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