AI Article Synopsis
- Sexual phenotype is typically determined by the presence of the Y chromosome, but some individuals can develop male genitalia with a 46,XX karyotype due to unusual chromosomal exchanges during male meiosis.
- A case study discusses an adolescent with bilateral gynecomastia, diagnosed with hypergonadotropic hypogonadism and found to have one of his X chromosomes carrying the relevant gene locus.
- Management of such cases benefits from a multidisciplinary approach, including psychological support, genetic counseling, and recommendations for regular self-examinations and ultrasounds to monitor potential neoplastic transformations of the dysgenetic gonads.
Article Abstract
An individual's sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the absence of the Y chromosome. This case report presents an adolescent referred to the Pediatric Endocrinology Unit due to bilateral gynecomastia. A diagnosis of hypergonadotropic hypogonadism was established and chromosomal analysis disclosed 46,XX karyotype, with the gene locus found on one of his X chromosomes. A multidisciplinary approach, including psychological support and genetic counseling, is ideal for the management of these patients. Neoplastic transformation of the dysgenetic gonads has been described in several cases, and hence self-examinations and regular ultrasounds are commonly advised.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958519 | PMC |
| http://dx.doi.org/10.1297/cpe.29.43 | DOI Listing |
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