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

F. Helmerhorst; G. Oei; J. Derksen; J. Weusten; E. Lentjes

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 journal › Article › Academic › peer-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 language	English
Pages (from-to)	8-13
Number of pages	6
Journal	Tijdschrift voor fertiliteitsonderzoek
Volume	10
Issue number	2
Publication status	Published - 1 Dec 1996

Cite this

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title = "From pheno- to genotype: Steroid-converting enzyme deficiency in a patient",

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.",

author = "F. Helmerhorst and G. Oei and J. Derksen and J. Weusten and E. Lentjes",

year = "1996",

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language = "English",

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}

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 - https://www.scopus.com/pages/publications/0030316627

M3 - Article

AN - SCOPUS:0030316627

SN - 0921-7304

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EP - 13

JO - Tijdschrift voor fertiliteitsonderzoek

JF - Tijdschrift voor fertiliteitsonderzoek

IS - 2

ER -

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

Abstract

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