Congenital Testicular Conditions - Overview and Management

Congenital testicular conditions are conditions affecting the testicles that are present at birth. These may include undescended testicles and congenital abnormalities.
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Common Congenital Testicular Conditions | Diagnostic Procedures For Testicular Abnormalities | Long-term Effects Of Untreated Conditions | Congenital Testicular Abnormalities | Undescended Testicle In Newborns | Treatment For Congenital Testicular Conditions
Prepared by Nick Harper, reviewed by Dr. David James Simpson

Congenital Testicular Conditions FAQ


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What is congenital absence of the testes (anorchia)?

Congenital absence of the testes (anorchia) is a very rare condition where the testes are absent when a baby is born. The testes are two egg-shaped male reproductive organs located in the scrotum (a sack or pouch that contains the testes). The testes produce sperm and the male hormone testosterone.

What causes abnormal spermatogenesis in undescended testis?

Because of the higher temperature, undescended testes undergo degenerative changes to the cells, leading to abnormal spermatogenesis . Biopsy of the undescended testis frequently shows a decreased number of germ cells and an absence of progression beyond the formation of spermatocytes in the testicular tubules.

What causes undescended testes?

Abnormal testes or gubernaculum, or anatomical structural abnormalities (prune belly syndrome and the Beckwith–Wiedemann syndrome, that is, exopthalmos, macroglossia, gigantism, macrostoma, hemihypertrophy, hypoglycaemia, and multilobulated kidneys) can also lead to undescended testes.

What if testicular tissue is absent from the scrotum?

Testes may be absent from the scrotum but may be present within the abdomen which is where they come from in fetal life. It is important to look for a male sex hormone (testosterone) response. If present, the testicular tissue needs to be found because of the potential for development of cancer in this tissue (malignancy).

Why do Fetal testicular abnormalities occur?

It may be due to a disruption in the hormonal control of testicular descent during fetal development [ Yeap, 2019]. Abnormalities in the hypothalamic-pituitary axis have been identified in about 20–30% of boys with undescended testes [ Hutson, 2017 ].

What causes undescended testis?

Undescended testes: What causes it? The exact cause of undescended testis is not fully understood, and most affected infants and boys have no identifiable cause for the condition [ Virtanen and Toppari, 2008]. It may be due to a disruption in the hormonal control of testicular descent during fetal development [ Yeap, 2019].

Congenital Testicular Conditions References

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