PMID: 20101895Jan 28, 2010Paper

Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad

Journal of Pediatric Endocrinology & Metabolism : JPEM
Ageliki KaratzaChristos Salakos

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.

References

Feb 1, 1997·Journal of Pediatric Surgery·A Peña
Oct 23, 1998·Journal of Medical Genetics·T E KellyW L Golden
Aug 3, 1999·Pediatrics·L TelviJ L Chaussain
Jan 21, 2000·Hormone Research·J MüllerN E Skakkebaek
Dec 6, 2005·Urologia Internationalis·Dominic Frimberger, John P Gearhart

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Citations

Feb 15, 2012·Orvosi hetilap·László SágodiJudit Kovács
Apr 5, 2018·The Journal of Clinical Endocrinology and Metabolism·Grazia MorandiMehul T Dattani
Jan 17, 2019·Case Reports in Endocrinology·Hanane LatrechAhmed Gaouzi

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