A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia

I Knoke; S Jakubiczka; H Lehnert; P Wieacker

doi:10.1046/j.1439-0272.1999.00278.x

A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia

Andrologia. 1999 Jul;31(4):199-201. doi: 10.1046/j.1439-0272.1999.00278.x.

Authors

I Knoke¹, S Jakubiczka, H Lehnert, P Wieacker

Affiliation

¹ Institut für Humangenetik, Universitätsklinikum Magdeburg, Germany.

PMID: 10470409
DOI: 10.1046/j.1439-0272.1999.00278.x

Abstract

Mutations of the androgen receptor gene in genetic males cause a variety of androgen insensitivity syndromes varying from female phenotype through intersexuality to male phenotype with infertility. The identification of a missense mutation in the steroid-binding domain in an infertile male with mild features of androgen insensitivity is reported here.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Androgen-Insensitivity Syndrome / complications
Androgen-Insensitivity Syndrome / genetics*
Androgen-Insensitivity Syndrome / metabolism*
Base Sequence
DNA / genetics
Exons
Female
Humans
Male
Molecular Sequence Data
Oligospermia / complications
Oligospermia / genetics*
Oligospermia / metabolism*
Phenotype
Point Mutation*
Receptors, Androgen / genetics*
Trinucleotide Repeats

Substances

Receptors, Androgen
DNA