First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X

Abstract

49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopaedics, psychiatry, and clinical genetic evaluations. To our knowledge, our cases are the first to report the sibling patients with 49,XXXXY and 45,X.

Keywords

49,XXXXY - 45,X - meiotic segregation

• References

• 1 Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991; 87 (01) 81-83
• 2 Visootsak J, Graham Jr JM. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 1: 42 . Doi: 10.1186/1750-1172-1-42
• 3 Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991; 20 (01) 121-152
• 4 Peet J, Weaver DD, Vance GH. 49,XXXXY: a distinct phenotype. Three new cases and review. J Med Genet 1998; 35 (05) 420-424
• 5 Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics 1995; 96 (4 Pt 1): 672-682
• 6 Pallister PD. 49,XXXXY syndrome. Am J Med Genet 1982; 13 (03) 337-339
• 7 Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004; 351 (12) 1227-1238
• 8 Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr 2011; 100 (06) 851-860
• 9 Ng SF, Boo NY, Wu LL, Shuib S. A rare case of ambiguous genitalia. Singapore Med J 2007; 48 (09) 858-861