Differentials
Cystic fibrosis (CF)
SIGNS / SYMPTOMS
Thick mucous secretions affect lung and gastrointestinal functioning. Patients often present with failure to thrive and recurrent respiratory tract infections.
Men with isolated congenital bilateral absence of vas deferens (CBAVD) with no other clinical signs of CF have a mutation in the CF transmembrane regulator gene in 80% of the cases.[9] If the diagnosis of CBAVD is made, the female partner should be screened for CF.
INVESTIGATIONS
Neonatal screening for CF is done in many countries.
Sweat testing measures the amount of sodium chloride in the sweat. There is excessive loss in CF.
Genetic testing is available, but testing is not available for all known gene mutations.
Primary hypogonadism
SIGNS / SYMPTOMS
Testes no longer produce adequate levels of testosterone, resulting in impotence, gynaecomastia, decreased beard and body hair, small testes, and infertility.
INVESTIGATIONS
Low testosterone level. Elevated follicle-stimulating hormone and LH.
Hypopituitarism
SIGNS / SYMPTOMS
Partial or complete loss of anterior pituitary gland function. If follicle-stimulating hormone (FSH) and LH production is affected, male patients may present with impotence, decreased beard and body hair, small testes, and infertility.
INVESTIGATIONS
May have decreased LH and FSH.
MRI of the pituitary fossa may show a pituitary or hypothalamic lesion.
Pituitary adenoma
SIGNS / SYMPTOMS
A prolactin-producing tumour results in impotence, headaches, and visual disturbance. Galactorrhoea may rarely be present.
INVESTIGATIONS
Prolactin levels are elevated.
MRI shows a tumour in the pituitary gland.
Klinefelter syndrome
SIGNS / SYMPTOMS
Men have small testes, gynaecomastia, incomplete androgenisation, and infertility due to severe oligozoospermia or complete azoospermia.[16]
INVESTIGATIONS
Chromosomal analysis shows XXY.
Kartagener syndrome
SIGNS / SYMPTOMS
Also known as immotile cilia syndrome. Ciliary dyskinesia affects the respiratory tract and spermatozoa. Patients may have a long history of sinusitis, recurrent ear infections, chronic bronchitis, or bronchiectasis.
INVESTIGATIONS
Diagnosis confirmed on mucosal histological specimen and electron microscopy.
Varicocele
SIGNS / SYMPTOMS
Dilation of the veins of the pampiniform plexus of the scrotum. They occur commonly on the left side. The patient should be examined while standing.
INVESTIGATIONS
Colour Doppler ultrasound will confirm backflow of blood in the spermatic veins.
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