Endocrine Disorders Affecting Reproduction Flashcards

1
Q

What is the clinical application of GnRH secretion?

A

normally GnRH production is pulsatile
If continue GnRH is give, this downregulates FSH/LH
- can be used to time IVF cycles etc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the 3 categories of things that can go wrong with the HPGaxis?

A
  1. central pathology
    - lack for section of LH/FSH
    - hypothalamic/pituitary disease
  2. Gonadal damage
    - failure of germ cell production
    - lack of sex steroid production
  3. polycystic ovarian syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the typical presentation of a female

A
Menstrual history
- oligomennorhea
- amennorhea - primary vs secondary 
Oestrogen deficiency - hot flushes, poor libido, dyspareunia 
Hirsutism, acne, androgenic alopecia 
Weight
Galactorrhoea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the causes of amenorrhoea?

A
  • pregnancy
    Central causes
  • hypothalamic: anorexia, exercise, stress
  • pituitary: hyperprolactinaemia, pit tumours
  • hypogonadotrophic hypogondasim (failure of LH, FSH secretion)
    Ovarian causes:
  • Turner’s
  • Premature ovarian failure
    Polycystic Ovarian Syndrome
    Miscellaneous - thyrotoxicosis, chronic disease, local uterine problems
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How can leptin affect the female reproductive system?

A

Congenital leptin deficiency
- Severe obesity and hyperphagia
Hypogonadotrophic hypogonadism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How is prolactin secretion regulated?

A
  • synthesised by lactotrophs
  • regulated of PRL different to the a. pituitary hormones
  • negative regulation by tonic release of dopamine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the causes of physiological hyperprolactinaemia?

A

physical or psychological
post seizure
greater increase in women
PRL does have circadian rhythm with peak during sleep
- don’t examine breasts and then measure prolactin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the clinical features of hyperprolactinaemia?

A
  • less apparent in post-menopausal women and men
  • hypogonadism - oligo/amenorrhoea
  • symptoms of low oestrogen
  • ## galactorrhea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the pathological causes of hyperprolactinaemia?

A
  • prolactinomas
  • loss of inhibits effect of hypothalamus derived dopamine
  • Drugs - dopamine antagonist e.g. phenothiazines, metoclopramide, TCAs, verapamil
  • hypothyroidism link
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the signs, symptoms and causes of primary ovarian insuffiency?

A

Amerrohea, oestrogen deficiency
Elevated LH, FSH
Causes:
- congenital e.g. turners
- autoimmune
- iatrogenic - chemo/radiotherapy, surgery
- mutations in FSH receptor galactossaemia, FMR1 gene permutation (fragile X)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the phenotype of a girl with Turner’s syndrome?

A
short stature
streak ovaries
webbed neck 
cubitis valgus
congenital heart disease
hypothyroidism 
lumphoedema
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Describe autoimmune primary ovarian insufficiency

A
  • often caused by autoimmune disease such as Graves, Addissons, diabetes
  • POI often precedes addisions by 8-14 years
  • mechanism is likely to be due to inflammatory infiltration of follicles and production of anti ovarian Ab, apoptosis and atrophy
  • sharing of auto antigens between the ovary and adrenals amy explains the addissons link
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the link between Fragile X permutation and POI?

A
  • 1 in 200 females has the genetic change that leads to FXPOI.
  • FXPOI accounts for about 4-6% of all cases of POI in women
  • Mutuations in the FMR1 gene increase a woman’s risk of developing FXPOI
  • FXPOI is inherited in an X-linked dominant pattern therefore one copy leads to the condition
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How is Primary Ovarian Insufficiency diagnosed and managed?

A
  • diagnosis on sera FSH and E2 levels (oestrogen)
  • karyotyping and FMR-1 permutation analysis
  • screening for autoimmune diseases
  • AMH measurement is a good measure of ovarian reserve
  • DEXA scan: risk of osteoporosis
  • manage with oestrogen replacement - need progesterone added if still has uterus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the signs and symptoms of polycystic ovary syndrome
Aeitiology?

A
  • oligoamenorrhoea
  • hirsutism
  • obesity
  • infertility - anovulation
  • polycystic ovaries on ultrasound
  • hyperandrogegism: increased T, androstenedione (DHEA)
  • increased LH/FSH ratio
    Aeitiogloy = insulin resistance?
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the Rotterdam Diagnostic Criteria for PCOS?

A

2/3 of the following:

  • oligo/amenorrhea
  • clinical or biochemical signs of hyperandrogenaemia
  • polycystic ovaries
17
Q

What is acanthosis nigricans?

A
  • Often seen in PCOS
  • dark skin markings, usually on neck
  • marker of insulin resistance
18
Q

What is hirsutism?

A

Male hormone dependent hair growth

- upper lip, chin, anterior neck, sideburn, breasts, pubic hair

19
Q

What is a common score of hirsutism?

A

Ferriman Gallwey Score of Hirsutism

20
Q

What are the risk of PCOS and pregnancy?

A
  • oligo/amennorhea and infertile commonest clinical problem
  • risk of gestational diabetes and pregnancy-related hypertension is ten times increased
  • IVF: risk of hyperstimulation syndrome and subsequently fertilisation of more than one egg
21
Q

PCOS - What do you need to treat and how?

A

Obesity, oligo/amennorhea
- metform, lifestyle modification, progesterone replacement, bariatric surgery
Anovulatory infertility
- metformin –> +climophene/IVF
Hirsutism
- yasmin, Vaniqua cream, cosmetic removal, spironolactone

22
Q

What are the characteristics of classical and nonclassical 21-hydroxylase deficiency?

A

Classical form - neonatal infancy pregnancy
- simple virilising, salt wasting
Non-classical form - childhood/adult presentation
- premature baby, hirsutism, PCOS

23
Q

What is the cause of androgen insensitivity syndrome?

What are the features of complete AIS?

A
  • female external genetalia
  • short, blind ending vagina
  • no uterus, abdominal/inguinal testes
  • absent prostate, axillary/pubic hair
  • gynaecomastia - impressive breast development
24
Q

How might someone with AIS present?

A
inguinal hernia (undescended testis!)
primary amenorrhoea 
Elevated LH, Testosterone and E2
Oestrogen from aromatisation of Testosterone and LH driven gonad secretion 
T secretion 50% increased vs normal
25
Q

What is 5alpha reductase deficiency?

A
Females but 46XY
Unable to convert T to DHT
Lack of virilisation 
Appear female
Abdominal testes
Primary amenorrhoea 
Virilisation at puberty
Gender change in some cultures
26
Q

How would a male with hypogonadism present?

A
  • delayed puberty
  • loss of libido, impotence
  • gynaecomastia
  • loss of body hair, reduced shaving frequency, thin skin
  • decreased muscle mass, female fat distribution
  • osteoporosis
  • infertility +/- reduced testicular volume
27
Q

What are used to measure testicular volume?

What is normal adult male?

A

Orchidometer

15-25ml

28
Q

What are the causes of Primary hypogondism in males?

A
  • trauma
  • chemo
  • undescended testes
  • infections
  • chromosomal abnormalities
  • systemic diseases
29
Q

What are the causes of secondary hypogonadism?

A
  • pituitary tumours
  • hyperPRL
  • hypothalamic
  • systemic disease
  • obesity
  • androgen use and abuse
30
Q

How is hypogonadism investigated?

A
  • clinical exam
  • LH, FSH, testosterone
    Further investigations to establish cause accordingly
  • liver function, prolactin, karyotype, imaging
31
Q

What is Klineflelter’s syndrome?

A
47 XXY
Primary hypogonadism - pea sized testes
Feminisation - azoospermia, gynaecomastia
Reduced secondary sexual hair
Osteoporosis 
Eunuchs - tall stature
Reduced IQ in 40% 
20-fold increased risk of breast cancer
32
Q

What are the clinical features of myotonic dystrophy?

A
Autosomal dominant 
Progressive muscular weakens 
Myotonia
Mental retardation
Frontal baldness
Cataracts
Primary gonadal failure
33
Q

What are the clinical features of Kallman’s syndrome?

A
  • Idiopathic hypogonadotrophic hypogonadism
  • Anosmia in 75%
  • Failure of migration of GnRH neurones
  • X-linked autosomal recessive disorder
34
Q

What are the safety issues with testosterone replacement?

A

behaviour

annual PSA, FBC, lipids, BP over 50yrs

35
Q

What are the hazards of androgen abuse?

A
Psychological changes
Prostate cancer
Atrophy of testes
Azoopermia
Polycytheamia
CV death