PMID- 19205451
OWN - NLM
STAT- MEDLINE
DCOM- 20090414
LR  - 20200923
IS  - 0390-6663 (Print)
IS  - 0390-6663 (Linking)
VI  - 35
IP  - 4
DP  - 2008
TI  - Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in 
      situ hybridization: a case report.
PG  - 299-300
AB  - The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder 
      of sex development) is a rare form of sex reversal with complex mechanisms 
      leading to a large spectrum of clinical manifestations ranging from ambiguous 
      genitalia in the newborn to normal male phenotype. Therefore, diagnosis is 
      established either pre- or early postnatal, or in adult life due to male 
      infertility. In some cases, subtle clinical signs during childhood and puberty 
      may be overlooked. A 28-year-old married man presented with azoospermia without 
      erectile dysfunction. Between 9-14 years he was examined for the small testes and 
      under-masculinized external genitalia but the diagnosis was not further 
      clarified. At presentation, hormonal laboratory evaluation revealed 
      hypergonadotropic hypogonadism. Chromosome analysis showed a 46, XX karyotype and 
      translocation of SRY (testis-determining factor) from chromosome Y to chromosome 
      X was identified by fluorescence in situ hybridization (FISH). Despite early 
      subtle clinical signs of abnormal sexual development in this new 46, XX male 
      syndrome, medical investigations were triggered by infertility.
FAU - Pepene, C E
AU  - Pepene CE
AD  - Department of Endocrinology, University of Medicine and Pharmacy Cluj-Napoca, 
      Romania. c_e_georgescu@yahoo.com
FAU - Coman, I
AU  - Coman I
FAU - Mihu, D
AU  - Mihu D
FAU - Militaru, M
AU  - Militaru M
FAU - Duncea, I
AU  - Duncea I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Singapore
TA  - Clin Exp Obstet Gynecol
JT  - Clinical and experimental obstetrics & gynecology
JID - 7802110
RN  - 0 (Sex-Determining Region Y Protein)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Y/*genetics
MH  - Gonadal Dysgenesis, Mixed/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics
MH  - Karyotyping
MH  - Male
MH  - Sex-Determining Region Y Protein/*genetics
MH  - Translocation, Genetic/*genetics
EDAT- 2009/02/12 09:00
MHDA- 2009/04/15 09:00
CRDT- 2009/02/12 09:00
PHST- 2009/02/12 09:00 [entrez]
PHST- 2009/02/12 09:00 [pubmed]
PHST- 2009/04/15 09:00 [medline]
PST - ppublish
SO  - Clin Exp Obstet Gynecol. 2008;35(4):299-300.