PubMed · 14448104
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1960. [Testicular ectopia].. https://pubmed.ncbi.nlm.nih.gov/14448104/
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Nearly 28% of pediatric Spigelian hernias reported in the literature are associated with ipsilateral cryptorchidism. However, the pathogenetic relationship between the two has not been satisfactorily explained in the past. This paper describes a male neonate born with cryptorchidism and imperforate anus. Anal stenosis following the treatment of imperforate anus had let to the development of multiple hernias including Spigelian hernia on the right side. Surgical exploration revealed the right testis being located within the Spigelian hernia. Based on the sequence of events, it is hypothesized that Spigelian hernia in this case is a sequela of maldescended testis and raised intraabdominal pressure. As this explanation is also applicable to all of the previously reported cases, the author suggests that the combination of Spigelian hernia and ipsilateral cryptorchidism could probably form a hitherto unrecognized new syndrome.
Cryptorchidism, generally referred to a failure of testicular descent into the scrotum, is the most frequent (up to 3-4% at birth) congenital anomaly in newborn boys. Cryptorchidism is closely associated with impaired fertility, and represents an established risk factor for testicular cancer. Like other genital defects, cryptorchidism is believed to be caused by either endocrine or genetic abnormalities, or both. Recent elucidation of the molecular mechanism of the rodent testicular descent, and, in particular, the critical role of Insl3 (insulin-like 3) and its receptor Great/Lgr8 encouraged the search for naturally occurring mutations in the human homologues of these genes in the affected patient population. Genetic analysis revealed several functionally deleterious mutations in both INSL3 and GREAT/LGR8 genes. However, although some of mutations were found only in cryptorchid patients, it remains to be verified whether there is a causative link between the presence of mutations in INSL3 or GREAT/LGR8 and the undescended testis phenotype in men. The data and analysis of published studies indicate that mutations in these two genes might account for only a small portion of all cases of this disease in the human population.
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