From pheno- to genotype: Steroid-converting enzyme deficiency in a patient

F. Helmerhorst*, G. Oei, J. Derksen, J. Weusten, E. Lentjes

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    Abstract

    Case: A 17-year-old phenotypic female with primary hypergonadotropic amenorrhoea, absence of secondary sexual development, hypertension, 46 XY karyotype is presented. Measurements: Hormonal analysis revealed very low levels of testosterone, dehydroepiandrosterone, androstenedione, oestrogens, cortisol and high levels of ACTH, progesterone, deoxycorticosterone and corticosterone. Results: Enzyme studies of the testicular tissue after bilateral gonadectomy showed absence of 17α-hydroxylase and 17,20-1yase activity as well as 16-ene-synthetase activity. The other enzyme systems leading from pregnenolone to testosterone were intact. Conclusion: This is the first report of male pseudohermaphroditism in which the combination of 17α-hydroxylase, 17,20-lyase and 16-ene-synthetase deficiency is described, indicating that all these activities might be associated with the same protein.

    Original languageEnglish
    Pages (from-to)8-13
    Number of pages6
    JournalTijdschrift voor fertiliteitsonderzoek
    Volume10
    Issue number2
    Publication statusPublished - 1 Dec 1996

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