We report the case of a 42-year-old transsexual with Di-George syndrome (DGS) presenting in adulthood with profound hypocalcaemia and personality disorder. The patient had multiple hospital admissions with episodes of deliberate self-harm and recurrent seizures. Routine investigations revealed hypocalcaemia secondary to hypoparathyroidism. The diagnosis of DGS was delayed until six years later. The clue to the underlying condition was the finding of DGS in the patients daughter with learning disability. The diagnosis was confirmed by fluorescent in situ hybridisation (FISH) analysis, which demonstrated micro-deletion of 22q11.2. Echocardiogram demonstrated no cardiac defects. Medical management of the hypocalcaemia was complicated by non-compliance, likely to be related to the patients personality disorder. Learning difficulties and schizophrenia are well recognised in association with.
Di-George syndrome, though no definite personality disorders have previously been described. This shows that Di-George syndrome can present late in adulthood with hypocalcaemia without any other typical features and the psychiatric manifestations can be diverse. The awareness of the phenotypic variability is important as presentation of Di-George syndrome can be subtle which may delay the diagnosis. This has enormous implications on health and family planning as subjects with 22q11 deletion have a 50% risk of transmitting the deletion; they should be offered genetic counselling and FISH analysis for pre-natal detection as early as 1012 weeks of gestation by chorionic villous sampling.
01 - 05 Apr 2006
European Society of Endocrinology