SRY-negative 46,XX infertile male with Leydig cell hyperplasia: clinical, cytogenetic, and molecular analysis and review of the literature.
OBJECTIVE
To describe a 46,XX male whose infertility is not accounted for by a translocation of the SRY gene to the X chromosome or to the autosomes.


METHODS
Case report.


METHODS
Fertility Center of CHA Gangnam Medical Center, Seoul, South Korea.


METHODS
A 29-year-old male with normal male phenotype, in whom seminal analysis showed complete azoospermia.


METHODS
Laboratory evaluations, radiologic studies, testicular biopsy, G-banding karyotype, in situ fluorescence hybridization, and polymerase chain reaction.


METHODS
Clinical and laboratory findings.


RESULTS
Peripheral blood culture for chromosome studies revealed 46,XX chromosome complement. Cytogenetic and molecular analyses excluded the presence of SRY gene. Radiologic studies displayed male structures without Müllerian ducts. Gonadal biopsy showed testicular Leydig cell hyperplasia.


CONCLUSIONS
This is a very rare case of testicular differentiation in a 46,XX chromosomal constitution without SRY. This finding suggests that some unknown genes downstream participate in sex determination.
Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea.
Ji Won
JW
Kim
Chong Won
CW
Bak
Mi Uk
MU
Chin
Dong Hyun
DH
Cha
Tae Ki
TK
Yoon
Sung Han
SH
Shim
D000328:Adult; D053713:Azoospermia / Q000235:genetics / Q000473:pathology; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D006965:Hyperplasia; D007985:Leydig Cells / Q000473:pathology*; D008297:Male; D055748:SOXB1 Transcription Factors / Q000235:genetics*
C490906:SOX1 protein, human; D055748:SOXB1 Transcription Factors