48 / XXYY MALE CASE WITH PRIMARY INFERTILITY

Androgen replacement in a 48, XXYY-male patient.

pothesis that the downward trend may have been due to the systematic attrition of a certain subgroup of patients is interesting, as are many other hypotheses that could have been considered. To identify substantively meaningful subgroups of patients who are similar in their personal characteristics and individual trajectories of violence over time is a worthwhile pursuit; however, such a pursui...

48,XXYY syndrome associated with acromegaloidism.

We report a case of double male syndrome, a type of Klinefelter's syndrome with 48,XXYY chromosome, associated with acromegaloidism. Although the patient presented acromegalic appearance, he did not show hypersecretion of growth hormone (GH). GH provocation tests revealed a rather low GH responses or no responses. After testosterone therapy, the GH responses were normalized except to Insulin to...

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

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...

Brain and behavior in 48, XXYY syndrome

The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Quantitatively, ma...