{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:06:17Z","timestamp":1792073177101,"version":"4.4.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T00:00:00Z","timestamp":1764633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T00:00:00Z","timestamp":1764633600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["016196310"],"award-info":[{"award-number":["016196310"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    X\u2010linked adrenoleukodystrophy (ALD) is a genetic disorder with neurological and endocrine manifestations, including myelopathy and hypergonadotropic hypogonadism. Many patients experience sexual dysfunction but the underlying cause has not been clarified. The aim of this study was to assess the prevalence of sexual dysfunction and its relationship with biochemical hypergonadotropic hypogonadism (i.e., low testosterone and high luteinizing hormone [LH] levels) and\/or myelopathy. Male ALD patients from \u201cthe Dutch ALD cohort\u201d at the Amsterdam University Medical Centers were questioned regarding sexual functioning, and underwent neurological examination to assess myelopathy. Testosterone, LH, and follicle\u2010stimulating hormone (FSH) concentrations were analyzed from fasting blood samples. The prevalence of biochemical hypogonadism in the cohort was 4\/36 patients (11%), of whom 3 were diagnosed prior to the initiation of this study. Eighteen out of 33 patients (55%), of whom clinical data were collected, experienced sexual dysfunction. Of these patients, 10 (55%) were biochemically eugonadal, 7 (39%) had biochemical subclinical hypogonadism, and 1 had biochemical hypogonadism. Neurological function differed significantly between patients with and without sexual dysfunction, with more severe myelopathy in patients with sexual dysfunction (Expanded Disability Status Scale: 4.8 [IQR 3\u20136] vs. 0.0 [IQR 0\u20132];\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001). In conclusion, we showed that half of all adult male ALD patients experienced sexual dysfunction and the majority of these patients had normal testosterone levels. Neurological impairment appears to play a more important role in these complaints than previously appreciated. We recommend discussing sexual dysfunction regularly, in order to start early and adequate treatment.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70121","type":"journal-article","created":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T02:08:08Z","timestamp":1764727688000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X\u2010Linked Adrenoleukodystrophy"],"prefix":"10.1002","volume":"49","author":[{"given":"Stephanie I. W.","family":"van de Stadt","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Emma Children's Hospital, Amsterdam University Medical Centers  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9486-8316","authenticated-orcid":false,"given":"Aimy M. A.","family":"Wessel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Emma Children's Hospital, Amsterdam University Medical Centers  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9934-6831","authenticated-orcid":false,"given":"Mirjam","family":"Langeveld","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Amsterdam UMC Research Institute Gastroenterology, Endocrinology and Metabolism (AGEM), University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5346-8497","authenticated-orcid":false,"given":"Marc","family":"Engelen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Emma Children's Hospital, Amsterdam University Medical Centers  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Sjouke","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Amsterdam UMC Research Institute Gastroenterology, Endocrinology and Metabolism (AGEM), University of Amsterdam  Amsterdam the Netherlands"},{"name":"Department of Internal Medicine Radboud University Medical Centre  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,2]]},"reference":[{"key":"e_1_2_10_2_1","first-page":"3257","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Moser H. W.","year":"2002"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.10.001"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.27.12.1114"},{"issue":"3","key":"e_1_2_10_5_1","first-page":"481","article-title":"Adreno\u2010Leukodystrophy (Sex\u2010Linked Schilder's Disease). A Pathogenetic Hypothesis Based on Ultrastructural Lesions in Adrenal Cortex, Peripheral Nerve and Testis","volume":"76","author":"Powers J. M.","year":"1974","journal-title":"American Journal of Pathology"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-51"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531\u20108249(20010201)49:2<186::AID\u2010ANA38>3.0.CO;2\u2010R"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy299"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010019\u20101008\u20106"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018\u201001307"},{"issue":"1","key":"e_1_2_10_11_1","first-page":"90","article-title":"The Testis in Adreno\u2010Leukodystrophy","volume":"102","author":"Powers J. M.","year":"1981","journal-title":"American Journal of Pathology"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102605.1997.00066.x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1370034"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sxmr.2019.06.003"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ucl.2005.08.007"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1743\u20106109.2009.01621.x"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/jsm.12207"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2004.10.029"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinternmed.2007.2"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamainternmed.2016.9539"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ijir.2008.28"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD013071.pub2"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201011\u20100490"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.11.1444"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0100\u2010879X2012007500072"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/sxmrev\/qead058"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.2878"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016\u20102935"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/andr.12770"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.044503"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1159\/00018053331"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8529(18)30270-6"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.13152"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742\u20101241.2010.02355.x"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1080\/13685530701483738"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007\u20101245"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0911101"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70121","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.70121","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.70121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:44:55Z","timestamp":1781743495000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.70121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,2]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/jimd.70121"],"URL":"https:\/\/doi.org\/10.1002\/jimd.70121","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,2]]},"assertion":[{"value":"2025-06-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70121"}}