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PubMed · 1674244

The undescended testicle.

Abstract

Cryptorchidism results from a complex hereditary series of incompletely understood events involving the HPG axis. The incidence is indirectly related to birth weight and dramatically decreases during the first 3 months after birth. Many nonscrotal testes are retractile and require no therapy whatsoever. True cryptorchid testes develop identifiable histologic alterations within 2 years of parturition, and endocrine abnormalities are often detectable during infancy. Hormonal therapy with hCG is effective in causing descent in only a small percent of children with cryptorchidism. GnRH nasal spray is no different from placebo in double-blind studies in which retractile testes have been excluded. The results are best in low-lying testes and in older children, but a recognized late-failure rate requires continued surveillance. HCG therapy appears to be of little use in nonpalpable cryptorchid testes. The risk of testicular cancer is increased in men with a history of cryptorchidism and even includes the contralateral descended testes. This risk may be reduced by early orchidopexy. Fertility is impaired in men with cryptorchidism and is reported to be no better than 75% and 50%, respectively, in men who have undergone successful unilateral or bilateral orchidopexy. There is unconfirmed evidence that orchidopexy carried out before the age of 2 years may improve these fertility rates. It is recommended that all children with cryptorchid testes undergo treatment by the age of 1 or 2 years. The parents of children with a nonpalpable testis should be informed of the high rate of testicular absence. If hormonal therapy is to be used, it must be initiated at 10 months of age. Treatment failures must be identified quickly to allow prompt referral of these children to a pediatric urologist or surgeon for orchidopexy.

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BibTeXRIS

J M Palmer. 1991. The undescended testicle.. https://pubmed.ncbi.nlm.nih.gov/1674244/

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Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility.

BACKGROUND: A specific haplotype (AGATA) in the estrogen receptor alpha (ER1) gene was recently described as a new risk factor for cryptorchidism in the Japanese population. In this ethnic group, single-nucleotide polymorphism 12 (SNP12) was concluded to be the tag SNP for the AGATA haplotype. MATERIALS AND METHODS: A large group of patients (total number=335) and controls (total number=567) of two Caucasian populations were analysed for the AGATA haplotype and SNP12 to verify whether this genetic variant and its tag SNP were associated with cryptorchidism or with severe spermatogenic failure. RESULTS: We confirm that SNP12 is the tag SNP for the AGATA haplotype also in Caucasians. However, in contrast with the Japanese population we found a protective effect for ESR1 SNP12 on cryptorchidism in the Italian population. No association between SNP12 and severe spermatogenic disturbances was observed. CONCLUSIONS: The observed associations (although with opposite effect) with cryptorchidism encourage future studies on independent cases and controls from different ethnic and geographic origins. On the other hand, in contrast with other ESR1 polymorphisms, SNP12 polymorphism is not associated with severe male factor infertility in two independent European population.

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[Effects of estrogens on the development of the testis during fetal and neonatal life].

Estrogens are classically known to play a major role in female reproduction but there is now compelling evidence that they may also be involved in the regulation of male reproductive function. In humans, a decrease in sperm count and an increase in the incidences of testicular cancer, cryptorchidism and hypospadia have been observed in many countries over the last 50 years. Male reproductive alterations were also observed in wildlife. Such male reproductive disorders have been attributed to the increase in concentration of xenobiotics, and of xenoestrogens in particular, in the environment and in food. Epidemiological, clinical and experimental studies have suggested that excessive exposure to estrogens during fetal/neonatal life can lead to reproductive disorders in adulthood. Using an in vitro model we showed that estrogens directly affected the development of the fetal testis and we evidenced the existence of periods of sensitivity throughout development. Lastly, we clearly demonstrated that the fetal and neonatal testis is very sensitive to estrogens since the invalidation of estrogen receptor alpha leads to an increase of steroidogenesis and the invalidation of estrogen receptor beta enhances the development of the germ cell lineage in the male.

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[Increased risk of testicular dysgenesis?].

The latest figures from the Cancer Registry of Norway show that Norway has the highest incidence rate of testicular cancer in the world. They also show that the incidence rate continues to increase, as it has for the last decades in the western world. The reasons for this increase, which might also be true for urogenital abnormalities in men and reduced sperm quality, are uncertain. Data suggest, however, that these anomalies originate in foetal life, and that contributing factors are genetic, pregnancy-related and environmental. The potential importance of environmental factors must be taken seriously, and the authorities must take action to strengthen the research in this area.

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