Journalartikel

Jahr der Veröffentlichung: 2005

Seiten: 4362-4365

Zeitschrift: The Journal of Clinical Endocrinology & Metabolism

Bandnummer: 90

Heftnummer: 7

ISSN: 0021-972X

eISSN: 1945-7197

Open Access Status: Bronze

DOI Link: https://doi.org/10.1210/jc.2005-0136

Verlag: Oxford University Press

Abstract: 

Context: 17 alpha-Hydroxylase/17,20-lyase deficiency, a rare autosomal recessive form of congenital adrenal hyperplasia, is caused by mutations in the cytochrome P450c17 (CYP17) gene. We report on a case of complete 17 alpha-hydroxylase/17,20-lyase deficiency due to a novel homozygous mutation of CYP17.

Design: A 20-yr-old female Turkish patient (46, XX) presented with primary amenorrhea, sexual infantilism, and easy fatigability.

Results: The patient's steroid metabolism showed increased levels of mineralocorticoid precursors and low or undetectable plasma concentrations of 17 alpha-hydroxycorticoids, androgens, and estrogens before and after ACTH stimulation. The gas chromatography-mass spectrometry urinary steroid profile was dominated by metabolites of corticosterone and its precursors, while cortisol and C-19-steroid metabolites were lacking. ACTH, FSH, and LH levels were elevated. These hormonal findings were consistent with a combined and total 17 alpha-hydroxylase/17,20-lyase deficiency. A therapy with hydrocortisone and a cyclic estrogen/gestagen substitution was initiated.

Conclusion: The CYP17 gene analysis revealed homozygosity of the mutation Y27Stop (TAC3TAA) in exon 1, a mutation that has not been previously described. This novel mutation leads to a stop codon causing a total loss of 17 alpha-hydroxlyase/17,20-lyase activity, as reflected biochemically by the detected concentrations of the steroid metabolites.

Harvard-Zitierstil: Müssig, K., Kaltenbach, S., Machicao, F., Maser-Gluth, C., Hartmann, M., Wudy, S., et al. (2005) 17α-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene, The Journal of Clinical Endocrinology & Metabolism, 90(7), pp. 4362-4365. https://doi.org/10.1210/jc.2005-0136

APA-Zitierstil: Müssig, K., Kaltenbach, S., Machicao, F., Maser-Gluth, C., Hartmann, M., Wudy, S., Schnauder, G., Häring, H., Seif, F., & Gallwitz, B. (2005). 17α-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene. The Journal of Clinical Endocrinology & Metabolism. 90(7), 4362-4365. https://doi.org/10.1210/jc.2005-0136