title: A rare case of a male with 45, XO, SRY+, ZFY+ with short stature and mild Turner stigmata.
abstract: BACKGROUND
  Turner syndrome is hypothesized to result from haploinsufficiency of certain genes expressed from both sex chromosomes that escape X inactivation.
  
  
  METHODS
  We present the rare case of a 4-year-old boy who was referred to the pediatric endocrinology unit for evaluation of slight growth delay.
  
  
  RESULTS
  Standard cytogenetic analysis showed a 45,XO karyotype. Molecular studies disclosed the presence of an intact SRY homeobox region and the ZFY region sited on the Y short arm. Other Y chromosome sequences which are normally found on the short arm of chromosome Y (p) were absent and their exact location on a different chromosome remained unclear. Subsequently, FISH (fluorescent in situ hybridization) analysis failed to detect any Y sequences, while haplotype analysis indicated that the present X chromosome was of paternal origin.
  
  
  CONCLUSIONS
  Phenotype-genotype correlation studies were consistent with a male patient presenting with short stature and some of the Turner's syndrome stigmata. The consequences for the patients with this chromosomal abnormality and treatment with recombinant growth hormone are also discussed.
authors: Department of Pediatric Endocrinology, Aglaia Kyriakou Children's Hospital, Goudi, Athens, Greece.
authors: Georgia
authors: G
authors: Ntali
authors: Christalena
authors: C
authors: Sofocleous
authors: Elisabeth
authors: E
authors: Kouvidi
authors: Georgia
authors: G
authors: Tsagaraki
authors: Maria
authors: M
authors: Dolianiti
authors: Asteroula
authors: A
authors: Kaimara-Papathanasiou
authors: Helen
authors: H
authors: Fryssira
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; D051741:Kruppel-Like Transcription Factors; C106071:SHOX protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D000074122:Short Stature Homeobox Protein; C054430:ZFY protein, human