[Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome].
OBJECTIVE
To analyze the clinical, molecular and cytogenetic features of 46, XX (SRY positive) male syndrome.


METHODS
The clinical features of 4 patients with 46, XX (SRY positive) male syndrome were analyzed retrospectively. Karyotyping, FISH, PCR amplification of the SRY gene, and Y-chromosome microdeletion were performed to study their molecular cytogenetic features.


RESULTS
The Four patients were all sociopsychologically males of short stature and came to hospital for infertility. Physical examination revealed that their testes were small in volume and soft in texture, but their penes were normal. Semen analyses showed complete azoospermia. Detection of serum sexual hormone suggested hypergonadotropic hypogonadism. All were karyotyped as 46, XX. Molecular analyses revealed the presence of the SRY gene and absence of AZFa, b and c of the Y chromosome. FISH analysis showed that SRY genes were translocated to Xp in 3 of the patients.


CONCLUSIONS
Phenotypically 46, XX (SRY positive) male patients are males generally, for the presence of the SRY gene in the whole genome and azoospermia due to the deletion of AZF. The clinical characteristics of the patient include testis dysgenesis, infertility and short stature. The long arm of the Y chromosome might contain the gene associated with body height. Extensive molecular and cytogenetic studies on 46, XX male syndrome may help to elucidate its genotype-phenotype relation.
Xia
Xin-Yi
XY
Department of Reproduction & Genetics, PLA Research Institute of Clinical Laboratory Medicine, School of Clinical Medicine Nanjing University Medical College, Nanjing General Hospital of Nanjing Command, PLA, Nanjing, 210002 Jiangsu, China. xiaxy@androl.cn
Cui
Ying-Xia
YX
Lu
Hong-Yong
HY
Yang
Bin
B
Wang
Guo-Hong
GH
Pan
Lian-Jun
LJ
Hou
Bao-Shan
BS
Ge
Yi-Feng
YF
Shao
Yong
Y
Yao
Bing
B
Huang
Yu-Feng
YF
D000328:Adult; D001827:Body Height; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D004958:Estradiol / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D024282:Genes, sry; D023961:Gonadal Dysgenesis, 46,XX / Q000097:blood / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D016133:Polymerase Chain Reaction; D011388:Prolactin / Q000097:blood; D013577:Syndrome
D004958:Estradiol; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone