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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
Name the two indications for the surgery in the management of infertility
1. Primary treatment e.g. division of pelvic adhesions, polypectomy 2. To enhance IVF treatment e.g. laparoscopic salpingectomy in women with hydrosalpinges
26
How would you manage oligozoospermia?
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
27
Describe the clinical presentation of Klinefelter's syndrome
Presentation variable and therefore diagnosis can be missed or late Affected men are typically infertile (due to tubular damage) and have small, firm testes
28
How would you investigate a women of a couple presenting with infertility?
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
What causes endometroisis?
Retrograde menstruation is most likely cause Some evidence for altered immune function, abnormal cellular adhesion molecules, genetics
30
How would you investigate a man of a couple presenting with infertility?
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
Name two congenital causes of secondary hypogonadism in males
Kallmann's syndrome, Prader-Willi syndrome
32
What type of malignancy are patients with Klinefelter's syndrome at increased risk of?
Breast cancer and non-Hodgkin lymphoma
33
Define infertility
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
When would surgery be indicated in male infertility?
Obstructed vas deferens
35
Describe the clinical presentation of pre-pubertal male hypogonadism
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
How would you examine a women of a couple presenting with infertility?
BMI, general exam, pelvic exam
37
How would you investigate a women presenting with a suspected ovulatory disorder?
Hormone profile, progesterone challenge test, USS others as indicted e.g. genetics, autoantibody screen
38
What are the two classes of male infertility?
Obstructive and non-obstructive
39
How would you examine a man of a couple presenting with infertility?
BMI, general exam, genital exam
40
Name two risks of ovulation induction/assisted conception
Ovarian hyperstimulation, multiple pregnancy
41
Name two congenital causes of primary hypogonadism in males
Klinefelter's syndrome Cryptorchidism
42
How would you manage type I anovulution?
Stabilise weight (BMI \> 18.5) Pulsatile GNRH (SC/IV pump worn continuously) OR gonadrotrophin (FSH + LH) daily injections
43
Name a congenital cause of male hypogonadism which also causes asomnia
Kallmann's syndrome
44
What are the clinical features of non-obstructive male infertility?
Low testicular volume Reduced secondary sexual characteristics Vas deferens present High LH and FSH, low testosterone
45
How would you manage premature ovarian failure?
Hormone replacement therapy Egg/embryo donation Ovary/egg/embryo cryopreservation prior to chemo/radiotherapy where POF anticipated Counselling/support network
46
Describe the clinical presentation of pelvic inflammatory disoder
Abdominal/pelvic pain Febrile Vaginal discharge Dyspareunia Cervical excitation Dysmenorrhoea Infertility Ectopic pregnancy
47
Which type of anovulation disorder will result in high FSH and LH with low oestradiol?
Ovarian failure
48
Name two acquired causes of primary hypogonadism in males
Testicular trauma/torsion, chemotherapy/radiation
49
What causes PCOS?
Inherited condition, exacerbated by weight gain
50
What is secondary male hypogonadism?
Hypothalamus/pituitary affected, testes capable of normal function
51
What is PCOS?
Hetrogenous disorder characterised by hyperandrogenism, oligoovulation/anovulation and/or the presence of polycystic ovaries
52
What causes type III anovulation?
Ovarian failure - menopause (may be premature)
53
Which type of anovulation disorder will result in normal gonadotrophins/excess LH and normal oestrogen levels?
Group 2
54
Describe the clinical presentation of post-pubertal male hypogonadism
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
What causes type II anovulation?
Hypothalamic pituitary dysfunction, nearly always PCOS
56
What is anovulatory infertility?
Infertility due to lack of ovulation
57
What is the usual genotype of Klinefelter's syndrome?
47 XXY
58
How can PCOS lead to infertility?
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
What are the two types of tubal disease?
Infective (e.g. PID) and non-infective (e.g. endometriosis)
60
Why is secondary male hypogonadism referred to as hypogonadotrophic hypogonadism?
LH/FSH low (or inappropriately normal) despite low testosterone
61
Describe the clinical presentation of PCOS
Obesity Hirsutism or acne Menstrual cycle abnormalities and infertility
62
Describe the clinical presentation of premature ovarian failure
Hot flushes Night sweats Atophic vaginitis Amenorrhoea Infertility
63
What are the clinical features of obstructive male infertility?
Normal testicular volume Normal secondary sexual characteristics Vas deferens may be absent Normal LH, FSH and testosterone
64
Describe the clinical presentation of an ovulatory disorder
Infertility, oligomenorrhoea, amenorrhoea
65
Name two acquired causes of secondary hypogonadism in males
Pituitary damage, hyperprolactinaemia
66
Describe the process of IVF
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
What causes type 1 anovulation?
Hypothalamic pituitary failure - can be cause by stress, anorexia, excessive exercise, head trauma, Kallman's syndrome, drugs
68
What is primary male hypogonadism?
Primarily affects the testes, resulting in decreased testosterone
69
What is male hypogonadism?
A clinical syndrome comprising of signs, symptoms and biochemical evidence of testosterone deficiency

MBChB YR2 Endocrine (23 decks)

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