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An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report.

Abstract

49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic testing at 14 years of age due to facial dysmorphism and hypergonadotropic hypogonadism. He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. He also had agenesis of the right kidney, hydronephrosis of the left kidney with hydroureter which is not a known association of 49,XXXXY syndrome. The patient was the offspring of a mother with gestational diabetes. There is a strong correlation between maternal diabetes and congenital anomalies, especially renal and cardiovascular anomalies. Additionally, it has been noted that gestational diabetes increases the incidence of chromosomal aneuploidies. The teratogenic effects of maternal diabetes during embryogenesis may be the causative factor for the final phenotype of 49,XXXXY syndrome and renal agenesis.

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  • Authors+Show Affiliations

    ,

    Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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    Source

    MeSH

    Abnormalities, Multiple
    Adolescent
    Congenital Abnormalities
    Craniofacial Abnormalities
    Diabetes, Gestational
    Facies
    Female
    Humans
    Hypogonadism
    Kidney
    Kidney Diseases
    Klinefelter Syndrome
    Male
    Muscular Atrophy
    Pregnancy

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    23032147

    Citation

    Sumathipala, Dulika, et al. "An Infant Born to a Mother With Gestational Diabetes Presenting With 49,XXXXY Syndrome and Renal Agenesis-a Case Report." Journal of Clinical Research in Pediatric Endocrinology, vol. 4, no. 4, 2012, pp. 223-5.
    Sumathipala D, Gamage T, Wijesiriwardena B, et al. An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. J Clin Res Pediatr Endocrinol. 2012;4(4):223-5.
    Sumathipala, D., Gamage, T., Wijesiriwardena, B., Jayasekara, R. W., & Dissanayake, V. H. (2012). An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. Journal of Clinical Research in Pediatric Endocrinology, 4(4), pp. 223-5. doi:10.4274/jcrpe.764.
    Sumathipala D, et al. An Infant Born to a Mother With Gestational Diabetes Presenting With 49,XXXXY Syndrome and Renal Agenesis-a Case Report. J Clin Res Pediatr Endocrinol. 2012;4(4):223-5. PubMed PMID: 23032147.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. AU - Sumathipala,Dulika, AU - Gamage,Thilini, AU - Wijesiriwardena,Bandula, AU - Jayasekara,Rohan W, AU - Dissanayake,Vajira H W, Y1 - 2012/10/02/ PY - 2012/12/25/received PY - 2012/12/25/accepted PY - 2012/10/4/entrez PY - 2012/10/4/pubmed PY - 2013/5/29/medline SP - 223 EP - 5 JF - Journal of clinical research in pediatric endocrinology JO - J Clin Res Pediatr Endocrinol VL - 4 IS - 4 N2 - 49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic testing at 14 years of age due to facial dysmorphism and hypergonadotropic hypogonadism. He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. He also had agenesis of the right kidney, hydronephrosis of the left kidney with hydroureter which is not a known association of 49,XXXXY syndrome. The patient was the offspring of a mother with gestational diabetes. There is a strong correlation between maternal diabetes and congenital anomalies, especially renal and cardiovascular anomalies. Additionally, it has been noted that gestational diabetes increases the incidence of chromosomal aneuploidies. The teratogenic effects of maternal diabetes during embryogenesis may be the causative factor for the final phenotype of 49,XXXXY syndrome and renal agenesis. SN - 1308-5735 UR - https://www.unboundmedicine.com/medline/citation/23032147/An_infant_born_to_a_mother_with_gestational_diabetes_presenting_with_49XXXXY_syndrome_and_renal_agenesis_a_case_report_ L2 - https://doi.org/10.4274/jcrpe.764 DB - PRIME DP - Unbound Medicine ER -