HOW TO TREAT 27
ausdoc . com . au 13 SEPTEMBER 2024
HOW TO TREAT 27
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Image courtesy of Dr T Geertsma ultrasoundcases . info
Figure 12 . Sperm retrieval procedure with microscopic testicular sperm extraction .
How to Treat Quiz .
1 . Which THREE statements regarding male infertility are correct ? a Male infertility contributes to 30-50 % of causes in the 15 % of couples who are unable to conceive over a 12-month period . b Genetic abnormalities associated with male infertility are responsible for 15-30 % of cases . c Many genetic tests are not widely available in clinical practice . d Comprehensive history and examination plus specific laboratory tests will identify about 50 % of diagnoses .
2 . Which THREE are indications for genetic testing in infertile patients ? a All patients . b Non-obstructive azoospermia . c Severe oligospermia . d Non-palpable vasa .
3 . Which TWO statements regarding genetic karyotyping with chromosomal analysis are correct ? a Chromosomal abnormalities are twice as common in infertile males than in the general population . b The severity of the phenotypic manifestations depends on which chromosomes are affected . c Chromosomal anomalies can be detected in most males with primary infertility . d Specific syndromes and / or diseases associated with sex chromosomes have been closely related to male infertility .
4 . Which THREE may be features of Klinefelter syndrome ? a Short stature . b Small testes and underlying testicular failure . c No discernible diagnostic features on history or examination . d Disorders related to insulin resistance .
5 . Which TWO statements regarding Y chromosome microdeletion are correct ? a Microdeletions in the long arm of the Y chromosome containing the azoospermia factor gene often result in abnormal spermatogenesis . b Genetic counselling is advised for couples during the fertility evaluation . c These deletions are passed on to all children born through assisted reproduction .
GENETIC EVALUATION OF MALE INFERTILITY
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d Deletion of the azoospermia factor C locus is very rare .
6 . Which THREE may be features of cystic fibrosis ? a Congenital bilateral absence or atresia of the vas deferens . b Epididymal malformations . c Low semen volume or high pH azoospermia on semen analysis . d Normal spermatogenesis .
7 . Which TWO are more common features of Kallmann syndrome ? a Failure to develop secondary sex characteristics . b Undescended testes . c Osteopenia . d Anosmia .
8 . Which THREE statements regarding hormone receptor genes are correct ? a In most cases , the levels of most of the serum hormones are well below the normal male reference range . b The clinical utility of these tests in assisted reproductive technology is limited unless hormonal manipulation restores the process of spermatogenesis .
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c Various steroidal and androgen pathways play a critical role in the development and maintenance of spermatogenesis . d Mutations can cause a range of phenotypic abnormalities in male sexual development .
9 . Which TWO statements regarding sperm epigenetics are correct ? a RNA can serve as a useful biomarker to predict the fertility success rate . b These tests are widely available and easy to perform . c Anomalies in sperm mitochondrial DNA may lead to male infertility . d Recent studies on sperm epigenetics showed that DNA mutations do not adversely influence sperm parameters or quality .
10 . Which THREE statements are correct ? a An aetiology for male infertility is found in 80 % of cases . b Proteomic and metabolomic profiles of the sperm have limited clinical use . c It is important to discuss genetic testing and its implications with all couples . d Many genetic tests are not available outside of expert male reproductive units .
PAGE 25 judgement on what is clinically relevant to patients ’ needs and preferences based on available local expertise and resources .
Recent scientific advances in genomic sequencing have transformed diagnostic capabilities and assisted in the development of novel treatments aimed at newly discovered genetic targets associated with male infertility . Increasingly , multi-model testing involving technology for epigenetics , proteomics , transcriptomics and metabolomics , can assist in the identification of important prognostic factors in male infertility , although this remains largely experimental in clinical utility and requires further validation before it can be accepted as the new standard of care .
Since many medical conditions and lifestyle and environmental factors can lead to a negative impact on male fertility , GPs have an important role in educating patients about these modifiable factors . Consideration of possible male factor infertility is essential in the assessment of a couple not able to start a family , and the GP is able to facilitate and streamline the initial assessment of male infertility before referral to a specialist . The GP has a pivotal role in improving the fertility potential and optimising the overall health of the male patient .
RESOURCES
• Healthy Male ( previously Andrology Australia ) healthymale . org . au
• Your Fertility yourfertility . org . au / for-professionals
References Available on request from howtotreat @ adg . com . au
Figure 13 . Microlithiases of the testes on ultrasound .