Define primary amenorrhoea
Failure of menarche by the age of 16 years
Define secondary amenorrhoea
Cessation of periods for >6mths in an individual who has previously menstruated
What are the main causes for amenhorrhoea?
- Congenital (Turner's, Kallman's)
- Ovarian problems (PCOS, premature ovarian failure)
- Uterine problems (uterine adhesions)
- Hypothalmic dysfunction (weight loss, over exercise, stress, infiltrative)
- Pituitary problems (high PRL, hypopituitarism)
If a patient has amenorrhoea, what tests will they definitely undergo?
- LH, FSH and oestradiol
- Thyroid function, PRL
What is the difference between primary and secondary hypogonadism?
- Primary hypogonadism - low oestrogen due to ovary problem
- Secondary hypogonadism - low oestrogen due to hypothalmic or pituitary problem
Low oestradiol and low or inappropriately normal LH/FSH is indicative of what?
Pituitary or hypothalmic problem
When oestradiol is low and LH/FSH are high then there is a __________ ovarian problem
When oestradiol is low and LH/FSH are high then there is a primary ovarian problem
What is idiopathic hypogonadotrophic hypogonadism?
Absent or delayed sexual development due to inability to activate GnRH secretion and associated with low levels of gonadotrophins and sex hormone levels in the absence of anatomical or functional defects
Kisspeptin has what important role in puberty?
What is Kallman's syndrome?
A genetic disorder characterised by loss of GnRH secretion and either hyposmia or anosmia
Kallman's syndrome affects which sex more?
What is congenital adrenal hyperplasia?
A group of inherited disorders characterised by a deficiency in one of the enzymes necessary for cortisol synthesis
90% of CAH is due to a deficiency in which enzyme?
Classic CAH presents in ____________
Non-Classic CAH presents in ____________
Classic CAH presents in infancy
Non-Classic CAH presents in adolescence/adulthood
How does classic CAH present?
- Salt wasting
How does non-classic CAH present?
- Mental disturbance
- Infertility due to anovulation
How can late onset CAH be treated?
Low dose glucocorticoid to suppress ACTH drive
Turner's syndrome affects ________ and causes there to only be ___ ___ ____________
Turner's syndrome affects women and causes there to only be one X chromosome
How does Turner's syndrome present clinically?
- Short stature
- Fold of skin on neck
- Constriction of aorta
- Underdeveloped breasts
- Shield-shaped thorax
- Wide spaced nipples
- Elbow deformity (Cubitus valgus)
- Shortened metacarpal IV
- Naevi (brown spots) on skin
How does Turner's syndrome present in adults?
- Primary or secondary amenorrhoea
How does Turner's syndrome affect the GI system?
- Bleeding due to vascular malformation
- Increased risk of Crohn's/UC
How does Turner's syndrome affect the CVS?
- Coarctation of the aorta
- Bicuspid aortic valve
- Hypoplastic left heart (left heart is severely underdeveloped)
What is the most common form of congenital primary hypogonadism in males?
What are the clinical features of Klinefelter's syndrome?
- Reduced testicular volume
- Intellectual dysfunction
Klinefelter's syndrome is associated with a _____ testosterone, and _____ LH/FSH
Klinefelter's syndrome is associated with a low testosterone, and high LH/FSH
What is the distinguishing part of a karyotype for Klinefelter's syndrome?
Secondary hypogonadism can be caused by which things?
- Hypothalmic or pituitary dysfunction
- Kallman's syndrome
- Exercise, weight changes, stress, systemic illness
- Infiltrative disorders (sarcoid, haemochromatosis)
- Cranial irradiation or trauma
- Drugs (anabolic steroids/opiates)
- Hypothalmic or pituitary tumours/surgery
- Prader-Willi syndrome
What is Prader-Willi syndrome?
A genetic disorder due to failure of expression of specific genes on chromosome 15
In infancy babies will have trouble feeding and have poor muscle tone
In childhood onwards, sufferers have much increased appetite leading to obesity and type 2 diabetes. They also commonly have intellectual defects and low sex hormones
In young men with hypogonadism which treatment is often considered?
Testosterone replacement therapy
(will not restore fertility)
What can cause gynacomastia?