Reproductive - Female Hypogonadism Flashcards
What is the most common presentation of female gonadal disease?
Oligo or amenorrhoea
What is meant by the term primary amenorrhoea?
The failure to start menstruating
When is investigation required for primary amenorrhoea?
In those aged 16+, or those aged 14+ where there is also absence of secondary sexual characteristics
What is meant by the term secondary amenorrhoea?
The absence of periods for > 6 months in someone who has previously menstruated
What is meant by the term oligomenorrhoea?
The presence of infrequent periods
What is the most common cause of oligomenorrhoea throughout the reproductive years?
PCOS
What is the most important investigation to perform in anyone presenting with amenorrhoea?
Pregnancy test
What happens to the level of serum gonadotrophins in hypothalamic or pituitary causes of hypogonadism?
Low
What happens to the level of serum gonadotrophins in ovarian causes of hypogonadism?
High
Abnormalities of which other hormones controlled by the anterior pituitary gland have the ability to cause hypogonadism?
Thyroid hormones (hypo or hyper) and prolactin (raised)
What is the term for amenorrhoea with low oestrogen and gonadotrophins in the absence of organic pituitary disease?
Hypothalamic amenorrhoea
What are some causes of hypothalamic amenorrhoea?
Stress, excessive exercise, weight loss
Give two examples of pituitary disease which may result in hypogonadotrophic hypogonadism in females?
Prolactinoma, Sheehan’s syndrome
What is the term for absent or delayed sexual development associated with inappropriately low levels of gonadotrophins and sex hormones, in the absence of any anatomical or functional defects of the HPO axis?
Idiopathic hypogonadotrophic hypogonadism
Genetic mutations causing IHH often involve the ligand for what protein?
Kisspeptin
What is the major defect in IHH?
The inability to activate GnRH secretion at puberty
In Kallmann’s syndrome, there is a deficiency of what? What is the most commonly associated feature alongside hypogonadism?
GnRH / anosmia
Other than anosmia, what are some other clinical features that may occur in individuals with Kallmann’s syndrome?
Colour blindness and cleft palate
How may Kallmann’s syndrome be inherited?
X linked or autosomal recessive
What can be done to induce menstruation in individuals with mild hypothalamic-pituitary axis malformation (e.g. stress, moderate weight loss) causing hypogonadism?
Progesterone challenge
What treatment can be used to restore fertility or menstruation in women with mild cases of hypothalamic-pituitary axis malformation causing hypogonadism?
Clomifene citrate
What treatment can be used to restore fertility or menstruation in women with severe cases of hypothalamic-pituitary axis malformation causing hypogonadism?
GnRH injections
What are the 3 most common causes of ovarian failure causing hypogonadism?
Ovarian dysgenesis, Turner’s syndrome, premature ovarian failure
How and when do those with Turner’s syndrome typically present?
In the later teenage years with an absence of secondary sexual characteristics and primary amenorrhoea
What are some phenotypic features of Turner’s syndrome?
Short stature, webbed neck, wide spaced nipples
Besides ovarian failure, what are some other potential complications that may occur with Turner’s syndrome?
Spina bifida, deafness and coarctation of the aorta
What are some iatrogenic causes of premature ovarian failure?
Bilateral oophorectomy, radiotherapy to the pelvis, some chemotherapy regimens
Premature ovarian failure involves amenorrhoea, oestrogen deficiency and elevated gonadotrophins occurring in women of what age?
< 40 years
How is premature ovarian failure diagnosed?
FSH > 30 on two separate occasions, more than one month apart, in association with low oestrogen levels
What treatment is necessary for those with premature ovarian failure?
Hormone replacement therapy
What two things characterise PCOS?
Menstrual abnormalities and clinical features of hyperandrogenism
What are some features of hyperandrogenism that may be seen in PCOS?
Hirsutism, acne
What are the two most common ways that PCOS presents?
Menstrual abnormalities or subfertility
What skin condition may be seen in individuals with PCOS, a reflection of hyperinsulinaemia?
Acanthosis nigricans
According to the Rotterdam criteria, 2 out of what 3 criteria must be present for a diagnosis of PCOS to be made?
Oligo/amenorrhoea, clinical or biochemical evidence of androgen excess, polycystic ovaries on US
What defines a polycystic ovary on ultrasound imaging?
12 or more follicles in one ovary, or an ovarian volume of > 10cm3
An LH: FSH ratio of what within the first 5 days of menstruation is consistent with a diagnosis of PCOS?
3: 1
What is the first line treatment for PCOS?
Weight loss
What medical management is used to induce ovulation in women with PCOS who are seeking fertility?
Clomifene citrate
What medical management can be used in women with PCOS to provide regular withdrawal bleeds, improve symptoms of hyperandrogenism and reduce the risk of unopposed oestrogen?
COCP
What is the name of the anti-androgen pill that can be effective in patients with PCOS who have excessive hirsutism or acne?
Cyproterone acetate
What medication can be used in PCOS to improve glucose tolerance, decrease androgen levels and improve ovulation rates?
Metformin
What surgical management can be used to improve ovulation rates in women with PCOS who fail to conceive with clomifene citrate?
Ovarian drilling
Women with PCOS are at increased risk of what malignancy if they have persistent oligomenorrhoea or amenorrhoea and high levels of circulating oestrogen?
Endometrial cancer
What is meant by the term hirsutism?
Male pattern hair growth in women
What is the most common cause of hirsutism?
PCOS
A testosterone level of 6nmol/L or more in a woman with hirsutism should raise suspicion of what?
Androgen secreting ovarian or adrenal tumour
In women with virilisation, what conditions should be screened for?
Androgen secreting ovarian or adrenal tumour
