Disease Profiles: Reproductive Endocrinology Flashcards
How would you investigate endometriosis?
US scan - uterus may be fixed and retroverted, ‘chocolate’ cysts may be visible
What is Kallmann’s syndrome?
Genetic disorder that causes that causes hypogonadotropic hypogonadism and an impaired sense of smell
Describe the clinical presentation of anorexia nervosa
Low BMI
Loss of hair
Increased lanugo
Low pulse and BP
Anaemia
How can pelvic inflammatory disorder affect fertility in women?
Can cause hydrosalpinx: Fallopian tube is blocked and fills with serous or clear fluid near the ovary
What is secondary infertility?
Couple previously conceived, although pregnancy may not have been successful e.g. miscarriage, ectopic pregnancy
Describe the management of male hypogonadism
Testosterone replacement
Describe the clinical presentation of endometriosis
Asymptomatic
Dysmenorrhoea (classically before menstruation)
Dysparenuria
Menorrhagia
Painful defaecation
Chronic pelvic pain
Infertility
What may cause premature ovarian failure?
Idiopathic
Genetic (Turner’s syndrome, fragile X)
Chemotherapy, radiotherapy
Oophorectomy
Why are LH/FSH levels increased in primary male hypogonadism?
Decreased testosterone results in decreased negative feedback to the anterior pituitary
How would you investigate Kallmann’s syndrome?
Hormone testing
Olfactory function testing
Genetic testing
Describe the management of Kallmann’s syndrome
Hormone replacement therapy
What is primary infertility?
Couple never conceived
How would you investigate male hypogonadism?
- Measure AM testosterone and repeat
- Measure LH/FSH
- Low LH/FSH indicates secondary hypogonadism, elevated LH/FSH indicates primary hypogonadism
- Look for cause e.g. karyotyping, pituitary MRI
Which form of male hypogonadism affects spermatogenesis and testosterone production equally?
Secondary
How would you manage type II anovulution (PCOS)?
Lifestyle - only induce ovulation when BMI under 30
- Clomifene citrate
- Metformin
- FSH injections
- Laparoscopic ovarian diathermy
- IVF
What is endometroisis?
The presence of endometrial glands outside the uterine cavity
What is Klinefelter’s syndrome?
Most common genetic cause of hypogonadism, only men affected
What is anorexia nervosa?
An eating disorder characterised by a pathological fear of gaining weight and distorted body image
How would you investigate Klinefelter’s syndrome?
Genetic testing - karyotyping
Describe the endocrine features of anorexia nervosa
Low FSH, LH and oestradiol
Which form of male hypogonadism affects spermatogenesis more than testosterone production?
Primary
Which type of anovulation disorder will result in low levels of FSH/LH and oestrogen deficiency (negative protesterone challenge)?
Group 1
Describe the clinical presentation of Kallmann’s syndrome
Hypogonadism
Hyposmia/anosmia
Isolated GnRh deficiency also associated with other abnormalities:
- Unilateral renal agenesis
- Red-green colour blindness
- Cleft lip/palate
- Bimanual synkinesis
What is premature ovarian failure?
Menopause before 40 years
Name the two indications for the surgery in the management of infertility
- Primary treatment e.g. division of pelvic adhesions, polypectomy
- To enhance IVF treatment e.g. laparoscopic salpingectomy in women with hydrosalpinges
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
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
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
What causes endometroisis?
Retrograde menstruation is most likely cause
Some evidence for altered immune function, abnormal cellular adhesion molecules, genetics
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
Name two congenital causes of secondary hypogonadism in males
Kallmann’s syndrome, Prader-Willi syndrome
What type of malignancy are patients with Klinefelter’s syndrome at increased risk of?
Breast cancer and non-Hodgkin lymphoma
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
When would surgery be indicated in male infertility?
Obstructed vas deferens
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
How would you examine a women of a couple presenting with infertility?
BMI, general exam, pelvic exam
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
What are the two classes of male infertility?
Obstructive and non-obstructive
How would you examine a man of a couple presenting with infertility?
BMI, general exam, genital exam
Name two risks of ovulation induction/assisted conception
Ovarian hyperstimulation, multiple pregnancy
Name two congenital causes of primary hypogonadism in males
Klinefelter’s syndrome
Cryptorchidism
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
Name a congenital cause of male hypogonadism which also causes asomnia
Kallmann’s syndrome
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
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
Describe the clinical presentation of pelvic inflammatory disoder
Abdominal/pelvic pain
Febrile
Vaginal discharge
Dyspareunia
Cervical excitation
Dysmenorrhoea
Infertility
Ectopic pregnancy
Which type of anovulation disorder will result in high FSH and LH with low oestradiol?
Ovarian failure
Name two acquired causes of primary hypogonadism in males
Testicular trauma/torsion, chemotherapy/radiation
What causes PCOS?
Inherited condition, exacerbated by weight gain
What is secondary male hypogonadism?
Hypothalamus/pituitary affected, testes capable of normal function
What is PCOS?
Hetrogenous disorder characterised by hyperandrogenism, oligoovulation/anovulation and/or the presence of polycystic ovaries
What causes type III anovulation?
Ovarian failure - menopause (may be premature)
Which type of anovulation disorder will result in normal gonadotrophins/excess LH and normal oestrogen levels?
Group 2
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
What causes type II anovulation?
Hypothalamic pituitary dysfunction, nearly always PCOS
What is anovulatory infertility?
Infertility due to lack of ovulation
What is the usual genotype of Klinefelter’s syndrome?
47 XXY
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
What are the two types of tubal disease?
Infective (e.g. PID) and non-infective (e.g. endometriosis)
Why is secondary male hypogonadism referred to as hypogonadotrophic hypogonadism?
LH/FSH low (or inappropriately normal) despite low testosterone
Describe the clinical presentation of PCOS
Obesity
Hirsutism or acne
Menstrual cycle abnormalities and infertility
Describe the clinical presentation of premature ovarian failure
Hot flushes
Night sweats
Atophic vaginitis
Amenorrhoea
Infertility
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
Describe the clinical presentation of an ovulatory disorder
Infertility, oligomenorrhoea, amenorrhoea
Name two acquired causes of secondary hypogonadism in males
Pituitary damage, hyperprolactinaemia
Describe the process of IVF
- Pre IVF workup
- Ovarian stimulation (hormonal injection)
- Monitoring
- Ovulation induction
- Oocyte removal
- Preparation of sperms
- In vitro ferilization
- Embryo transfer - once embryo reaches the blastocyst stage (day 5)
- Luteal support
What causes type 1 anovulation?
Hypothalamic pituitary failure - can be cause by stress, anorexia, excessive exercise, head trauma, Kallman’s syndrome, drugs
What is primary male hypogonadism?
Primarily affects the testes, resulting in decreased testosterone
What is male hypogonadism?
A clinical syndrome comprising of signs, symptoms and biochemical evidence of testosterone deficiency
