{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:41Z","timestamp":1784557061204,"version":"3.55.0"},"reference-count":30,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T00:00:00Z","timestamp":1556841600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,5,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Steroid hormones are essential for the survival of all mammals. In adrenal glands and gonads, cytochrome P450 side chain cleavage enzyme (SCC or CYP11A1), catalyzes conversion of cholesterol to pregnenolone. We studied a patient with ambiguous genitalia by the absence of M\u00fcllerian ducts and the presence of an incompletely formed vagina, who had extremely high adrenocorticotropic hormone (ACTH) and reduced pregnenolone levels with enlarged adrenal glands. The testes revealed seminiferous tubules, stroma, rete testis with interstitial fibrosis and reduced number of germ cells. Electron microscopy showed that the patient\u2019s testicular mitochondrial size was small with little SCC expression within the mitochondria. The mitochondria were not close to the mitochondria-associated ER membrane (MAM), and cells were filled with the microfilaments. Our result revealed that absence of pregnenolone is associated with organelle stress, leading to altered protein organization that likely created steric hindrance in testicular cells.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Testes revealed seminiferous tubules, stroma, rete testis with interstitial fibrosis and reduced number of germ cells;<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Testicular mitochondrial size was small with little SCC expression within the mitochondria;<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Absence of pregnenolone is associated with organelle stress.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-19-0009","type":"journal-article","created":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T07:05:37Z","timestamp":1556867137000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Deficient pregnenolone synthesis associated with congenital adrenal hyperplasia and organelle dysfunction"],"prefix":"10.1530","volume":"2019","author":[{"given":"Himangshu S","family":"Bose","sequence":"first","affiliation":[{"name":"1Laboratory of Biochemistry, Biomedical Sciences, Mercer University School of Medicine, Savannah, Georgia, USA"},{"name":"2Memorial University Medical Center, Savannah, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan M","family":"Rice","sequence":"additional","affiliation":[{"name":"1Laboratory of Biochemistry, Biomedical Sciences, Mercer University School of Medicine, Savannah, Georgia, USA"},{"name":"3Pediatric Endocrinology and Diabetes Center, Kalispell Regional Medical Center, Kalispell, Montana, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Marshall","sequence":"additional","affiliation":[{"name":"4Anatomy and Pathology, Augusta State University, Augusta, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadi","family":"Gebrail","sequence":"additional","affiliation":[{"name":"1Laboratory of Biochemistry, Biomedical Sciences, Mercer University School of Medicine, Savannah, Georgia, USA"},{"name":"5Laboratory of Pathology, Memorial University Medical Center, Savannah, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Kupshik","sequence":"additional","affiliation":[{"name":"1Laboratory of Biochemistry, Biomedical Sciences, Mercer University School of Medicine, Savannah, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth W","family":"Perry","sequence":"additional","affiliation":[{"name":"4Anatomy and Pathology, Augusta State University, Augusta, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref251","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1097\/PAF.0000000000000401","article-title":"A new reference source for postmortem body measurements and organ weights in neonates and infants: A statistical analysis based on sudden death classification (Part 2)","volume":"39","year":"2018","journal-title":"American Journal of Forensic Medicine and Pathology"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"2754","DOI":"10.1016\/S0021-9258(18)67893-7","article-title":"Protein synthesis and adrenocorticotropin responsiveness","volume":"238","year":"1963","journal-title":"Journal of Biological Chemistry"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"3281","DOI":"10.1210\/endo.142.8.8406","article-title":"Miniriview: sex differentiation","volume":"142","year":"2001","journal-title":"Endocrinology"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"5153","DOI":"10.1016\/S0021-9258(18)92004-1","article-title":"On the mechanism of action of adrenocorticotropic hormone. 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