Ovulation disorders Flashcards
What is oligomenorrhea?
Reduction in frequency of periods to less than 9 a year
What is primary amenorrhea?
Failure of menarche after age 16
What is secondary amenorrhea?
Cessation of periods for over 6 months in an individual who has previously menstruated
What are the physiological causes of amenorrhea?
Pregnancy
Post menopause
What are the causes of primary amenorrhea?
Congenital conditions (e.g turner’s, kallman’s)
What are the ovarian causes of secondary amenorrhea?
Polycystic ovarian syndrome
Premature ovarian failure
What are the uterine causes of secondary amenorrhea?
Uterine adhesions
What are the Hypothalamic causes of secondary amenorrhea?
Weight loss
Exercise
Stress
What are the pituitary causes of secondary amenorrhea?
High prolactin
Hypopituitarism
What are the symptoms of low oesteogen?
Low libido
Flushing
Dyspareunia (pain on sex)
What are the symptoms of hypothalamic problems?
Weight loss
Exercise
Stress
What are the features of androgen excess/PCOS?
Hirtuism
Acne
What would amenorrhea and anosmia indicated?
Kallman’s syndrome
What are the symptoms of hypopituitarism/pituitary tumour?
Galactorrhea
Are drugs associated with hyperprolactinemia?
Yes certain drugs (antidepressants, antipsychotics)
What should you look for on examination when someone presents with amenorrhea?
Body habitus (turners) Visual field defects Anosmia Breast development Hirsutism Acne Androgen excess
How should amenorrhea be investigated?
LH, FSH, oestradiol
Thyroid function
Prolactin
Ovarian USS +/- endometrial thickness Testosterone (hirsutism) Pituitary function tests Pituitary MRI Karyotype (primary)
What is female hypogonadism?
Low levels of oestrogen
What is primary hypogonadism?
Problem with the ovaries where there is high LH and FSH but low oestrogen (hypergonadotrophic hypogonadism)
What is an example of primary hypogonadism?
Premature ovarian failure
What is secondary hypogonadism?
Problem with hypothalamus or pituitary where there is low LH and FSH and low oestrogen (hypogonadotrophic hypogonadism)
Give two examples of secondary hypogonadism
High prolactin
Hypopituitarism
How do you differentiate between primary and secondary hypogonadism?
Primary - low oestradiol and high LH/FSH
Secondary - low oestradiol and low LH/FSH
What is premature ovarian failure and how does it present?
Loss of ovarian function occurring before 40 years old
Amenorrhea, low oestrogen and high gonadotrophins
What is the diagnostic criteria for premature ovarian failure?
FSH 430+ on 2 separate occasions more than 1 month apart
What are the chromosomal causes of premature ovarian failure?
Turner’s
Fragile X
What genetic mutations cause premature ovarian failure?
FSH/LH receptor mutations
What are the autoimmune conditions associated with premature ovarian failure?
Addison’s
Autoimmune thyroid disease
What are the iatrogenic causes of premature ovarian failure?
Radiotherapy
Chemotherapy
What are the hypothalamic causes of secondary hypogonadism?
Functional disorder
Kallman’s
Idiopathic hypogonadotrophic hypogonadism
What are the miscellaneous causes of secondary hypogonadism?
Prader-willi syndrome
Haemochromotosis
What are the causes of functional hypothalamic amenorrhea?
Weight change Stress Exercise Steroids Systemic illness Iatrogenic Head trauma Granulamatous disorders (sarcoid)
What is the biochemical picture of functional hypothalamic amenorrhea?
Low gonadotrophin releasing hormone
Low LH/FSH
Low estradiol
What other biochemical pathways are interrupted due to functional hypothalamic amenorrhea?
Low TSH
Low leptin
Increased corticosteroids –> increased cortisol
High ghrelin
What is Kallman’s syndrome?
Genetic disorder where there is a loss of GnRH with/without anosmia
Is Kallman’s syndrome more common in males or females?
Males
What is pituitary function and MRI appearance in Kallman’s syndrome?
Normal apart from LH/FSH
Missing olfactory bulbs
Is there typically a family history of Kallman’s disease?
Yes
What is the biochemical picture of pituitary dysfunction?
Low LH/FSH
Low oestradiol
What are the pituitary causes of hypogonadism?
Non-functioning adenoma Infarction Hyperprolactinemia (prolactinoma, dopamine antagonists)
What is the diagnostic criteria for polycystic ovarian syndrome?
2/3 of:
Menstrual irregularity
Hyperandrogenism
Polycystic ovaries
Is congenital adrenal hyperplasia sometimes associated with amenorrhea?
Yes
What is the oestrogen level like in PCOS?
Normal
What is the gonadotrophin level like in premature ovarian failure?
High
What are the androgen levels like in PCOS?
High
What is hirsutism?
Excess hair distributed in the male pattern
What are the causes of hirsutism?
PCOS
Congenital adrenal hyperplasia
Familial
Idiopathic
Ovarian tumour
Adrenal tumour
How do the non-tumour causes of hirsutism present?
Long history
Elevated testosterone
No signs of virilisation
How do the tumour causes of hirsutism present?
Short history
Very high testosterone
Signs of virilisation (clitomegaly, deep voice)
What is congenital adrenal hyperplasia?
Group of inherited genetic conditions characterised by a deficiency in one of the enzymes needed for cortisol synthesis
What is the most common enzyme deficiency in congenital adrenal hyperplasia?
21 alpha hydroxylase
Is congenital adrenal hyperplasia dominant or recessive?
Recessive
When does classic congenital adrenal hyperplasia present?
In infancy
When does non-classic congenital adrenal hyperplasia present?
In adolescence
Hirsutism
Menstrual irregularity
Infertility due to anovulation
How should hirsutism with a suspected tumour cause be investigated?
MRI adrenals and ovaries
How is PCOS treated?
Oral contraceptive
Anti-androgens (cyproterone acetate)
Local anti-androgens (efflornithine cream)
Cosmesis (electrolysis, laser)
How is low onset CAH treated?
Low dose glucocorticoid
What is the chromosomal abnormality of Turner’s syndrome?
Only one X chromosome
Which sex does turner’s syndrome affect?
Females
How does turner’s syndrome present?
Short stature Webbed neck Shield chest with wide spaced nipples Cubitus valgus Normal adrenarche With/without breast development Some pubertal development
How does Turner’s syndrome present in adults?
Primary or secondary amenorrhea
Infertility
Habitus
What are the CVS signs of turner’s syndrome?
Coarctation of the aorta
Bicuspid aortic valve
Hypoplastic left heart
What are the GI signs of turner’s syndrome?
Vascular malformation –> bleed
Increased incidence of UC/crohns
What are the mis symptoms of turner’s syndrome?
Lymphoedema Autoimmune hypothyroidism Osteoporosis Scoliosis Otitis media Renal abnormalities
What is XX gonadal dysgenesis?
Absent ovaries with no chromosomal abnormalities
What is testicular feminisation?
Androgen insensitivity syndrome (genetically XY but phenotypically female)
