Steroid Sulphatase Levels in XX Males, Including Observations on Two Affected Cousins

Overview

Journal Hum Genet

Specialty Genetics

Date 1981 Jan 1

PMID 10819031

Citations 3

Authors

P Pierella

I Craig

M Bobrow

A de la Chapelle

Affiliations

Soon will be listed here.

Abstract

Quantitative assays of steroid sulphatase in XX males have shown that some individuals have two functional loci, and others only one. Two affected cousins, who cannot share the same X-chromosome, nevertheless have male levels of steroid sulphatase, suggesting functional abnormality of the X chromosome. The hypothesis is advanced that these and other unusual features of X-chromosome function in some XX males, could be explained if such cases were due to an autosomal mutation, exercising its effect by causing abnormal inactivation of a subterminal area of Xp which normally escapes the inactivation process.

Citing Articles

Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor.

POLANI P Hum Genet. 1982; 60(3):207-11.

PMID: 7106750 DOI: 10.1007/BF00303003.

Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype.

Magenis R, Webb M, McKean R, Tomar D, Allen L, Kammer H Hum Genet. 1982; 62(3):271-6.

PMID: 6892019 DOI: 10.1007/BF00333535.

Steroid sulfatase gene in XX males.

Mohandas T, Stern H, Meeker C, Passage M, Muller U, Page D Am J Hum Genet. 1990; 46(2):369-76.

PMID: 2301402 PMC: 1684988.

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