A case of 16-ene-synthetase deficiency in male pseudohermaphroditism due to combined 17α-hydroxylase/17,20-lyase deficiency

S. G. Oei; J. Derksen; J. J.A.M. Weusten; E. G.W.M. Lentjes; F. M. Helmerhorst

doi:10.1530/eje.0.1320281

A case of 16-ene-synthetase deficiency in male pseudohermaphroditism due to combined 17α-hydroxylase/17,20-lyase deficiency

S. G. Oei
, J. Derksen
, J. J.A.M. Weusten
, E. G.W.M. Lentjes
, F. M. Helmerhorst^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

5 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	281-285
Number of pages	5
Journal	European Journal of Endocrinology
Volume	132
Issue number	3
DOIs	https://doi.org/10.1530/eje.0.1320281
Publication status	Published - 1 Jan 1995

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title = "A case of 16-ene-synthetase deficiency in male pseudohermaphroditism due to combined 17α-hydroxylase/17,20-lyase deficiency",

abstract = "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.",

author = "Oei, \{S. G.\} and J. Derksen and Weusten, \{J. J.A.M.\} and Lentjes, \{E. G.W.M.\} and Helmerhorst, \{F. M.\}",

year = "1995",

month = jan,

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doi = "10.1530/eje.0.1320281",

language = "English",

volume = "132",

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journal = "European Journal of Endocrinology",

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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

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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 - https://www.scopus.com/pages/publications/0028920391

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DO - 10.1530/eje.0.1320281

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VL - 132

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JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

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ER -

A case of 16-ene-synthetase deficiency in male pseudohermaphroditism due to combined 17α-hydroxylase/17,20-lyase deficiency

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