Endocrine Abstracts (2006) 11 P52

Infertility and bilateral testicular masses due to 21-hydroxylase deficiency

K Müssig1, S Kaltenbach1, C Maser-Gluth2, MF Hartmann3, SA Wudy3, M Horger4, B Gallwitz1, F Raue5, H-U Häring1 & E Schulze5

1Department of Endocrinology, Metabolism and Pathobiochemistry, University Hospital of Internal Medicine, University of Tübingen, Tübingen, Germany; 2Steroid Laboratory, Department of Pharmacology, University of Heidelberg, Heidelberg, Germany; 3Steroid Research Unit, Center of Child and Adolescent Medicine, Justus Liebig University of Giessen, Giessen, Germany; 4Department of Diagnostic Radiology, University Hospital of Tübingen, Tübingen, Germany; 5Molecular Genetic Laboratory, Endocrine Practice, Heidelberg, Heidelberg, Germany.

Objective: 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.

Case report: A 39-year-old male patient presented for workup of infertility. Urologic investigation revealed small testes, bilateral testicular masses, and asthenozoospermia. 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.

Conclusion: Cases of 21-hydroxylase deficiency diagnosed in late adulthood are rare; however, clinicians should be alert of this possibility in patients presenting with infertility or unclear testicular masses.

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