Abstract
A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.
Highlights
The 48XXYY syndrome is a rare sex chromosome aneuploidy occurring in 1/50.000 among newborns, while its frequency among institutionalized mentally retarded patients is 1/300 [1]
Case reports of 48XXYY patients showed some physical, mental, and psychological differences from 47XXY patients, but the largest series was recently reported by Tartaglia et al describing the characteristics of this disorder [4]
We report a case of a patient with 48XXYY syndrome diagnosed at the age of 45 years in order to strengthen the particularities of this syndrome and to report features not yet described in this disease
Summary
The 48XXYY syndrome is a rare sex chromosome aneuploidy occurring in 1/50.000 among newborns, while its frequency among institutionalized mentally retarded patients is 1/300 [1]. Parker et al established this aneuploidy as a distinct clinical and genetic entity [3]. Case reports of 48XXYY patients showed some physical, mental, and psychological differences from 47XXY patients, but the largest series was recently reported by Tartaglia et al describing the characteristics of this disorder [4]. We report a case of a patient with 48XXYY syndrome diagnosed at the age of 45 years in order to strengthen the particularities of this syndrome and to report features not yet described in this disease
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