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MBChB YR2 Endocrine > Disease Profiles: Reproductive Endocrinology > Flashcards

Disease Profiles: Reproductive Endocrinology Flashcards

1
Q

How would you investigate endometriosis?

A

US scan - uterus may be fixed and retroverted, ‘chocolate’ cysts may be visible

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2
Q

What is Kallmann’s syndrome?

A

Genetic disorder that causes that causes hypogonadotropic hypogonadism and an impaired sense of smell

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3
Q

Describe the clinical presentation of anorexia nervosa

A

Low BMI

Loss of hair

Increased lanugo

Low pulse and BP

Anaemia

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4
Q

How can pelvic inflammatory disorder affect fertility in women?

A

Can cause hydrosalpinx: Fallopian tube is blocked and fills with serous or clear fluid near the ovary

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5
Q

What is secondary infertility?

A

Couple previously conceived, although pregnancy may not have been successful e.g. miscarriage, ectopic pregnancy

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6
Q

Describe the management of male hypogonadism

A

Testosterone replacement

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7
Q

Describe the clinical presentation of endometriosis

A

Asymptomatic

Dysmenorrhoea (classically before menstruation)

Dysparenuria

Menorrhagia

Painful defaecation

Chronic pelvic pain

Infertility

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8
Q

What may cause premature ovarian failure?

A

Idiopathic

Genetic (Turner’s syndrome, fragile X)

Chemotherapy, radiotherapy

Oophorectomy

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9
Q

Why are LH/FSH levels increased in primary male hypogonadism?

A

Decreased testosterone results in decreased negative feedback to the anterior pituitary

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10
Q

How would you investigate Kallmann’s syndrome?

A

Hormone testing

Olfactory function testing

Genetic testing

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11
Q

Describe the management of Kallmann’s syndrome

A

Hormone replacement therapy

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12
Q

What is primary infertility?

A

Couple never conceived

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13
Q

How would you investigate male hypogonadism?

A
  1. Measure AM testosterone and repeat
  2. Measure LH/FSH
  3. Low LH/FSH indicates secondary hypogonadism, elevated LH/FSH indicates primary hypogonadism
  4. Look for cause e.g. karyotyping, pituitary MRI
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14
Q

Which form of male hypogonadism affects spermatogenesis and testosterone production equally?

A

Secondary

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15
Q

How would you manage type II anovulution (PCOS)?

A

Lifestyle - only induce ovulation when BMI under 30

  1. Clomifene citrate
  2. Metformin
  3. FSH injections
  4. Laparoscopic ovarian diathermy
  5. IVF
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16
Q

What is endometroisis?

A

The presence of endometrial glands outside the uterine cavity

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17
Q

What is Klinefelter’s syndrome?

A

Most common genetic cause of hypogonadism, only men affected

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18
Q

What is anorexia nervosa?

A

An eating disorder characterised by a pathological fear of gaining weight and distorted body image

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19
Q

How would you investigate Klinefelter’s syndrome?

A

Genetic testing - karyotyping

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20
Q

Describe the endocrine features of anorexia nervosa

A

Low FSH, LH and oestradiol

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21
Q

Which form of male hypogonadism affects spermatogenesis more than testosterone production?

A

Primary

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22
Q

Which type of anovulation disorder will result in low levels of FSH/LH and oestrogen deficiency (negative protesterone challenge)?

A

Group 1

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23
Q

Describe the clinical presentation of Kallmann’s syndrome

A

Hypogonadism

Hyposmia/anosmia

Isolated GnRh deficiency also associated with other abnormalities:

  • Unilateral renal agenesis
  • Red-green colour blindness
  • Cleft lip/palate
  • Bimanual synkinesis
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24
Q

What is premature ovarian failure?

A

Menopause before 40 years

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25
Q

Name the two indications for the surgery in the management of infertility

A
  1. Primary treatment e.g. division of pelvic adhesions, polypectomy
  2. To enhance IVF treatment e.g. laparoscopic salpingectomy in women with hydrosalpinges
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26
Q

How would you manage oligozoospermia?

A

Intrauterine insemitation in mild disease

Intracytopalsmic sperm injection (ICSI) - microinjection of the sperm into the egg

Surgical sperm aspiration (surgical sperm recovery) from epididymis or testicle combined with ICSI

Donor sperm insemination if no sperm found in aspiration

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27
Q

Describe the clinical presentation of Klinefelter’s syndrome

A

Presentation variable and therefore diagnosis can be missed or late

Affected men are typically infertile (due to tubular damage) and have small, firm testes

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28
Q

How would you investigate a women of a couple presenting with infertility?

A

Endocervical swab for chlamydia

Cervical smear if due

Blood for rubella immunity

Midluteal progesterone level

Test of tubal patency

Others if indicated - hysteroscopy, USS, endocrine profile and chromosomes

29
Q

What causes endometroisis?

A

Retrograde menstruation is most likely cause

Some evidence for altered immune function, abnormal cellular adhesion molecules, genetics

30
Q

How would you investigate a man of a couple presenting with infertility?

A

Semen analysis

If abnormal - endocrine profile

If severely abnormal/azoophermic - endocrine and genetic profile, CF screen, testicular biopsy

If abnormality on genital examination - scrotal US

31
Q

Name two congenital causes of secondary hypogonadism in males

A

Kallmann’s syndrome, Prader-Willi syndrome

32
Q

What type of malignancy are patients with Klinefelter’s syndrome at increased risk of?

A

Breast cancer and non-Hodgkin lymphoma

33
Q

Define infertility

A

Failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse (in absence of known reason) in a couple who have never had a child

34
Q

When would surgery be indicated in male infertility?

A

Obstructed vas deferens

35
Q

Describe the clinical presentation of pre-pubertal male hypogonadism

A

Small male sexual organs e.g. small testes (volume <5 mL), penis and prostate

Decreased body hair, high-pitched voice, low libido

Gynaecomastia

‘Eunuchoidal’ habitus (tall, slim, long arms and legs)

Decreased bone and muscle mass

36
Q

How would you examine a women of a couple presenting with infertility?

A

BMI, general exam, pelvic exam

37
Q

How would you investigate a women presenting with a suspected ovulatory disorder?

A

Hormone profile, progesterone challenge test, USS others as indicted e.g. genetics, autoantibody screen

38
Q

What are the two classes of male infertility?

A

Obstructive and non-obstructive

39
Q

How would you examine a man of a couple presenting with infertility?

A

BMI, general exam, genital exam

40
Q

Name two risks of ovulation induction/assisted conception

A

Ovarian hyperstimulation, multiple pregnancy

41
Q

Name two congenital causes of primary hypogonadism in males

A

Klinefelter’s syndrome

Cryptorchidism

42
Q

How would you manage type I anovulution?

A

Stabilise weight (BMI > 18.5)

Pulsatile GNRH (SC/IV pump worn continuously) OR gonadrotrophin (FSH + LH) daily injections

43
Q

Name a congenital cause of male hypogonadism which also causes asomnia

A

Kallmann’s syndrome

44
Q

What are the clinical features of non-obstructive male infertility?

A

Low testicular volume

Reduced secondary sexual characteristics

Vas deferens present

High LH and FSH, low testosterone

45
Q

How would you manage premature ovarian failure?

A

Hormone replacement therapy

Egg/embryo donation

Ovary/egg/embryo cryopreservation prior to chemo/radiotherapy where POF anticipated

Counselling/support network

46
Q

Describe the clinical presentation of pelvic inflammatory disoder

A

Abdominal/pelvic pain

Febrile

Vaginal discharge

Dyspareunia

Cervical excitation

Dysmenorrhoea

Infertility

Ectopic pregnancy

47
Q

Which type of anovulation disorder will result in high FSH and LH with low oestradiol?

A

Ovarian failure

48
Q

Name two acquired causes of primary hypogonadism in males

A

Testicular trauma/torsion, chemotherapy/radiation

49
Q

What causes PCOS?

A

Inherited condition, exacerbated by weight gain

50
Q

What is secondary male hypogonadism?

A

Hypothalamus/pituitary affected, testes capable of normal function

51
Q

What is PCOS?

A

Hetrogenous disorder characterised by hyperandrogenism, oligoovulation/anovulation and/or the presence of polycystic ovaries

52
Q

What causes type III anovulation?

A

Ovarian failure - menopause (may be premature)

53
Q

Which type of anovulation disorder will result in normal gonadotrophins/excess LH and normal oestrogen levels?

A

Group 2

54
Q

Describe the clinical presentation of post-pubertal male hypogonadism

A

Normal skeletal proportions, penis/prostate size and voice

Decreased libido, decreased sponaneous erectios

Decreased pubic/axillary hair, reduced shaving frequency

Decreased testicular volume

Gynaecomastia

Decreased muscle and bone mass

Decreased energy and motivation

55
Q

What causes type II anovulation?

A

Hypothalamic pituitary dysfunction, nearly always PCOS

56
Q

What is anovulatory infertility?

A

Infertility due to lack of ovulation

57
Q

What is the usual genotype of Klinefelter’s syndrome?

A

47 XXY

58
Q

How can PCOS lead to infertility?

A

Vast majority of patients will be insulin resistant, glucose intolerant or T2DM

Glucose acts as co-gonadotrophin to LH, and lowers SHBG levels so there is increased free testosterone

59
Q

What are the two types of tubal disease?

A

Infective (e.g. PID) and non-infective (e.g. endometriosis)

60
Q

Why is secondary male hypogonadism referred to as hypogonadotrophic hypogonadism?

A

LH/FSH low (or inappropriately normal) despite low testosterone

61
Q

Describe the clinical presentation of PCOS

A

Obesity

Hirsutism or acne

Menstrual cycle abnormalities and infertility

62
Q

Describe the clinical presentation of premature ovarian failure

A

Hot flushes

Night sweats

Atophic vaginitis

Amenorrhoea

Infertility

63
Q

What are the clinical features of obstructive male infertility?

A

Normal testicular volume

Normal secondary sexual characteristics

Vas deferens may be absent

Normal LH, FSH and testosterone

64
Q

Describe the clinical presentation of an ovulatory disorder

A

Infertility, oligomenorrhoea, amenorrhoea

65
Q

Name two acquired causes of secondary hypogonadism in males

A

Pituitary damage, hyperprolactinaemia

66
Q

Describe the process of IVF

A
  1. Pre IVF workup
  2. Ovarian stimulation (hormonal injection)
  3. Monitoring
  4. Ovulation induction
  5. Oocyte removal
  6. Preparation of sperms
  7. In vitro ferilization
  8. Embryo transfer - once embryo reaches the blastocyst stage (day 5)
  9. Luteal support
67
Q

What causes type 1 anovulation?

A

Hypothalamic pituitary failure - can be cause by stress, anorexia, excessive exercise, head trauma, Kallman’s syndrome, drugs

68
Q

What is primary male hypogonadism?

A

Primarily affects the testes, resulting in decreased testosterone

69
Q

What is male hypogonadism?

A

A clinical syndrome comprising of signs, symptoms and biochemical evidence of testosterone deficiency

MBChB YR2 Endocrine (23 decks)

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