amenorrhoea

Question 1

what - primary amenorrheoa?

Answer 1

failure to establish menstruation by 15 years of age in girls with normal secondary sexual characteristics (such as breast development)

Or

By 13 years of age in girls with no secondary sexual characteristics

Question 2

what age do girls tend to experience puberty and in what order do they develop their secondary sexual characteristics?

Answer 2

8-14 years
-lasts 4 years

-first develop breast buds, then pubic hair and lastly a menstrual period

Question 3

what age do boys tend to experience puberty?

Answer 3

9-15 years
-tends to last 4 years

Question 4

what is hypogonadotrophic hypogonadism?

Answer 4

Deficiency in LH and FSH leading to a deficiency in sex hormones (oestrogen/ testosterone)

Question 5

LH/FSH and sex hormone levels in hypogonadotrophic hypogonadism?

Answer 5

LH/FSH= low
Sex hormones (testosterone/ oestrogen)= low

Question 6

causes of hypogonadotrophic hypogonadism?

Answer 6

Abnormal functioning of the hypothalamus or pituitary gland:
-Hypopituitarism
-Damage to hypothalamus or pituitary (surgery or radiotherapy)
-Excessive exercise or dieting
-Constitutional delay in growth and development (temporary delay in growth and puberty without underlying physical pathology)
-Kallmans

Question 7

what is the pathophysiology behind hypergonadotrophic hypogonadism?

Answer 7

When the gonads fail to respond to stimulations from the gonadotrophins (LH and FSH)

Without negatvie feedback from the sex hormones (ostrogen), the anterior pituitary continues to produce LH and FSH

This leads to high levels of LH and FSH and low sex hormones

Question 8

LH/FSH and sex hormone levels in hypergonadotrophic hypogonadism?

Answer 8

LH/FSH= high
Sex hormones (testosterone/ oestrogen)= low

Question 9

causes of hypergonadotrophic hypogonadism?

Answer 9

Abnormally functioning gonads:
-Previous damage to gonads (e.g. torsion, cancer, infections such as mumps)
-Congenital absence of ovaries
-Turner’s syndrome (XO)

Question 10

is Kallmans a type of hypergonadotrophic hypogonadism or hypogonadotrophic hypogonadism?

Answer 10

Kallmans is a type of hypogonadotrophic hypogonadism

Question 11

features of Kallmans?

Answer 11

Loss of sense of smell
Tall
Failure to start puberty:
-undescended testes
-small penis

Question 12

what is congenital adrenal hyperplasia?

Answer 12

Group of autosomal recessive genetic disorders causing a congenital deficiency in 21-hydroxylase enzyme causing the underproduction of aldosterone/ cortisol and the overproduction of androgens (testosterone)

Question 13

is congenital adrenal hyperplasia autosomal dominant or recessive?

Answer 13

autosomal recessive

Question 14

congenital adrenal hyperplasia leads to a deficiency in what enzyme?

Answer 14

21-hydroxylase enzyme (more common)

beta-hydroxylase

Question 15

how does congenital adrenal hyperplasia present?

Answer 15

Neonate unwell shortly after birth with electrolyte disturbances and hypoglycaemia

In mild cases females present later in childhood or at puberty:
-Tall for their age
- Facial hair
-Big clit (due to high testosterone)
- Absent periods (primary amenorrhoea)
- Deep voice
- Early puberty

Question 16

what is Androgen insensitivity syndrome?

Answer 16

Androgen insensitivity syndrome is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype

Question 17

what causes androgen insensitivity syndrome?

Answer 17

X linked recessive condition

Question 18

Pathophysiology ofandrogen insensitivity syndrome?

Answer 18

Cells unable to respond to androgen hormones due to lack of androgen receptors

Patients are genetically male (XY) but have female phenotype due to absent response to testosterone converting into oestrogen

Question 19

Presentation of androgen insensitivity syndrome?

Answer 19

• Primary amenorrhoea
• Little or no axillary and pubic hair
• Slightly taller
• Groin swellings (due to undescended testes)
• Breast development may occur (due to conversion of testosterone to oestradiol)
• Elevated testosterone

Inguinal hernia (90%)

Externally- appear female
Internally- have undropped testes, absence of uterus, upper vagina, fallopian tubes and ovaries

Question 20

what is Turners syndrome?

Answer 20

When one of the X chromosomes on 45 is missing or partially missing causing hypergonadotrophic hypogonadism

Question 21

chromosomes of someone with Turner syndrome?

Answer 21

45XO

Question 22

presentation of Turner syndrome?

Answer 22

Wide or weblike neck
Low set ears
High, narrow palate
Smaller than average height
Wideset nipples
Amenorrhoea
Hypergonadotrophic hypogonadism (raised FSH/LH and decreased oestrogen/testosterone)

Question 23

what is secondary amenorrhoea?

Answer 23

no period 3-6 months in previously regular period

No period 6-12 months in previous oligomenorrhoea

Question 24

what does secondary amenorrhoea increase your risk of?

Answer 24

osteoperosis