TY - JOUR
T1 - From pheno- to genotype
T2 - Steroid-converting enzyme deficiency in a patient
AU - Helmerhorst, F.
AU - Oei, G.
AU - Derksen, J.
AU - Weusten, J.
AU - Lentjes, E.
PY - 1996/12/1
Y1 - 1996/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0030316627&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:0030316627
SN - 0921-7304
VL - 10
SP - 8
EP - 13
JO - Tijdschrift voor fertiliteitsonderzoek
JF - Tijdschrift voor fertiliteitsonderzoek
IS - 2
ER -