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Year 2 Clinical > Ovulation Disorders and Male Hypogonadism > Flashcards

Ovulation Disorders and Male Hypogonadism Flashcards

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1
Q

Sequence of events in the hypothalamic pituitary gonadal axis?

A

GnRH released from the hypothalamus

This stimulates the anterior pituitary to produce LH and FSH, which have their own effects on target tissues

-ve or +ve feedback can occur, from steroid and peptide hormones (like oestrogen) at the gonads, affecting:
• GnRH release from the hypothalamus
• LH and FSH release from the anterior pituitary

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2
Q

Functions of oestrogenes?

A

Class of steroid hormones that control development and maintenance of female sexual characteristics

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3
Q

Where does glandular oestrogen synthesis occur?

A

Occurs in the granulosa and theca cells of the ovaries, as well as the corpus luteum

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4
Q

What happens when granulosa cells are stimulated by LH?

A

Produce pregnenolone

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5
Q

What happens to pregnenolone?

A
  1. Diffuses out of granulosa cells into adjacent theca cells which express enzymes (17,20-lyase and 17β-HSD)
  2. Enzymes mediate pregnenolone conversion to androstenedione (via DHEA)
  3. Most andosteedione returns to the granulosa cells and is converted to oestrone by aromatase
  4. Aromatase is then converted to oestradiol (by 17β-HSD)
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6
Q

How is expression of aromatase and 17β-HSD controlled?

A

By FSH stimulation

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7
Q

How does extraglandular synthesis of oestrogen occur?

A

Aromatase is expressed in non-gonadal sites and facilitates peripheral aromatisation of androgens to estrone, e.g: fat and bone

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8
Q

How is progesterone synthesised?

A

Synthesised from pregnenolone (by 3β-HSD in the corpus luteum) by the:
• Placenta during pregnancy
• Adrenal glands, as a step in androgen and mineralocorticoid synthesis

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9
Q

Mediation of progesterone actions?

A

Intracellular progesterone receptor, no. of which increase in the presence of oestrogen

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10
Q

Main productions of hormone synthesis at different phases in the menstrual cycle?

A

During follicular maturation - oestradiol

Luteal phase - progesterone (following ovulation)

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11
Q

Time period for ovulation and menstrual cycle?

A

Menstrual cycle begins on day 1 of the period

There are 2 phases following menses:
• Follicular phase - in the weeks leading up to ovulation
• Luteal phase - in the weeks following ovulation (progesterone peaks)

During ovulation, LH, FSH and oestrogen peak in levels

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12
Q

Definition of oligomenorrhea?

A

Reduction in frequency of periods to <9 per year

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13
Q

Definitions of primary and secondary amenorrhea?

A

Primary - failure of menarche by the age of 16 years (likely a congenital/genetic condition)

Secondary - cessation of periods for >6 months in an individual who has previously menstruated (likely an acquired cause)

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14
Q

Physiological causes of amenorrhoea?

A
  1. Pregnancy

2. Post-menopausal (usually >40 years of age)

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15
Q

Causes of primary amenorrhea?

A

Congenital problems, e.g:
• Turner’s syndrome
• Kallman’s syndrome

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16
Q

Causes of secondary amenorrhea?

A

Ovarian problem, e.g:
• PCOS
• Premature ovarian failure (can cause early menopause)

Uterine problem, e.g:
• Uterine adhesions

Hypothalamic dysfunction, due to e.g:
• Stress
• Weight loss 
• Exercise
• Infiltrative causes

Pituitary, e.g:
• High PRL
• Hypopituitarism

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17
Q

Features of to check for in an amenorrhea history?

A

Symptoms of oestrogen deficiency:
• Flushing
• Libido
• Dyspareunia (painful intercourse)

Hypothalamic problem indications, e.g: weight loss, stress, exercise

Features of PCOS/androgen excess:
• Hirsutism
• Acne

Features of Kallman’s:
• Anosmia (loss of sense of smell)

Symptoms of hypopituitarism/pituitary tumour:
• Galactorrhea

Drugs assoc. with hyperprolactinaemia

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18
Q

Features to check for on examination of a patient presenting with amenorrhea?

A

Body habitus (for Turner’s)

Visual fields and anosmia

Breast development

Hirsutism, acne (androgen excess)

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19
Q

Ix that should always be done in a patient with oligo/amenorrhea?

A

LH, FSH and oestradiol

TFTs

Prolactin

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20
Q

Additional Ix for amenorrhea?

A

Ovarian USS +/- endometrial thickness (if it is thin, this indicates decreased oestrogen)

Testosterone (if there is hirsutism)

Pituitary function tests +MRI pituitary (if hypothalamic pituitary problems suspected)

Karyotype (if primary amenorrhea or features of Turner’s syndrome)

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21
Q

How is female hypogonadism detected?

A

Low levels of oestrogen

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22
Q

What is primary hypogonadism?

A

Problem with ovaries; there is a high LH/FSH (hypergonadotrophic hypogonadism)

Example is premature ovarian failure

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23
Q

What is secondary hypogonadism?

A

Problem with hypothalamus or pituitary; there is a low LH/FSH (hypogonadotrophic hypogonadism) and a low oestradiol

E.g: in high PRL, hypopituitarism

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24
Q

How to interpret LH/FSH measurements for a presentation of amenorrhea?

A

If high LH/FSH (esp. FSH):
• Primary ovarian problem

Low/inappropriately normal LH/FSH:
• Primary pituitary problem
• Hypothalamic problem

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25
Presentation of premature ovarian failure (POF)?
Loss of ovarian function occurring <40 years of age with: • Amenorrhea • Oestrogen deficiency • Elevated gonadotrophins
26
Diagnosis of premature ovarian failure?
FSH >30 on 2 separate occasions that are >1 months apart
27
Causes of premature ovarian failure?
Chromosomal abnormalities, e.g: • Turner's syndrome • Fragile X Gene mutations, e.g: • In the FSH/LH receptor Autoimmune disease, e.g: can be assoc. with: • Addison's disease • Thyroid disease • APS1/2 Iatrogenic, with radio/chemotherapy
28
Causes of secondary hypogonadism?
Hypothalamic problem: • Functional hypothalamic disorders • Kallman's syndrome • Idiopathic hypogonadotrophic hypogonadism (IHH) Pituitary problems Miscellaneous: • Prader-Willi • Haemochromatosis
29
Types of functional hypothalamic amenorrhea?
3 main types: • Weight change related • Stress related • Exercise related This can occur, e.g: in athletes, anorexia nervosa
30
Other causes of functional hypothalamic amenorrhea?
Anabolic steroids, recreational drugs Iatrogenic, e.g: surgery/radiotherapy Systemic illness Infiltrative disorders, e.g: sarcoidosis Head trauma
31
How is Idiopathic hypogonadotrophic hypogonadism (IHH) identified?
Absent/delayed sexual development assoc. with inappropriate low levels of gonadotrophin and sex hormone levels There is an absence of anatomical/functional defects of the hypothalamic-pituitary-gonadal axis
32
Major defect in IHH?
Inability to activate pulsative GnRH secretion during puberty
33
Other features of IHH?
May have additional features: | • Anosmia (loss of sense of smell)
34
Pathogenesis of IHH?
Mutations in genes, some of which: • Encode proteins that regulate GnRH neuronal migration • Encode proteins that regulate GnRH secretion or GnRH action Studies suggest there may be a mutation in a receptor for kisspeptin
35
What is KALLMAN'S SYNDROME?
Genetic disorder characterised by a loss of GnRH secretion + anosmia or hyposmia More common in males and may be assoc. with an FH, although there are variable patterns of inheritance; shows genetic heterogeneity
36
Ix results in Kallman's syndrome?
Normal remainder of pituitary function Normal MRI pituitary, other than some absence of olfactory bulbs (related to anosmia, adue to close proximity of olfactory bulb to GnRH neurones in embryogenesis)
37
Main Ix results in PITUITARY DYSFUNCTION?
Low/normal LH/FSH Low oestradiol
38
Causes of pituitary dysfunction?
Loss of LH/FSH stimulation: • Non-functioning pituitary macroadenoma (pressure effects cause hypopituitarism) • Empty sella • Pituitary infarction ``` Hyperprolactinaemia: • Micro/macro prolactinoma • Drugs, e.g: dopamine antagonists, anti-psychotics • Hypothyroidism • Idiopathic ```
39
Ovarian causes of amenorrhea?
PCOS Ovarian failure (high gonadotrophins) Congenital problem with ovarian development, e.g:
40
Examples of congenital problems with ovarian development?
Anatomic: • Uterus absence • Vaginal atresia) Genetic: • Turner syndrome • Testicular feminisation • Non-classical and late onset CAH
41
What is Polycystic Ovarian Syndrome (PCOS)?
Set of symptoms that occur due to high androgens Oestrogen levels are normal
42
Diagnosis of PCOS?
Using Rotterdam criteris: 1. Menstrual irregularity 2. Hyperandrogenism (hirsutism, elevated free testosterone) 3. Polycystic ovaries
43
Other risk with PCOS?
Increased risk of diabetes and NAFLD, as increased testosterone causes insulin resistance and hyperinsulinaemia
44
What is hirsutism?
Excess hair, usually referring to women with male pattern hair distribution
45
Cause of hirsutism?
Androgen excess at hair follicle, due to: • Excess circulating androgen • Increased peripheral conversion at the hair follicle
46
Where does androgen biosynthesis occur?
In the ovaries and adrenal glands
47
Causes of hirsutism and the typical features of the different types?
Tend to have a long history and the testosterone is not dramatically elevated; there is no virilsation but may have deepening of voice and clitoromegaly: • PCOS (most common cause) • Familial, esp. Mediterranean population • Idiopathic • Non-classifical CAH Tend to have a short history with signs of virilisation: • Adrenal or ovarian tumour
48
What is Congenital Adrenal Hyperplasia?
Inherited group of disorders characterised by a deficiency in one of the enzymes necessary for cortisol synthesis, usually 21α-hydroxylase; autosomal recessive
49
Features of classic CAH?
Tends to be diagnosed in infancy with virilisation and salt-wasting
50
Features of non-classic CAH?
Partial 21α-hydroxylase deficiency Presents in adolescence/adulthood with: • Hirsutism • Menstrual disturbance • Infertility (due to anovulation)
51
Ix for CAH?
Synacthen test
52
Presentation of androgen-secreting tumours?
Rapid onset and is usually assoc. with signs of virilisation
53
Ix for androgen-secreting tumours
High testosterone (>5 nmol/L) MRI adrenal glands and ovaries (demonstrate tumours >1 cm)
54
Treatment of hyperandrogenism?
Depends on cause
55
Treatment of PCOS?
Oral contraceptive pill (regulates cycle and decreases ovarian androgens) Anti-androgens, e.g: cyproterone acetate (often combined with the oral contraceptive pill as Dianette) ``` Local anti-androgens: Efflornithine cream (Vaniqa) ``` Cosmesis, e.g: electrolysis or laser phototherapy
56
Treatment of non-classic, late onset CAH?
Low dose glucocorticoid to suppress ACTH drive
57
Karyotype in Turner's syndrome?
XO, i.e: female only has one X chromosome; other genotypes are less common (mosaicism) Thus, it only affects women
58
Main features of Turner's syndrome in paediatrics?
Short stature Webbed neck Shield chest with wide-spaced nipples Cubitus valgus Lymphoedema Failure to progress through puberty (normal adrenarche, breast development may be normal)
59
Main features of Turner;s syndrome in adults?
Primary or secondary amenorrhea Infertility
60
Other problems assoc. with Turner's syndrome?
CVS: • Coarctation of the aorta • Bicuspid aortic valve • Hypoplastic left heart GI • Bleed (vascular malformation) • Increased Crohn's/UC ``` Other: Lymphoedema • AI hypothyroidism • Osteoporosis • Scoliosis • Otitis media • Some have renal anomalies ```
61
What is XX gonadal dysgenesis?
Absent ovaries but no chromosomal abnormality
62
Describe testicular feminisation
Androgen insensitivity syndrome; the male is genetically XY but, in the complete form, phenotypically females i.e: pseudohermaphrodires
63
Types of male hypogonadism?
Primary: • Low testosterone with high LH/FSH • Acquired and congenital causes, e.g: Klinefelter's Secondary: • Low testosterone with inappropriate low LH/FSH • Pituitary/hypothalamic disease
64
History features of hypogonadism?
Sexual function (libido, erections, ejaculation) Age of puberty, shaving frequency, etc Fertility Symptoms of pituitary disease Duration of symptoms/features (permanent vs acquired) Other relevant history, e.g: trauma, infection, chemo/radiotherapy, etc
65
Signs of hypogonadism?
Staging of puberty (secondary of sexual characteristic) Testicular volume Visual fields/other pituitary disease
66
Flow chart for investigations of hypogonadism?
ADD PICTURE
67
What is Klinefelter's syndrome?
Most common congenital form of primary hypogonadism; the karyotype is 47 XXY (or mosaicism)
68
Ix results in Klinefelter's syndrome?
Low testosterone High LH/FSH (elevated SHBG or oestradiol)
69
Causes of secondary hypogonadism in men?
Congenital/idiopathic: • IHH, inc. Kallman’s syndrome (i.e. with anosmia) • CAH Functional: • Exercise, weight change, stress, systemic illness • Infiltrative disorders (e.g: cranial irradiation / trauma) • Drugs (e.g: anabolic steroids, opiates) • Hyperprolactinaemia • Hypothalamic or pituitary tumours / surgery • Prader-Willi syndrome
70
Testosterone replacement in male hypogonadism?
Indicated in young men but less clear in older men, i.e: >50 years It does not restore fertility (may actually act as a contraceptive)
71
Potential health benefits of testosterone replacement in male hypogonadism?
Improved sexual function (more effective in younger men) Bone health (improves BMD) Body composition/muscle strength Insulin sensitivity (possible small improvement in insulin sensitivity, minimal effect on HbA1c)
72
Why does gynaecomastia occur?
Increased oestrogen action on breast tissue
73
Causes of gynaecomastia?
Physiological Drugs (oestrogens, testosterone, spironolactone, digoxin, etc) Hypogonadism Tumours: • Oestrogen/androgen testicular or adrenal origin • hCG secreting, e.g: germinoma Endocrine disorders, e.g: thyrotoxicosis, Cushing's Systemic illness Hereditary disorders
74
Taking a history of gynaecomastia?
Duration of symptoms Pain? Symptoms of hypogonadism OR of systemic disease Recreational drugs/alcohol
75
Examination of gynaecomastia?
``` Breast tissue vs fat Unilateral/symmetrical Any hard irregular nodules Examination of testes (e.g: tumour) General examination (e.g: liver disease) ```
76
Ix fo gynaecomastia?
* Testosterone, LH, FSH * Oestradiol * Prolactin * AFP, HCG * LFTs * SHBG Breast imaging Testicular/adrenal imaging
77
Treatment of gynaecomastia?
Address underlying cause (e.g: remove causative drugs) and reassurance Surgery (cosmetic) Medication (e.g: anti-oestrogens)

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