Disorders of Reproductive Endocrinology Flashcards Preview

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Flashcards in Disorders of Reproductive Endocrinology Deck (30)
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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?


  • Pregnancy
  • Postmenopausal

Primary amenhorrhoea

  • Congenital (Turner's, Kallman's)

Secondary amenorrhoea

  • 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?

  1. LH, FSH and oestradiol
  2. Thyroid function, PRL


What is the difference between primary and secondary hypogonadism?

  1. Primary hypogonadism - low oestrogen due to ovary problem
  2. Secondary hypogonadism - low oestrogen due to hypothalmic or pituitary problem


Low oestradiol and low or inappropriately normal LH/FSH is indicative of what?

Secondary hypogonadism

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?

GnRH release


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?

  1. Salt wasting
  2. Virilisation


How does non-classic CAH present?

  1. Hirsutism
  2. Mental disturbance
  3. 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?

  1. Short stature
  2. Fold of skin on neck
  3. Constriction of aorta
  4. Underdeveloped breasts
  5. Shield-shaped thorax
  6. Wide spaced nipples
  7. Elbow deformity (Cubitus valgus)
  8. Amenorrhoea
  9. Shortened metacarpal IV
  10. Naevi (brown spots) on skin



How does Turner's syndrome present in adults?

  1. Primary or secondary amenorrhoea
  2. Infertility


How does Turner's syndrome affect the GI system?

  1. Bleeding due to vascular malformation
  2. Increased risk of Crohn's/UC


How does Turner's syndrome affect the CVS?

  1. Coarctation of the aorta
  2. Bicuspid aortic valve
  3. Hypoplastic left heart (left heart is severely underdeveloped)


What is the most common form of congenital primary hypogonadism in males?

Klinefelter's syndrome


What are the clinical features of Klinefelter's syndrome?

  1. Reduced testicular volume
  2. Gynaecomastia
  3. Eunuchoidism
  4. Intellectual dysfunction
  5. Azoospermia


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?

47 XXY


Secondary hypogonadism can be caused by which things?

  1. Hypothalmic or pituitary dysfunction


  1. IHH
  2. Kallman's syndrome
  3. CAH


  1. Exercise, weight changes, stress, systemic illness
  2. Infiltrative disorders (sarcoid, haemochromatosis)
  3. Cranial irradiation or trauma
  4. Drugs (anabolic steroids/opiates)
  5. Hyperprolactinaemia
  6. Hypothalmic or pituitary tumours/surgery
  7. 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?

  1. Physiological
  2. Drugs (oestrogens, testosterone, spironolactone, digoxin)
  3. Hypogonadism
  4. Tumours (Oestrogen/androgen or adrenal origin, hCG secreting such as germinoma)
  5. Endocrine disorders (thyrotoxicosis, Cushings)
  6. Systemic illness
  7. Hereditary disorders