{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T23:21:46Z","timestamp":1772580106385,"version":"3.50.1"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0229_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty. Aromatase deficiency is not attributed to any specific population, but it is more commonly seen in consanguineous parents. Herein, we report the first Old Order Mennonite family with that diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0229_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Our proband is an Old Order Mennonite female born with ambiguous genitalia who was identified to carry novel homozygous variant in the <jats:italic>CYP19A1<\/jats:italic> gene c.1304G&gt;A (p. Arg435His). Her older brother was later confirmed with the same genetic diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0229_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Recognizing the cultural sensitivity, unrecognized affected cases, and late presentation of males affected with aromatase deficiency, this condition may be more prevalent than believed in that population.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0229","type":"journal-article","created":{"date-parts":[[2021,8,4]],"date-time":"2021-08-04T22:04:19Z","timestamp":1628114659000},"page":"1615-1618","source":"Crossref","is-referenced-by-count":2,"title":["Aromatase deficiency in an Ontario Old Order Mennonite family"],"prefix":"10.1515","volume":"34","author":[{"given":"Sun Young","family":"Kim","sequence":"first","affiliation":[{"name":"Schulich School of Medicine, University of Western Ontario , London , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Colaiacovo","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine, University of Western Ontario , London , Canada"},{"name":"Division of Medical Genetics, Department of Pediatrics , London Health Sciences Centre , London , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumit","family":"Dave","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine, University of Western Ontario , London , Canada"},{"name":"Division of Urology, Department of Pediatrics , London Health Sciences Centre , London , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Coughlin","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine, University of Western Ontario , London , Canada"},{"name":"Division of Neonatal Medicine, Department of Pediatrics , London Health Sciences , London , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen","family":"Langdon","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine, University of Western Ontario , London , Canada"},{"name":"Division of Endocrinology, Department of Pediatrics , London Health Sciences Centre , London , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Stein","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine, University of Western Ontario , London , Canada"},{"name":"Division of Endocrinology, Department of Pediatrics , London Health Sciences Centre , London , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Saleh","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine, University of Western Ontario , London , Canada"},{"name":"Division of Medical Genetics, Department of Pediatrics , London Health Sciences Centre , London , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,8,5]]},"reference":[{"key":"2021120918514216940_j_jpem-2021-0229_ref_001","doi-asserted-by":"crossref","unstructured":"Praveen, VP, Ladjouze, A, Sauter, K-S, Pulickal, A, Katharopoulos, E, Trippel, M, et al.. Novel CYP19A1 mutations extend the genotype-phenotype correlation and reveal the impact on ovarian function. J Endocr Soc 2020;4:2\u20138, https:\/\/doi.org\/10.1210\/jendso\/bvaa030.","DOI":"10.1210\/jendso\/bvaa030"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_002","doi-asserted-by":"crossref","unstructured":"Shozu, M, Akasofu, K, Harada, T, Kubota, Y. A new cause of female pseudohermaphroditism. J Clin Endocrinol Metab 1991;46:473\u20136, https:\/\/doi.org\/10.1097\/00006254-199107000-00023.","DOI":"10.1097\/00006254-199107000-00023"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_003","doi-asserted-by":"crossref","unstructured":"Fan, L, Zhang, B, Li, L, Gong, C. Aromatase deficiency: a case series of 46, XX Chinese children and a systematic review of the literature. Clin Endocrinol 2020;93:687\u201395, https:\/\/doi.org\/10.1111\/cen.14277.","DOI":"10.1111\/cen.14277"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_004","doi-asserted-by":"crossref","unstructured":"Jones, ME, Boon, WC, Mcinnes, K, Maffei, L, Carani, C, Simpson, ER. Recognizing rare disorders: aromatase deficiency. Nat Clin Pract Endocrinol Metabol 2007;3:414\u201321, https:\/\/doi.org\/10.1038\/ncpendmet0477.","DOI":"10.1038\/ncpendmet0477"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_005","doi-asserted-by":"crossref","unstructured":"Bulun, SE. Aromatase and estrogen receptor \u03b1 deficiency. F S Rep 2014;101:323\u20139, https:\/\/doi.org\/10.1016\/j.fertnstert.2013.12.022.","DOI":"10.1016\/j.fertnstert.2013.12.022"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_006","doi-asserted-by":"crossref","unstructured":"Belgorosky, A, Guercio, G, Pepe, C, Saraco, N, Rivarola, M. Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. Horm Res Paediatr 2009;72:321\u201330, https:\/\/doi.org\/10.1159\/000249159.","DOI":"10.1159\/000249159"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_007","doi-asserted-by":"crossref","unstructured":"Rochira, V, Carani, C. Aromatase deficiency in men: a clinical perspective. Nat Rev Endocrinol 2009;5:559\u201368, https:\/\/doi.org\/10.1038\/nrendo.2009.176.","DOI":"10.1038\/nrendo.2009.176"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_008","doi-asserted-by":"crossref","unstructured":"Conte, FA, Grumbach, MM, Ito, Y, Fisher, CR, Simpson, ER. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 1994;78:1287\u201392, https:\/\/doi.org\/10.1210\/jcem.78.6.8200927.","DOI":"10.1210\/jcem.78.6.8200927"},{"key":"2021120918514216940_j_jpem-2021-0229_ref_009","unstructured":"Bergey, LL. The early settlement of waterloo township, Ontario, Canada. Pa Mennon Herit 1992;15:9\u201320."},{"key":"2021120918514216940_j_jpem-2021-0229_ref_010","doi-asserted-by":"crossref","unstructured":"Janner, M, Fl\u00fcck, CE, Mullis, PE. Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency. Horm Res Paediatr 2012;78:261\u20138, https:\/\/doi.org\/10.1159\/000341585.","DOI":"10.1159\/000341585"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0229\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0229\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T19:10:43Z","timestamp":1639077043000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0229\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,5]]},"references-count":10,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2021,8,18]]},"published-print":{"date-parts":[[2021,12,20]]}},"alternative-id":["10.1515\/jpem-2021-0229"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0229","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,5]]}}}