| Popis: |
Klinefelter Syndrome (KS) is the most common sex chromosomal disorder which occurs in approximately 1 per 500 live born male births [1]. The characteristic clinical features of KS with the classic 47, XXY karyotype is well recognized which includes seminiferous tubule dysgenesis, androgen deficiency, cognitive and behavioral dysfunction, increased risk of autoimmune disorders, thromboembolic disease and cancer [2]. With each additional X chromosome there is progressive divergence from the normal with increased frequency of phenotypic, endocrine and structural abnormalities [3]. Poly X-syndrome, often described in literature as a variant of KS, is much rarely reported with a prevalence of 1:18,000-1:100,000 male births and has more pronounced congenital malformations and associated medical comorbidities [4]. We describe a case of a patient who had a formal diagnosis of classic KS from a very young age of 14, presented with not only behavioral and cognitive impairment but also with a wide spectrum of medical complications and further identified on reassessment as XXYY genotype. |
