Journalartikel

Jahr der Veröffentlichung: 2006

Seiten: 208-214

Zeitschrift: Experimental and Clinical Endocrinology & Diabetes

Bandnummer: 114

Heftnummer: 4

ISSN: 0947-7349

eISSN: 1439-3646

DOI Link: https://doi.org/10.1055/s-2006-924072

Verlag: Thieme Publishing

Abstract: 
Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a rare case of classic 21-hydroxylase deficiency diagnosed in late adulthood. A 39-year-old mate patient presented for workup of infertility. Urologic investigation revealed small testes, bilateral testicular masses, and astheno-zoospermia. The patient's steroid metabolism showed markedly increased levels of adrenal androgens, in particular of 17-hydroxyprogesterone and 21-deoxycortisol. The gas chromatographic-mass spectrometric (GC-MS) urinary steroid profile was dominated by metabolites of 17-hydroxyprogesterone, while the endogenous glucocorticoid production was subnormally low. ACTH levels in plasma were elevated. These hormonal findings were consistent with 21-hydroxylase deficiency. Therapy with dexamethasone was initiated. The CYP21A2 gene analysis revealed the mutation I172N (ATC -> AAC) in exon 4 of allele 1 and a large gene deletion in allele 2. Cases of 21-hydroxylase deficiency diagnosed in late adulthood are rare; however, clinicians should be alert of this possibility.

Harvard-Zitierstil: Muessig, K., Kaltenbach, S., Maser-Gluth, C., Hartmann, M., Wudy, S., Horger, M., et al. (2006) Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Experimental and Clinical Endocrinology & Diabetes, 114(4), pp. 208-214. https://doi.org/10.1055/s-2006-924072

APA-Zitierstil: Muessig, K., Kaltenbach, S., Maser-Gluth, C., Hartmann, M., Wudy, S., Horger, M., Gallwitz, B., Raue, F., Haering, H., & Schulze, E. (2006). Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Experimental and Clinical Endocrinology & Diabetes. 114(4), 208-214. https://doi.org/10.1055/s-2006-924072