Steroid 5α-reductase 2 deficiency

Virilization in early infancy may be due to partial function of mutant enzyme

G. Forti, A. Falchetti, S. Santoro, D. L. Davis, J. D. Wilson, D. W. Russell

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Male pseudohermaphroditism due to steroid 5α-reductase deficiency Is the consequence of mutations in the gene encoding the type 2 isoenzyme. Most (60%) affected subjects have homozygous mutations, and the remainder are compound heterozygotes or presumed compound heterozygotes. We report an Italian subject with phenotypic and endocrine features of 5α-reductase 2 deficiency who is homozygous for a substitution mutation (H231R). Although close consanguinity is not present, genealogical data demonstrated that the parents are distantly related, and both parents and the maternal grandmother are heterozygous carriers of the mutation. The fact that this particular mutation results in the formation of an enzyme with considerable residual activity may explain in part the significant degree of virilization that took place in this subject in early infancy. This same mutation (H231R) is present in heterozygous form in two other families, an African-American family and an American family of northern European descent.

Original languageEnglish (US)
Pages (from-to)477-482
Number of pages6
JournalClinical Endocrinology
Volume44
Issue number4
StatePublished - 1996

Fingerprint

Virilism
Oxidoreductases
Steroids
Mutation
Enzymes
Heterozygote
Parents
XY Disorders of Sex Development 46
Consanguinity
African Americans
Isoenzymes
Mothers
Genes

ASJC Scopus subject areas

  • Endocrinology

Cite this

Steroid 5α-reductase 2 deficiency : Virilization in early infancy may be due to partial function of mutant enzyme. / Forti, G.; Falchetti, A.; Santoro, S.; Davis, D. L.; Wilson, J. D.; Russell, D. W.

In: Clinical Endocrinology, Vol. 44, No. 4, 1996, p. 477-482.

Research output: Contribution to journalArticle

Forti, G. ; Falchetti, A. ; Santoro, S. ; Davis, D. L. ; Wilson, J. D. ; Russell, D. W. / Steroid 5α-reductase 2 deficiency : Virilization in early infancy may be due to partial function of mutant enzyme. In: Clinical Endocrinology. 1996 ; Vol. 44, No. 4. pp. 477-482.
@article{0027309668c046a1ba7e6d4932bb372c,
title = "Steroid 5α-reductase 2 deficiency: Virilization in early infancy may be due to partial function of mutant enzyme",
abstract = "Male pseudohermaphroditism due to steroid 5α-reductase deficiency Is the consequence of mutations in the gene encoding the type 2 isoenzyme. Most (60{\%}) affected subjects have homozygous mutations, and the remainder are compound heterozygotes or presumed compound heterozygotes. We report an Italian subject with phenotypic and endocrine features of 5α-reductase 2 deficiency who is homozygous for a substitution mutation (H231R). Although close consanguinity is not present, genealogical data demonstrated that the parents are distantly related, and both parents and the maternal grandmother are heterozygous carriers of the mutation. The fact that this particular mutation results in the formation of an enzyme with considerable residual activity may explain in part the significant degree of virilization that took place in this subject in early infancy. This same mutation (H231R) is present in heterozygous form in two other families, an African-American family and an American family of northern European descent.",
author = "G. Forti and A. Falchetti and S. Santoro and Davis, {D. L.} and Wilson, {J. D.} and Russell, {D. W.}",
year = "1996",
language = "English (US)",
volume = "44",
pages = "477--482",
journal = "Clinical Endocrinology",
issn = "0300-0664",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Steroid 5α-reductase 2 deficiency

T2 - Virilization in early infancy may be due to partial function of mutant enzyme

AU - Forti, G.

AU - Falchetti, A.

AU - Santoro, S.

AU - Davis, D. L.

AU - Wilson, J. D.

AU - Russell, D. W.

PY - 1996

Y1 - 1996

N2 - Male pseudohermaphroditism due to steroid 5α-reductase deficiency Is the consequence of mutations in the gene encoding the type 2 isoenzyme. Most (60%) affected subjects have homozygous mutations, and the remainder are compound heterozygotes or presumed compound heterozygotes. We report an Italian subject with phenotypic and endocrine features of 5α-reductase 2 deficiency who is homozygous for a substitution mutation (H231R). Although close consanguinity is not present, genealogical data demonstrated that the parents are distantly related, and both parents and the maternal grandmother are heterozygous carriers of the mutation. The fact that this particular mutation results in the formation of an enzyme with considerable residual activity may explain in part the significant degree of virilization that took place in this subject in early infancy. This same mutation (H231R) is present in heterozygous form in two other families, an African-American family and an American family of northern European descent.

AB - Male pseudohermaphroditism due to steroid 5α-reductase deficiency Is the consequence of mutations in the gene encoding the type 2 isoenzyme. Most (60%) affected subjects have homozygous mutations, and the remainder are compound heterozygotes or presumed compound heterozygotes. We report an Italian subject with phenotypic and endocrine features of 5α-reductase 2 deficiency who is homozygous for a substitution mutation (H231R). Although close consanguinity is not present, genealogical data demonstrated that the parents are distantly related, and both parents and the maternal grandmother are heterozygous carriers of the mutation. The fact that this particular mutation results in the formation of an enzyme with considerable residual activity may explain in part the significant degree of virilization that took place in this subject in early infancy. This same mutation (H231R) is present in heterozygous form in two other families, an African-American family and an American family of northern European descent.

UR - http://www.scopus.com/inward/record.url?scp=0029886425&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029886425&partnerID=8YFLogxK

M3 - Article

VL - 44

SP - 477

EP - 482

JO - Clinical Endocrinology

JF - Clinical Endocrinology

SN - 0300-0664

IS - 4

ER -