Renal hypouricaemia in a patient with 48,XXYY syndrome.

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall st...

Successful living-related kidney transplantation in hereditary renal hypouricaemia.

Successful living-related kidney transplantation in hereditary renal hypouricaemia Sir, Hereditary renal hypouricaemia (MIM: 220150) is a syndrome that involves a defect in urate transporter1 (URAT1) for urate reabsorption at the brush border membrane of the proximal tubule in the kidney [1]. A G774A mutation in SLC22A12 encoding URAT1 is the dominant mutation in Japanese [2]. Since hypouricaem...

Chromosome 2 fragility- 48, XXYY syndrome

We report a case of double male syndrome, a type of Klinefelter syndrome with 48, XXYY chromosome. The case had been referred to our department because of severe mental retardation and behavioural and psychiatric problems. In the karyotype analysis, the chromosome constitution of that 16–year–old case was revealed as 48, XXYY, fra 2q (32.2–32.3). More than 70 patients with 48, XXYY chromosome c...

Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome

Problematic Sexual Behavior in a Patient of 48, XXYY Syndrome: A Case Report

A 17 year-old-boy with a diagnosis of 48, XXYY syndrome, presented with suicidal ideation and auditory hallucinations. He has had history of problematic sexual behaviors since age six. We discuss his clinical presentation and highlight his behavioral issues, which may be due to low intelligence, sexual abuse, neglect or a behavior pattern of a person with 48, XXYY syndrome. Scientific literatur...