Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation

• Main Authors: Byung Ho Choi, Uk Hyun Kim, Kun Soo Lee, Cheol Woo Ko
• Format: Article
• Language: English
• Published: Korean Society of Pediatric Endocrinology 2013-09-01
• Series: Annals of Pediatric Endocrinology & Metabolism
• Subjects: Genetic translocation; Endocrine system diseases; Child
• Online Access: http://e-apem.org/upload/pdf/apem-18-111.pdf

Purpose45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this karyotype in children.MethodsBetween January 2007 and December 2012, children diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype by chromosome analysis were analyzed retrospectively.ResultsEight children (5 boys and 3 girls) were diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype. They ranged in age from 5 years and 6 months to 12 years and 4 months. The phenotypes of the study patients consisted of 1 hypogonadotrophic hypogonadism, 1 precocious puberty, 3 early puberty, 2 growth hormone deficiency (GHD) (partial) and 1 idiopathic short stature. As shown here t(13;14)(q10;q10) Robertsonian translocation shows a wide range of phenotypes.ConclusionIt can be said that t(13;14)(q10;q10) Robertsonian translocation shows various phenotypes from GHD to precocious puberty in children. Further large-scale studies are necessary.