Cryptorchidism overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Saumya Easaw, M.B.B.S.[2]
Overview
Cryptorchidism is the absence of one or both testes from the scrotum. This usually represents failure of the testis to move, or descend, during fetal development from an abdominal position, through the inguinal canal, into the ipsilateral scrotum. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis, making cryptorchidism the most common birth defect of male genitalia. However, most testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall.
Historical Perspective
Cryptorchidism is derived from the Greek words "crypto" (meaning "hidden") and "orchid" (meaning "testicle"). During the last century, cryptorchidism was sometimes restricted to the subset of undescended testes that were not palpable above the scrotum or in the inguinal canal — those that were truly hidden in the abdomen or completely absent. In recent decades the distinction is no longer made in most contexts, and the two terms are used interchangeably. Cryptorchism is an older variant of the same term.
Causes
In most full-term infant boys with cryptorchidism but no other genital abnormalities, a cause cannot be found, making this a common, sporadic, unexplained (idiopathic) birth defect.
Although severely premature infants can be born before descent of testes, there is a strong association of cryptorchidism with low birthweight due to either prematurity or intrauterine growth retardation. In these infants there is usually no evidence of hormonal malfunction. Associated inguinal hernias are common.
Hormonal abnormalities (deficiency or insensitivity to androgens or anti-müllerian hormone) can be demonstrated in a high proportion of those with evidence of undervirilization or ambiguity such as hypospadias or micropenis.
A contributing role of environmental chemicals — endocrine disruptors — that interfere with normal fetal hormone balance has been proposed as well, similar to the effects of diethylstilbestrol exposure. It is rarely possible to implicate a specific chemical exposure for an individual child.
Occasional instances of other genetic defects involving development or function of the gubernaculum have been reported. Homeobox gene mutations can cause cryptorchidism in animals but remain a largely theoretical possibility in humans.
Rare iatrogenic cases have also been reported in which hernia repair or other surgery in the inguinal area resulted in trapping of a testis above the scrotum.
A 2006 study showed that regular alcohol consumption during pregnancy (5 or more drinks per week) is associated with a 3x increase in cryptorchidism, when compared to non-drinking mothers. Other previously known risk factors include exposure to pesticides, low birth weight (including premature birth), gestational diabetes and being a twin[3].