TY - JOUR
T1 - A case of 16-ene-synthetase deficiency in male pseudohermaphroditism due to combined 17α-hydroxylase/17,20-lyase deficiency
AU - Oei, S. G.
AU - Derksen, J.
AU - Weusten, J. J.A.M.
AU - Lentjes, E. G.W.M.
AU - Helmerhorst, F. M.
PY - 1995/1/1
Y1 - 1995/1/1
N2 - A 17-year-old phenotypic female with primary hypergonadotropic amenorrhea, absence of secondary sexual development, hypertension and 46 XY karyotype is presented. Hormonal analysis revealed very low levels of testosterone, dehydroepiandrosterone, androstenedione, estrogens, cortisol and high levels of ACTH, progesterone, deoxycorticosterone and corticosterone. Enzyme studies of the testicular tissue after bilateral gonadectomy showed absence of 17α-hydroxylase and 17,20-lyase activity as well as 16-ene-synthetase activity. This enzyme catalyzes the reaction from pregnenolone to 5,16-androstadien-3β-ol, a sex pheromone precursor. The other enzyme systems leading from pregnenolone to testosterone were intact. 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 - A 17-year-old phenotypic female with primary hypergonadotropic amenorrhea, absence of secondary sexual development, hypertension and 46 XY karyotype is presented. Hormonal analysis revealed very low levels of testosterone, dehydroepiandrosterone, androstenedione, estrogens, cortisol and high levels of ACTH, progesterone, deoxycorticosterone and corticosterone. Enzyme studies of the testicular tissue after bilateral gonadectomy showed absence of 17α-hydroxylase and 17,20-lyase activity as well as 16-ene-synthetase activity. This enzyme catalyzes the reaction from pregnenolone to 5,16-androstadien-3β-ol, a sex pheromone precursor. The other enzyme systems leading from pregnenolone to testosterone were intact. 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=0028920391&partnerID=8YFLogxK
U2 - 10.1530/eje.0.1320281
DO - 10.1530/eje.0.1320281
M3 - Article
C2 - 7889174
AN - SCOPUS:0028920391
SN - 0804-4643
VL - 132
SP - 281
EP - 285
JO - European Journal of Endocrinology
JF - European Journal of Endocrinology
IS - 3
ER -