PMID- 10470409 OWN - NLM STAT- MEDLINE DCOM- 19991021 LR - 20190915 IS - 0303-4569 (Print) IS - 0303-4569 (Linking) VI - 31 IP - 4 DP - 1999 Jul TI - A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia. PG - 199-201 AB - 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. FAU - Knoke, I AU - Knoke I AD - Institut fur Humangenetik, Universitatsklinikum Magdeburg, Germany. FAU - Jakubiczka, S AU - Jakubiczka S FAU - Lehnert, H AU - Lehnert H FAU - Wieacker, P AU - Wieacker P LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Germany TA - Andrologia JT - Andrologia JID - 0423506 RN - 0 (Receptors, Androgen) RN - 9007-49-2 (DNA) SB - IM MH - Adult MH - Androgen-Insensitivity Syndrome/complications/*genetics/*metabolism MH - Base Sequence MH - DNA/genetics MH - Exons MH - Female MH - Humans MH - Male MH - Molecular Sequence Data MH - Oligospermia/complications/*genetics/*metabolism MH - Phenotype MH - *Point Mutation MH - Receptors, Androgen/*genetics MH - Trinucleotide Repeats EDAT- 1999/09/02 00:00 MHDA- 1999/09/02 00:01 CRDT- 1999/09/02 00:00 PHST- 1999/09/02 00:00 [pubmed] PHST- 1999/09/02 00:01 [medline] PHST- 1999/09/02 00:00 [entrez] AID - 10.1046/j.1439-0272.1999.00278.x [doi] PST - ppublish SO - Andrologia. 1999 Jul;31(4):199-201. doi: 10.1046/j.1439-0272.1999.00278.x.