PMID- 10221692
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20190513
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 14
IP  - 3
DP  - 1999 Mar
TI  - Androgen receptor gene mutations in 46,XY females with germ cell tumours.
PG  - 664-70
AB  - We present clinical findings and molecular characterization in two patients
      previously diagnosed as 46,XY female gonadal dysgenesis with germ cell tumour.
      Both patients showed a female general phenotype with unambiguously female
      external genitalia and primary amenorrhoea compatible with complete androgen
      insensitivity syndrome. The first patient, at the age of 31 years, developed a
      dysgerminoma measuring 8 x 13 x 10 cm in one abdominal testis. Genetic analysis
      revealed a single nucleotide substitution on exon 4 in the hormone-binding domain
      of the androgen receptor (AR) gene, resulting in a change of codon 681 GAG
      (glutamic acid) to AAG (lysine). The second patient, at the age of 17 years,
      developed a dysgerminoma measuring 12 x 10 x 7 cm in one abdominal testis and
      gonadoblastoma in the other testis. Genetic analysis showed a point mutation on
      exon 3 in the DNA-binding domain of the AR gene resulting in a change of codon
      607 CGA (arginine) to CAA (glutamine). Arg607-Gln and Arg608-Lys point mutations 
      in the DNA-binding domain of the AR gene have been associated with male breast
      cancer in partial androgen insensitivity syndrome. A codon 607 mutation in the
      DNA-binding domain of the AR gene in our patient 2 is associated with early
      development of germ cell tumour. We suggest regular molecular genetic analysis of
      the AR gene in 46,XY females with germ cell tumour and androgen insensitivity
      syndrome to detect differences in the specific regions of AR gene involved in
      early progression toward oncogenesis of the dysgenetic gonads.
FAU - Chen, C P
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, and National
      Yang-Ming University, Taipei, Taiwan.
FAU - Chern, S R
AU  - Chern SR
FAU - Wang, T Y
AU  - Wang TY
FAU - Wang, W
AU  - Wang W
FAU - Wang, K L
AU  - Wang KL
FAU - Jeng, C J
AU  - Jeng CJ
LA  - eng
PT  - Journal Article
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
RN  - 0 (Codon)
RN  - 0 (Receptors, Androgen)
RN  - 3KX376GY7L (Glutamic Acid)
RN  - 9007-49-2 (DNA)
RN  - K3Z4F929H6 (Lysine)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Binding Sites
MH  - Codon
MH  - DNA/analysis
MH  - Dysgerminoma/genetics/pathology/surgery
MH  - Exons
MH  - Germinoma/*genetics
MH  - Glutamic Acid/genetics
MH  - Gonadoblastoma/genetics/pathology/surgery
MH  - Humans
MH  - Lysine/genetics
MH  - Male
MH  - *Mutation
MH  - Phenotype
MH  - Point Mutation
MH  - Receptors, Androgen/*genetics
MH  - Testicular Neoplasms/genetics/pathology/surgery
EDAT- 1999/04/30 00:00
MHDA- 1999/04/30 00:01
CRDT- 1999/04/30 00:00
PHST- 1999/04/30 00:00 [pubmed]
PHST- 1999/04/30 00:01 [medline]
PHST- 1999/04/30 00:00 [entrez]
AID - 10.1093/humrep/14.3.664 [doi]
PST - ppublish
SO  - Hum Reprod. 1999 Mar;14(3):664-70. doi: 10.1093/humrep/14.3.664.