Gynaecology: 1ary & 2ary Amenorrhoea, PMS & Heavy Menstrual Bleeding Flashcards
At what age is 1ary amenorrhoea defined?
Defined as not starting menstruation:
1) By 13 years when there is NO other evidence of pubertal development
2) By 15 years of age where there are other signs of puberty, such as breast bud development
At what age is 1ary amenorrhoea defined when there is NO other evidence of pubertal development?
13 y/o
At what age is 1ary amenorrhoea defined where there are other signs of puberty, such as breast bud development?
15 y/o
What age does puberty start in girls?
8-14
Girls have their pubertal growth spurt earlier in puberty than boys.
What age does puberty start in boys?
9-15
How long does puberty take from start to finish?
Approx 4 years
What does puberty start with the development of in girls?
In girls, puberty starts with the development of breast buds, then pubic hair, and finally menstrual periods about two years from the start of puberty.
How many years from start of puberty do menstrual periods typically begin?
Approx 2 years
Define hypogonadism
Hypogonadism refers to a lack of the sex hormones, oestrogen and testosterone
What happens to the sex hormones before puberty?
Typically rise
How can a lack of sex hormones affect puberty?
Can cause delay
A lack of sex hormones at puberty is fundamentally due to one of what two reasons?
1) Hypogonadotropic hypogonadism –> a deficiency of LH and FSH
2) Hypergonadotropic hypogonadism –> a lack of response to LH and FSH by the gonads (the testes and ovaries)
Define hypogonadotropic hypogonadism
A form of hypogonadism that is due to a problem with the pituitary gland or hypothalamus.
This results in a deficiency of FSH or LH.
I.e. there is a problem with the PITUITARY
Define hypergonadotropic hypogonadism
Results if the gonad itself does not produce the amount of sex steroid sufficient to suppress secretion of LH and FSH at normal levels.
I.e. lack of response to LH and FSH by gonads
There is a problem with the GONADS
What is deficient in hypogonadotropic hypogonadism?
LH and FSH –> this leads to deficiency of sex hormones (oestrogen and testosterone)
What are FSH and LH?
Gonadotrophins
What are FSH and LH produced by?
Anterior pituitary
What are FSH and LH produced in response to?
GnRH (gonadotropin releasing hormone) from the hypothalamus
Result of hypogonadotropism?
Since no gonadotrophins are simulating the ovaries, they do not respond by producing sex hormones (oestrogen).
Therefore, “hypogonadotropism” causes “hypogonadism”.
A deficiency of LH and FSH is the result of abnormal functioning of the hypothalamus or pituitary gland.
Give some causes:
- Hypopituitarism (under production of pituitary hormones)
- Damage to the hypothalamus or pituitary, for example, by radiotherapy or surgery for cancer
- Significant chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
- Excessive exercise or dieting can delay the onset of menstruation in girls
- Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
- Endocrine disorders such as growth hormone deficiency, hypothyroidism, Cushing’s or hyperprolactinaemia
- Kallman syndrome
What is Kallman syndrome?
Kallmann syndrome combines an impaired sense of smell with a hormonal disorder that delays or prevents puberty.
Describe gonadotrophin levels in hypergonadotropic hypogonadism
FSH and LH are high:
1) gonads fail to respond to stimulation from the gonadotrophins (LH and FSH)
2) without negative feedback from the sex hormones (oestrogen), the anterior pituitary produces increasing amounts of LH and FSH
Consequently, you get high gonadotrophins (“hypergonadotropic”) and low sex hormones (“hypogonadism”).
Hypergonadotropic hypogonadism is the result of abnormal functioning of the gonads.
What are some causes of this?
- Previous damage to the gonads (e.g. torsion, cancer or infections such as mumps)
- Congenital absence of the ovaries
- Turner’s syndrome (XO)
Which condition is associated with hypogonadotrophic hypogonadism and anosmia?
Kallman syndrome
What is congenital adrenal hyperplasia?
A congenital deficiency of the 21-hydroxylase enzyme results in underproduction of cortisol and aldosterone, and overproduction of androgens from birth.
Inheritance of congenital adrenal hyperplasia?
Autosomal recessive
What enzyme is deficient in congenital adrenal hyperplasia?
21-hydroxylase enzyme.
Which hormones are UNDERPRODUCED in congenital adrenal hyperplasia?
Cortisol and aldosterone
Which hormones are OVERPRODUCED in congenital adrenal hyperplasia?
Androgens
In severe cases of congenital adrenal hyperplasia, how will the neonate present?
Neonate is unwell shortly after birth, with electrolyte disturbances and hypoglycaemia.
In milder cases, when will congenital adrenal hyperplasia present?
What symptoms?
Female patients can present later in childhood or at puberty with typical features:
- Tall for age
- Facial hair
- Absent periods (1ary amenorrhoea)
- Deep voice
- Early puberty
What is androgen insensitivity syndrome?
A condition where the tissues are unable to respond to androgen hormones (e.g. testosterone), so typical male sexual characteristics do not develop.
How does androgen insensitivity syndrome present?
It results in a female phenotype, other than the internal pelvic organs. Patients have normal female external genitalia and breast tissue. Internally there are testes in the abdomen or inguinal canal, and an absent uterus, upper vagina, fallopian tubes and ovaries.
Some structural pathologies may allow for menses but prevent it from escaping through the vagina.
How many this present?
There may be cyclical abdominal pain as menses build up but are unable to escape through the vagina
Structural pathology in the pelvic organs can prevent menstruation.
If the ovaries are unaffected by this pathology, what will happy?
No menstrual periods BUT typicaly 2ary sexual characteristics
Name some structural pathology that can cause 1ary amenorrhoea:
- Imperforate hymen
- Transverse vaginal septae
- Vaginal agenesis
- Absent uterus
- Female genital mutilation
What detailed history & examination should be done in cases of 1ary amenorrhoea?
History:
- General health
- Development
- FH
- Diet & lifestyle
Exam:
- Height
- Weight
- Stage of pubertal development
- Features of any underlying conditions
What is the threshold for initiating investigation for 1ary amenorrhoea?
No evidence of pubertal changes in a girl aged 13.
Investigation can also be considered when there is some evidence of puberty but no progression after two years.
Initial investigations in 1ary amenorrhoea?
1) Full blood count and ferritin –> anaemia
2) U&Es –> chronic kidney disease
3) Anti-TTG or anti-EMA antibodies –> coeliac disease
4) Hormonal blood tests –> hormonal abnormalities
What hormonal blood tests can be done in 1ary amenorrhoea?
- FSH and LH
- TFTs
- Insulin-like growth factor I
- Prolactin
- Testosterone
Describe FSH and LH levels in hypogonadotropic hypogonadism
Low
Describe FSH and LH levels in hypergonadotropic hypogonadism
High
What is Insulin-like growth factor I used as a screening test for?
Growth hormone (GH) levels –> this can affect menstruation
How can prolactin affect menstruation?
Hyperprolactinaemia can cause amenorrhoea
How may testosterone be implicated in 1ary amenorrhoea?
Testosterone is raised in polycystic ovarian syndrome, androgen insensitivity syndrome and congenital adrenal hyperplasia
What genetic condition can result in 1ary amenorrhoea?
Turner’s syndrome (XO)
What imaging may be useful in 1ary amenorrhoea?
1) Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay
2) Pelvic ultrasound to assess the ovaries and other pelvic organs
3) MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome
Imaging in possible Kallman syndrome?
MRI - assess the olfactory bulbs
Management of 1ary amenorrhoea?
Management of primary amenorrhoea involves establishing and treating the underlying cause.
Where necessary, replacement hormones can induce menstruation and improve symptoms.
Patients with constitutional delay in growth and development may only require reassurance and observation.