title: Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad.
abstract: We report on a neonate with a disorder of sex development, Prader 3-4 external genitalia and a palpable structure in the right inguinal canal suggestive of gonadal tissue. Chromosome studies on blood lymphocytes showed monosomy of chromosome X. Laparoscopy identified a streak-like gonad on the left side, unicorn uterus and a dysgenetic testis on the right, attached to a Fallopian tube. Because of the unilateral palpable gonad and the presence of ambiguous genitalia we investigated further for the presence of Y material. Quantitative fluorescent PCR analysis of material from the dysgenetic gonad and skin fibroblasts revealed the presence of chromosome Y-derived sequences, suggesting sex chromosome mosaicism. In 45,X/46,XY mosaicism, chromosome studies carried out on peripheral lymphocytes do not always reflect the proportion of cell lines in the gonads. The detection of Y chromosome material in a dysgenetic gonad is extremely significant, due to the high risk of malignant transformation.
authors.affiliation: Department of Pediatrics, University of Patras Medical School, Rio, Greece.
authors.forename: Ageliki
authors.initials: A
authors.lastname: Karatza
authors.forename: Dionisios
authors.initials: D
authors.lastname: Chrysis
authors.forename: Eunice-Georgia
authors.initials: EG
authors.lastname: Stefanou
authors.forename: Stefanos
authors.initials: S
authors.lastname: Mantagos
authors.forename: Christos
authors.initials: C
authors.lastname: Salakos
mesh_terms: D002478:Cells, Cultured; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000737:chemistry / Q000166:cytology; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D006066:Gonads / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D050090:Ovotesticular Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations; D012867:Skin / Q000737:chemistry / Q000166:cytology