{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T23:24:23Z","timestamp":1751412263145,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T00:00:00Z","timestamp":1578960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["IJU Case Reports"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,<jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content> patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal hyperplasia and investigated the testes of this patient in detail.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 15\u2010day\u2010old 46,<jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content> neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2\u00a0years and 5\u00a0months, she underwent bilateral gonadectomy. Leydig cells were observed both with and without lipid droplets in the testes of this patient. We also demonstrated immunohistochemically that some testosterone\u2010synthesizing enzymes were maintained in this patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results indicated transcription of testosterone\u2010synthesizing enzymes remained despite lipid accumulation in this patient. The pattern of expression of testosterone\u2010synthesizing enzymes suggested fetal Leydig cells may have remained after birth in the testes of this patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/iju5.12142","type":"journal-article","created":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T10:10:56Z","timestamp":1578996656000},"page":"53-56","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells"],"prefix":"10.1002","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0731-4577","authenticated-orcid":false,"given":"Kanako","family":"Matsuoka","sequence":"first","affiliation":[{"name":"Department of Urology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichi","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Urology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Hoshi","sequence":"additional","affiliation":[{"name":"Department of Urology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoyuki","family":"Koguchi","sequence":"additional","affiliation":[{"name":"Department of Urology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6002-7879","authenticated-orcid":false,"given":"Soichiro","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Urology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiro","family":"Haga","sequence":"additional","affiliation":[{"name":"Department of Urology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyuki","family":"Kojima","sequence":"additional","affiliation":[{"name":"Department of Urology Fukushima Medical University School of Medicine Fukushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.63.1.193"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2017.00023"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7892608"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/mend.14.9.0515"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.K08E-102"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000185446"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2865"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030345"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2012-1256"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2015-1200"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2011-1407"},{"key":"e_1_2_8_13_1","first-page":"409","article-title":"Germinal cell tumors of the testis in cryptorchids","volume":"17","author":"Berkmen F","year":"1998","journal-title":"J. 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