{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T07:07:59Z","timestamp":1751958479993,"version":"3.40.5"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0268_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Many other multisystemic associations have been described including menstrual irregularities in female and hypogonadism in male patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0268_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We present a first case of WFS associated with hypergonadotropic hypogonadism in a female adolescent diagnosed with WFS both clinically and genetically. Other causes of premature ovarian insufficiency (POI) have been excluded.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0268_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case report shows the importance of gonadal function assessment and follow-up in time for both genders.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0268","type":"journal-article","created":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T01:45:30Z","timestamp":1663119930000},"page":"1552-1555","source":"Crossref","is-referenced-by-count":4,"title":["Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism\u00a0\u2013 A case report"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6144-4156","authenticated-orcid":false,"given":"Andr\u00e9anne","family":"Jodoin","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department , Necker Hospital , Paris , France"},{"name":"Obstetrics and Gynecology Department , University of Montreal , Montreal , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maud","family":"Marchand","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department , Necker Hospital , Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Beltrand","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Gynecology and Diabetology Department , Necker Hospital , Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,9,15]]},"reference":[{"key":"2023040100361107069_j_jpem-2022-0268_ref_001","doi-asserted-by":"crossref","unstructured":"Rigoli, L, Bramanti, P, Di Bella, C, De Luca, F. Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. Pediatr Res 2018;83:921\u20139. https:\/\/doi.org\/10.1038\/pr.2018.17.","DOI":"10.1038\/pr.2018.17"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_002","doi-asserted-by":"crossref","unstructured":"Rigoli, L, Aloi, C, Salina, A, Di Bella, C, Salzano, G, Caruso, R, et al.. Wolfram syndrome 1 in the Italian population: genotype\u2013phenotype correlations. Pediatr Res 2020;87:456\u201362. https:\/\/doi.org\/10.1038\/s41390-019-0487-4.","DOI":"10.1038\/s41390-019-0487-4"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_003","doi-asserted-by":"crossref","unstructured":"Urano, F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diabetes Rep 2016;16:1\u20138. https:\/\/doi.org\/10.1007\/s11892-015-0702-6.","DOI":"10.1007\/s11892-015-0702-6"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_004","doi-asserted-by":"crossref","unstructured":"Das, L, Rai, A, Mavuduru, R, Vaiphei, K, Sharma, A, Gupta, V, et al.. Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure. Endocrine 2020;69:420\u20139. https:\/\/doi.org\/10.1007\/s12020-020-02320-6.","DOI":"10.1007\/s12020-020-02320-6"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_005","doi-asserted-by":"crossref","unstructured":"Homan, MR, MacKay, BR. Primary hypogonadism in two siblings with Wolfram syndrome. Diabetes Care 1987;10:664\u20135. https:\/\/doi.org\/10.2337\/diacare.10.5.664.","DOI":"10.2337\/diacare.10.5.664"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_006","doi-asserted-by":"crossref","unstructured":"Noormets, K, K\u00f5ks, S, Kavak, A, Arend, A, Aunapuu, M, Keldrimaa, A, et al.. Male mice with deleted wolframin (Wfs1) gene have reduced fertility. Reprod Biol Endocrinol 2009;7:1\u20138. https:\/\/doi.org\/10.1186\/1477-7827-7-82.","DOI":"10.1186\/1477-7827-7-82"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_007","doi-asserted-by":"crossref","unstructured":"Barrett, T, Bundey, SE, Macleod, AF. Neurodegeneration and diabetes: UK nationwide study of wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458\u201363. https:\/\/doi.org\/10.1016\/s0140-6736(95)92473-6.","DOI":"10.1016\/S0140-6736(95)92473-6"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_008","doi-asserted-by":"crossref","unstructured":"Simsek, E, Simsek, T, Tekg\u00fcl, S, Hosal, S, Seyrantepe, V, Aktan, G. Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. Acta Paediatr Int J Paediatr 2003;92:55\u201361. https:\/\/doi.org\/10.1111\/j.1651-2227.2003.tb00469.x.","DOI":"10.1111\/j.1651-2227.2003.tb00469.x"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_009","doi-asserted-by":"crossref","unstructured":"Medlej, R, Wasson, J, Baz, P, Azar, S, Salti, I, Loiselet, J, et al.. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab 2004;89:1656\u201361. https:\/\/doi.org\/10.1210\/jc.2002-030015.","DOI":"10.1210\/jc.2002-030015"},{"key":"2023040100361107069_j_jpem-2022-0268_ref_010","doi-asserted-by":"crossref","unstructured":"De Heredia, ML, Cl\u00e8ries, R, Nunes, V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genet Med 2013;15:497\u2013506. https:\/\/doi.org\/10.1038\/gim.2012.180.","DOI":"10.1038\/gim.2012.180"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0268\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0268\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T15:49:25Z","timestamp":1680364165000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0268\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,15]]},"references-count":10,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,11,30]]},"published-print":{"date-parts":[[2022,12,16]]}},"alternative-id":["10.1515\/jpem-2022-0268"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0268","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2022,9,15]]}}}