Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female

Research output: Contribution to journalJournal article

Standard

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. / Müller, Jørn; Schwartz, M; Skakkebaek, N E.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 75, No. 1, 01.07.1992, p. 331-3.

Research output: Contribution to journalJournal article

Harvard

Müller, J, Schwartz, M & Skakkebaek, NE 1992, 'Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female', Journal of Clinical Endocrinology and Metabolism, vol. 75, no. 1, pp. 331-3.

APA

Müller, J., Schwartz, M., & Skakkebaek, N. E. (1992). Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. Journal of Clinical Endocrinology and Metabolism, 75(1), 331-3.

Vancouver

Müller J, Schwartz M, Skakkebaek NE. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. Journal of Clinical Endocrinology and Metabolism. 1992 Jul 1;75(1):331-3.

Author

Müller, Jørn ; Schwartz, M ; Skakkebaek, N E. / Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. In: Journal of Clinical Endocrinology and Metabolism. 1992 ; Vol. 75, No. 1. pp. 331-3.

Bibtex

@article{81f82f5651014e69ad87fc55045c0459,
title = "Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female",
abstract = "The first and essential step in normal sexual differentiation takes place during the 5th-6th week of gestation. The testis determining factor (TDF) directs the undifferentiated gonad into a testis, which secretes hormones responsible for normal male development. A new candidate for TDF has recently been reported, and it has been called the sex determining region of the Y (SRY). The hypothesis has been supported by the finding of XX individuals with SRY, and two females with 46,XY karyotype and a mutation in SRY. However, XX males without SRY has been reported, and the role of SRY still has to be determined. We have tested three human females with 46,XY karyotype and gonadal dysgenesis and two 46,XX males for the presence of SRY using the polymerase chain reaction and subsequent DNA sequencing. Both 46,XX males contained SRY, whereas one of the 46,XY females had suffered a point mutation in SRY changing a codon for lysine to a stop codon. This information supports the hypothesis that SRY is significant in normal male sex differentiation. The two remaining 46,XY individuals had an intact HMG box, but it is possible that a mutation may be found in a regulatory gene or further downstream in the gene regulatory cascade. Two patients including the one with a mutation in SRY had gonadoblastomas supporting the hypothesis that another gene on the Y-chromosome is involved in the pathogenesis of this neoplasia.",
author = "J{\o}rn M{\"u}ller and M Schwartz and Skakkebaek, {N E}",
year = "1992",
month = jul,
day = "1",
language = "English",
volume = "75",
pages = "331--3",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "Oxford University Press",
number = "1",

}

RIS

TY - JOUR

T1 - Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female

AU - Müller, Jørn

AU - Schwartz, M

AU - Skakkebaek, N E

PY - 1992/7/1

Y1 - 1992/7/1

N2 - The first and essential step in normal sexual differentiation takes place during the 5th-6th week of gestation. The testis determining factor (TDF) directs the undifferentiated gonad into a testis, which secretes hormones responsible for normal male development. A new candidate for TDF has recently been reported, and it has been called the sex determining region of the Y (SRY). The hypothesis has been supported by the finding of XX individuals with SRY, and two females with 46,XY karyotype and a mutation in SRY. However, XX males without SRY has been reported, and the role of SRY still has to be determined. We have tested three human females with 46,XY karyotype and gonadal dysgenesis and two 46,XX males for the presence of SRY using the polymerase chain reaction and subsequent DNA sequencing. Both 46,XX males contained SRY, whereas one of the 46,XY females had suffered a point mutation in SRY changing a codon for lysine to a stop codon. This information supports the hypothesis that SRY is significant in normal male sex differentiation. The two remaining 46,XY individuals had an intact HMG box, but it is possible that a mutation may be found in a regulatory gene or further downstream in the gene regulatory cascade. Two patients including the one with a mutation in SRY had gonadoblastomas supporting the hypothesis that another gene on the Y-chromosome is involved in the pathogenesis of this neoplasia.

AB - The first and essential step in normal sexual differentiation takes place during the 5th-6th week of gestation. The testis determining factor (TDF) directs the undifferentiated gonad into a testis, which secretes hormones responsible for normal male development. A new candidate for TDF has recently been reported, and it has been called the sex determining region of the Y (SRY). The hypothesis has been supported by the finding of XX individuals with SRY, and two females with 46,XY karyotype and a mutation in SRY. However, XX males without SRY has been reported, and the role of SRY still has to be determined. We have tested three human females with 46,XY karyotype and gonadal dysgenesis and two 46,XX males for the presence of SRY using the polymerase chain reaction and subsequent DNA sequencing. Both 46,XX males contained SRY, whereas one of the 46,XY females had suffered a point mutation in SRY changing a codon for lysine to a stop codon. This information supports the hypothesis that SRY is significant in normal male sex differentiation. The two remaining 46,XY individuals had an intact HMG box, but it is possible that a mutation may be found in a regulatory gene or further downstream in the gene regulatory cascade. Two patients including the one with a mutation in SRY had gonadoblastomas supporting the hypothesis that another gene on the Y-chromosome is involved in the pathogenesis of this neoplasia.

M3 - Journal article

VL - 75

SP - 331

EP - 333

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 1

ER -

ID: 34143749