Bilateral Laparoscopic Adrenalectomy for Congenital Adrenal Hyperplasia with Severe Hypertension, Resulting from Two Novel Mutations in Splice Donor Sites ofCYP11B1

Olivier Chabre, Stéphanie Portrat-Doyen, Philippe Chaffanjon, Josiane Vivier, Panagiotis Liakos, Françoise Labat-Moleur, Edmond Chambaz, Yves Morel, Geneviève Defaye
2000 Journal of Clinical Endocrinology and Metabolism  
We present an in vivo and in vitro study of congenital adrenal hyperplasia in a patient with 11␤-hydroxylase deficiency. Sequencing of the CYP11B1 gene showed two new base substitutions, a conservative 954 G3 C transversion at the last base of exon 5 (T318T), and a IVS8 ϩ 4A3 G 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
more » ... ered 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 ther-
doi:10.1210/jcem.85.11.6897 pmid:11095433 fatcat:hllwhtutsjat7jhpcyb4gjb6z4