luteum

Question 11

What is the function of Progesterone?

Answer 11

1. Thickening of endometrium

2. Inhibits LH and FSH secretion

Question 12

What are some causes of precocious puberty?

Answer 12

1. Intracranial lesions, infections

2. Hypothyroidism

Question 13

What is the treatment for precocious puberty?

Answer 13

1. Inhibit puberty with GnRH analogues

2. Adrenogen receptor blockage

Question 14

What are the causes of delayed puberty?

Answer 14

1. Constitutional delay
2. Malabsorption
3. Turner’s syndrome
4. Gonadotropin deficiency (hypothalamic/pituitary lesions)

Question 15

What is the treatment for delayed puberty?

Answer 15

Sex hormone treatment