PMID- 23998093
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130902
LR  - 20211021
IS  - 2249-782X (Print)
IS  - 0973-709X (Electronic)
IS  - 0973-709X (Linking)
VI  - 7
IP  - 7
DP  - 2013 Jul
TI  - The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) 
      Positive XX Infertile Male.
PG  - 1457-9
LID - 10.7860/JCDR/2013/5186.3169 [doi]
AB  - The XX male syndrome is a rare genetic disorder. The phenotype is variable; it 
      ranges from a severe impairment of the external genitalia to a normal male 
      phenotype with infertility. It generally results from an unequal crossing over 
      between the short arms of the sex chromosomes (X and Y). We are reporting a case 
      of a 38-year-old man who presented with infertility and the features of 
      hypogonadism and glaucoma. The examinations revealed normal external male 
      genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis 
      showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian 
      Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, 
      XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain 
      Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). 
      Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only 
      Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma 
      in the XX male syndrome, to our knowledge, has not been reported in the 
      literature.
FAU - Jain, Manish
AU  - Jain M
AD  - Scientist, Department of Reproductive Biology, AIIMS , New Delhi, India .
FAU - V, Veeramohan
AU  - V V
FAU - Chaudhary, Isha
AU  - Chaudhary I
FAU - Halder, Ashutosh
AU  - Halder A
LA  - eng
PT  - Journal Article
DEP - 20130701
PL  - India
TA  - J Clin Diagn Res
JT  - Journal of clinical and diagnostic research : JCDR
JID - 101488993
PMC - PMC3749663
OTO - NOTNLM
OT  - Glaucoma
OT  - Sertoli Cell Only
OT  - Sex-determining Region Y Positive
OT  - XX Male Syndrome
EDAT- 2013/09/03 06:00
MHDA- 2013/09/03 06:01
PMCR- 2013/09/01
CRDT- 2013/09/03 06:00
PHST- 2012/10/16 00:00 [received]
PHST- 2013/04/21 00:00 [accepted]
PHST- 2013/09/03 06:00 [entrez]
PHST- 2013/09/03 06:00 [pubmed]
PHST- 2013/09/03 06:01 [medline]
PHST- 2013/09/01 00:00 [pmc-release]
AID - 10.7860/JCDR/2013/5186.3169 [doi]
PST - ppublish
SO  - J Clin Diagn Res. 2013 Jul;7(7):1457-9. doi: 10.7860/JCDR/2013/5186.3169. Epub 
      2013 Jul 1.