Androgen deficiency Flashcards
What is the most common presentation of Klinefelter’s syndrome?
Primary infertility
What are the initial investigations you would do to investigate suspected hypogonadism / androgen deficiency?
Total testosterone
LH, FSH
semen analysis
If lethargy present, other causes: TSH, FBC, EUC, LFT, iron studies
How do you do a total testosterone test?
Morning between 8-10am, ideally after overnight fasting.
An abnormal result should be repeated for confirmation.
What instructions do you give to a man to collect a semen analysis?
Sexual abstinence for 2-7 days; laboratory that complies with WHO endorsed procedures (usually in labs associated with IVF); onsite collection advisable to avoid transportation issues
How do you confirm the diagnosis of Klinefelter’s syndrome?
Karyotype - 47XXY
What testicular size is suggestive of non-mosaic Klinefelter syndrome? (the only reliable physical finding)
2-4mL
What is normal adult testicular size?
15-35mL
What is the treatment of Klinefelter infertility?
Referral to a specialist with particular expertise in surgical sperm recovery. A testicular biopsy is done to extract 46XY sperm for ICSI. Only thereafter is testosterone replacement implemented (as will suppress LH/FSH drive, like a “contraceptive effect”, and reduce the chances of the sperm biopsy being successful).
What are the long-term implications of Klinefelter’s syndrome?
- Infertility
- Obesity - discuss weight loss
- Increased risk osteoporosis - do DEXA
- Increased risk hypothyroidism - check TSH
- Increased risk type 2 diabetes - check fasting BSL
- Learning difficulties, particularly with language
What are the treatment options for Klinefelter’s syndrome?
Lifelong testicular replacement therapy that restores virilisation, improves body composition and metabolic effects, and maintains wellbeing (won’t affect testicular size).
When should TRT be started in Klinefelter’s syndrome
Ideally mid-late puberty.
