amenorrhoea Flashcards
what - primary amenorrheoa?
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
what age do girls tend to experience puberty and in what order do they develop their secondary sexual characteristics?
8-14 years
-lasts 4 years
-first develop breast buds, then pubic hair and lastly a menstrual period
what age do boys tend to experience puberty?
9-15 years
-tends to last 4 years
what is hypogonadotrophic hypogonadism?
Deficiency in LH and FSH leading to a deficiency in sex hormones (oestrogen/ testosterone)
LH/FSH and sex hormone levels in hypogonadotrophic hypogonadism?
LH/FSH= low
Sex hormones (testosterone/ oestrogen)= low
causes of hypogonadotrophic hypogonadism?
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
what is the pathophysiology behind hypergonadotrophic hypogonadism?
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
LH/FSH and sex hormone levels in hypergonadotrophic hypogonadism?
LH/FSH= high
Sex hormones (testosterone/ oestrogen)= low
causes of hypergonadotrophic hypogonadism?
Abnormally functioning gonads:
-Previous damage to gonads (e.g. torsion, cancer, infections such as mumps)
-Congenital absence of ovaries
-Turner’s syndrome (XO)
is Kallmans a type of hypergonadotrophic hypogonadism or hypogonadotrophic hypogonadism?
Kallmans is a type of hypogonadotrophic hypogonadism
features of Kallmans?
Loss of sense of smell
Tall
Failure to start puberty:
-undescended testes
-small penis
what is congenital adrenal hyperplasia?
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)
is congenital adrenal hyperplasia autosomal dominant or recessive?
autosomal recessive
congenital adrenal hyperplasia leads to a deficiency in what enzyme?
21-hydroxylase enzyme (more common)
beta-hydroxylase
how does congenital adrenal hyperplasia present?
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
what is Androgen insensitivity syndrome?
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
what causes androgen insensitivity syndrome?
X linked recessive condition
Pathophysiology ofandrogen insensitivity syndrome?
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
Presentation of androgen insensitivity syndrome?
- 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
what is Turners syndrome?
When one of the X chromosomes on 45 is missing or partially missing causing hypergonadotrophic hypogonadism
chromosomes of someone with Turner syndrome?
45XO
presentation of Turner syndrome?
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)
what is secondary amenorrhoea?
no period 3-6 months in previously regular period
No period 6-12 months in previous oligomenorrhoea
what does secondary amenorrhoea increase your risk of?
osteoperosis
