{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:44:22Z","timestamp":1790793862569,"version":"4.1.0"},"reference-count":35,"publisher":"The Endocrine Society","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,11,1]]},"abstract":"<jats:p>We present an in vivo and in vitro study of congenital adrenal hyperplasia in a patient with 11\u03b2-hydroxylase deficiency. Sequencing of the CYP11B1 gene showed two new base substitutions, a conservative 954 G\u2192C transversion at the last base of exon 5 (T318T), and a IVS8 + 4A\u2192G transition in intron 8. In addition, two polymorphisms were found in exons 1 and 2. The genetically female patient was raised as a male because of severe pseudohermaphroditism. Glucocorticoid-suppressive treatment encountered difficulties in equilibration and compliance, resulting in uncontrolled hypertension with pronounced hypertrophic cardiomyopathy. At 42 yr of age the occurrence of central retinal vein occlusion with permanent loss of left eye vision led to the decision to perform bilateral laparoscopic adrenalectomy. Surgery was followed by normalization of blood pressure and good compliance with glucocorticoid and androgen substitutive therapies. In vitro, adrenal cells in culture and isolated mitochondria showed extremely low 11\u03b2-hydroxylase activity. Analysis of adrenal CYP11B1 messenger ribonucleic acid (mRNA) by RT-PCR and sequencing showed the expression of a shorter mRNA that lacked exon 8 and did not contain either the exon 5 mutation or the exon 1 and 2 polymorphisms. This suggested that one CYP11B1 allele carried the intron 8 mutation, responsible for skipping exon 8. The other allele carried the exon 5 mutation, and its mRNA was not detectable. Western blot analysis showed weak expression of a shorter CYP11B immunoreactive band of 43 kDa, consistent with truncation of exon 8. Thus, bilateral adrenalectomy in this patient allowed effective treatment of severe hypertension and helped in understanding the mechanisms and physiopathological consequences of two novel mutations of CYP11B1.<\/jats:p>","DOI":"10.1210\/jcem.85.11.6897","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:05:14Z","timestamp":1389200714000},"page":"4060-4068","source":"Crossref","is-referenced-by-count":36,"title":["Bilateral Laparoscopic Adrenalectomy for Congenital Adrenal Hyperplasia with Severe Hypertension, Resulting from Two Novel Mutations in Splice Donor Sites of CYP11B1"],"prefix":"10.1210","volume":"85","author":[{"given":"Olivier","family":"Chabre","sequence":"first","affiliation":[{"name":"Service d\u2019Endocrinologie (O.C., J.V.), 38043 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ste\u0301phanie","family":"Portrat-Doyen","sequence":"additional","affiliation":[{"name":"INSERM U-329, Ho\u0302pital Debrousse (S.P.-D., Y.M.), 69322 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Chaffanjon","sequence":"additional","affiliation":[{"name":"Chirurgie Ge\u0301ne\u0301rale et Thoracique (P.C.), 38043 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josiane","family":"Vivier","sequence":"additional","affiliation":[{"name":"Service d\u2019Endocrinologie (O.C., J.V.), 38043 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis","family":"Liakos","sequence":"additional","affiliation":[{"name":"INSERM U-244, Biochimie des Regulations Cellulaires Endocrines, De\u0301partement de Biologie Mole\u0301culaire et Structurale, Commissariat a\u0300 l\u2019Energie Atomique (P.L., E.C., G.D.), 38054 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franc\u0327oise","family":"Labat-Moleur","sequence":"additional","affiliation":[{"name":"Laboratoire de Pathologie Cellulaire (F.L.-M.), Centre Hospitalier Universitaire, 38043 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmond","family":"Chambaz","sequence":"additional","affiliation":[{"name":"INSERM U-244, Biochimie des Regulations Cellulaires Endocrines, De\u0301partement de Biologie Mole\u0301culaire et Structurale, Commissariat a\u0300 l\u2019Energie Atomique (P.L., E.C., G.D.), 38054 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Morel","sequence":"additional","affiliation":[{"name":"INSERM U-329, Ho\u0302pital Debrousse (S.P.-D., Y.M.), 69322 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevie\u0300ve","family":"Defaye","sequence":"additional","affiliation":[{"name":"INSERM U-244, Biochimie des Regulations Cellulaires Endocrines, De\u0301partement de Biologie Mole\u0301culaire et Structurale, Commissariat a\u0300 l\u2019Energie Atomique (P.L., E.C., G.D.), 38054 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071618332067000_R1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1159\/000179494","article-title":"Clinical variability of congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency.","volume":"16","author":"Rosler","year":"1982","journal-title":"Horm Res"},{"key":"2020071618332067000_R2","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1210\/jcem-56-2-222","article-title":"Clinical and biochemical variability of congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency. 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