Testicular dysgenesis syndrome: Difference between revisions
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== Presentation and Diagnosis == |
== Presentation and Diagnosis == |
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[[File:Hypospadias-lg.jpg|thumb|257x257px|Hypospadias]] |
[[File:Hypospadias-lg.jpg|thumb|257x257px|Hypospadias]] |
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Revision as of 10:23, 28 September 2016
Presentation and Diagnosis
Hypospadias
Hypospadias presents as an abnormal location for the end of the urethra which is typically found on the distal end of the penis[1]. It is generally diagnosed at birth from visual confirmation of the hallmark features. As well as an unusual location of the urethra, the prepuce (foreskin) is typically incomplete as well. The abnormal ‘hooded’ prepuce is what often draws attention to the condition but can occur separately to hypospadias.
Cryptorchidism
In Cryptorchidism a diagnosis is made from a physical examination which is performed when the baby is lacking one or both testes in the dependant portion of the scrotal sac[2]. 70% of cryptorchid testes can be felt and are unable to be pulled into the scrotum or retreats quickly after being pulled into a higher position. In 30% of cases the testes cannot be felt indicating an intra-abdominal location. The risk factors for Cryptorchidism are:
- A family history of the condition
- Low birth weight
- Prematurity
Poor Semen Quality
Poor semen quality is measured not only by the number of sperm a man produces but also by how effective the sperm is at fertilising an egg. The motility and shape of the sperm are important for this role. A man with poor semen quality will often present with fertility problems which is defined as a couple trying to conceive for over 1 year with no success[3]. Diagnosis can be made from semen analysis, taking a sample of the man’s semen and running tests to count numbers and quality of the individual sperm.
Testicular Cancer
The most common presentation of Testicular cancer is a hard, painless lump which can be felt on one of the testis. It is either noticed by a clinician during a routine examination, or the patient themselves[4]. Risk factors for TC include:
- Cryptorchidism
- Family History
- Previous Testicular Cancer
- Being White
The diagnosis is confirmed in different ways. An ultrasound scan can be used to diagnose to a 90-95% accuracy. Bloods can also be taken to look for elevated tumour markers which is also used to analyse the patient’s response to treatment. 80% of testicular cancer cases are from the 20-34 year old age range[5].