Cushing’s disease in a patient with steroid 21-hydroxylase deficiency

Endocrine Journal

Dieter K. Lüdecke²  Sven Schinner⁵  Matthias Haase⁵  Matthias Schott⁵  Reimar Fritzen⁴  Elke Kaminsky³  Holger S. Willenberg⁵  Werner A. Scherbaum⁵  Wolfgang Saeger¹ 

[1] Institute of Pathology of the Marienkrankenhaus Hamburg, 22087, Hamburg, Germany;Department of Neurosurgery, Section of Pituitary Surgery, University Clinic of Hamburg, 20246 Hamburg, Germany;Praxis für Humangenetik, 22339 Hamburg, Germany;Endokrinologische Gemeinschaftspraxis am Aachener Platz, 40223, Duesseldorf, Germany;Department of Endocrinology, Diabetes and Rheumatology, University Hospital Duesseldorf, Duesseldorf, Germany

关键词: Congenital adrenal hyperplasia;    Adrenal insufficiency;    Hypercortisolism;    Glucocorticoid;    Pituitary;   

DOI  :  10.1507/endocrj.K11E-097

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(34)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.

【 授权许可】

Unknown