{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T19:02:18Z","timestamp":1785265338083,"version":"3.55.0"},"reference-count":32,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T00:00:00Z","timestamp":1744243200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000735","name":"Cambridge University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome is not clearly defined.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate clinical features and pubertal outcome of PGD in a large cohort, using CGD as a comparator for diagnostic clarity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients with 46,XY GD were identified from the I-DSD Registry and data on phenotype, genetics, biochemistry, gonadal histology, and pubertal development were collated in 3 categories; CGD (n = 100), PGD assigned female (PGDf, n = 107), and male (PGDm, n = 103) at birth.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Most individuals with PGD presented with atypical genitalia in infancy, though, 18% of PGDf presented with delayed puberty and 8% with virilization. A genetic etiology was identified in 42% of the cohort, with common gene defects in SRY and WT1 in CGD and NR5A1 in PGD. Gonadal pre-\/malignancy was found in 33.8% in CGD, 19.7% in PGDf, and 8.8% in PGDm. Among the PGDm (&amp;gt;13 years) with at least 1 gonad, 80% had spontaneous pubertal onset and 59% achieved Tanner G5 without hormone treatment. Labioscrotal gonads at presentation and testosterone response to human chorionic gonadotropin predicted onset of spontaneous puberty. In PGDf with gonads, 42% developed spontaneous virilization at puberty. Sex was reassigned in 16.1% and 5.3% of individuals with PGDf and PGDm, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study highlights the heterogeneous phenotype of PGD and the consequent diagnostic challenge. Many PGD patients with preserved gonads have the potential to develop puberty spontaneously, though further study is needed to determine the risk of developing gonadal tumors.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf223","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T09:35:59Z","timestamp":1744104959000},"page":"e4086-e4100","source":"Crossref","is-referenced-by-count":5,"title":["Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4012-7033","authenticated-orcid":false,"given":"Rieko","family":"Tadokoro-Cuccaro","sequence":"first","affiliation":[{"name":"Department of Paediatrics, University of Cambridge , Cambridge, CB2 0QQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ieuan A","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Cambridge , Cambridge, CB2 0QQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Cools","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Paediatrics, Ghent University , 9000 Ghent ,","place":["Belgium"]},{"name":"Department of Pediatric Endocrinology, Ghent University Hospital , 9000 Ghent ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"van de Vijver","sequence":"additional","affiliation":[{"name":"Department of Pathology, Ghent University , 9000 Ghent ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berenice","family":"Bilharinho de Mendon\u00e7a","sequence":"additional","affiliation":[{"name":"Endocrinology Division, Internal Medicine Department, Development Endocrinology Unit, Hormone and Molecular 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