Abstract:
:Cushing's disease rarely appears as a consequence of hereditary disease. However, familial diseases with diminished glucocorticoid feedback are associated with secondary hypercorticotropinism and have been shown to give rise to pituitary adenomas. We here describe the rare case of a 30-year old female patient with congenital adrenal hyperplasia who also showed clinical signs and a typical history of hypercortisolism that was specified as Cushing's disease. After removal of a pituitary microadenoma, serum-cortisol levels fell below normal and the symptoms improved. However, after four years the menstrual cycle was irregular again and ACTH levels were in the upper range of normal. A corticotropin challenge showed a minor cortisol response but a marked increase in 17-hydroxyprogesterone serum concentrations. Genetic analysis revealed a homozygous mutation in exon 7 of the CYP21A2 gene (CTG>TTG, p.V281L). We conclude that a marked ACTH drive was able to override insufficient 21-hydroxylation and even to cause hypercortisolism. Although we describe a rare case, the impairment of the glucocorticoid feedback system in the context of congenital adrenal hyperplasia and other diseases may contribute to the development of secondary hypercorticotropinism as well as corticotropin producing adenomas.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Haase M,Schott M,Kaminsky E,Lüdecke DK,Saeger W,Fritzen R,Schinner S,Scherbaum WA,Willenberg HSdoi
10.1507/endocrj.k11e-097subject
Has Abstractpub_date
2011-01-01 00:00:00pages
699-706issue
8eissn
0918-8959issn
1348-4540pii
JST.JSTAGE/endocrj/K11E-097journal_volume
58pub_type
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