{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T13:07:37Z","timestamp":1787663257416,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T00:00:00Z","timestamp":1662508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The translocation of\n                      <jats:italic>SRY<\/jats:italic>\n                      onto one of the two X chromosomes results in a 46,XX testicular disorder of sex development; this is supposedly because of non\u2010allelic homologous recombination between the protein kinase X gene (\n                      <jats:italic>PRKX<\/jats:italic>\n                      ) and the inverted protein kinase Y pseudogene (\n                      <jats:italic>PRKY<\/jats:italic>\n                      ). Although 46,XX\n                      <jats:italic>SRY<\/jats:italic>\n                      \u2010positive men are infertile, the literature data indicate that some of these individuals are of short stature (relative to the general population). We sought to determine whether short stature was linked to additional, more complex chromosomal rearrangements.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Twelve laboratories gathered detailed clinical, anthropomorphic, cytogenetic and genetic data (including chromosome microarray data) on patients with 46,XX\n                      <jats:italic>SRY<\/jats:italic>\n                      \u2010positive male syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>SRY<\/jats:italic>\n                      was present (suggesting a der(X)t(X;Y)) in 34 of the 38 cases (89.5%). When considering only the 20 patients with chromosome microarray data, we identified several chromosomal rearrangements and breakpoints, especially on the X chromosome. In the five cases for whom the X chromosome breakpoint was located in the pseudoautosomal region, there was partial duplication of the derivate X chromosome. In contrast, in the 15 cases for whom the breakpoint was located downstream of the pseudoautosomal region, part of the derivate X chromosome had been deleted (included the arylsulfatase E [\n                      <jats:italic>ARSE<\/jats:italic>\n                      ] gene in 11 patients). For patients with versus without\n                      <jats:italic>ARSE<\/jats:italic>\n                      deletion, the mean height was, respectively, 167.7\u00a0\u00b1\u00a04.5 and 173.1\u00a0\u00b1\u00a04.0\u00a0cm; this difference was not statistically significant (\n                      <jats:italic>p<\/jats:italic>\n                      =\u00a00.1005).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Although 46,XX\n                      <jats:italic>SRY<\/jats:italic>\n                      \u2010positive male syndromes were mainly because of imbalanced crossover between the X and Y chromosome during meiosis, the breakpoints differed markedly from one patient to another (especially on the X chromosome); this suggests the presence of a replication\u2010based mechanism for recombination between non\u2010homologous sequences. In some patients, the translocation of\n                      <jats:italic>SRY<\/jats:italic>\n                      to the X chromosome was associated with\n                      <jats:italic>ARSE<\/jats:italic>\n                      gene deletion, which might have led to short stature. With a view to explaining this disorder of sex development, whole exome sequencing could be suggested for\n                      <jats:italic>SRY<\/jats:italic>\n                      \u2010negative patients.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/andr.13279","type":"journal-article","created":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T15:13:44Z","timestamp":1661526824000},"page":"1625-1631","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Evidence for high breakpoint variability in 46, XX, SRY\u2010positive testicular disorder and frequent ARSE deletion that may be associated with short stature"],"prefix":"10.1111","volume":"10","author":[{"given":"C\u00e9line","family":"Capron","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique CHI de Poissy St Germain en Laye Poissy 78300 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