Female-to-male transsexual with 47,XXX karyotype.

BACKGROUND: There are few reports describing chromosomal abnormalities in transsexuals. In rare cases, transsexualism and sexual chromosomal multiplicity coexist. Six cases of male-to-female transsexuals with 47,XYY chromosomal pattern have been previously reported. We have not encountered any female transsexual cases with 47,XXX karyotype in the literature. METHODS: A 21-year-old female patient came to our outpatient department with depressive symptoms and suicidal thoughts. On psychiatric interview, she reported that she had feelings of discomfort with her gender identity and had desired to be male since her childhood. Then, we performed cytogenetic investigation using blood culture and G chromosome banding. RESULTS: Histology and DNA histograms of the patient revealed a chromosomal pattern of 47,XXX. CONCLUSIONS: We conclude that sexual chromosomal abnormalities in some transsexuals may cause a vulnerability to development of a gender identity disorder.     

Partial epilepsy and 47,XXX karyotype: report of four cases

Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.     

Electroclinical findings in four patients with karyotype 47,XYY

47,XYY karyotype is a Y chromosome aneuploidy characterized by an extra copy of the Y chromosome in each of the male cells, with an incidence of 1/1000 males. Most studies about 47,XYY have focused on growth, cognitive development, academic performance, behavioural problems, speech and language skills and neuromuscular status. Up-to-date reports on seizures and EEG characteristics concerning 47,XYY men have been sporadic and poorly detailed. The aim of this study is to describe the particular electroclinical patterns in a group of four subjects with 47,XYY karyotype. We performed neurological examinations, psychometric tests, brain MRIs, prolonged EEG recordings during awake and sleep on four unselected males 47,XYY. All four patients presented various degrees of neuropsychological impairment. An incidence of familial antecedents for epilepsy was confirmed by three families. When present, seizures were very similar to that of benign epilepsy with central-temporal spikes, (BECTS), for age of onset, clinical picture, evolution and good response to antiepileptic drugs. EEG recordings in all four subjects showed normal background activity and sleep organization, particular focal spikes and sharp-waves localized mostly over the vertex and/or central-temporal regions, which increased during sleep. In our opinion, these 47,XYY patients present a particular electroclinical pattern.     

Continuous spikes and waves during slow sleep in a child with karyotype 47, XYY

The XYY syndrome is a sex chromosome aneuploidy occurring in one of 1,000 live male births. Only few data exist regarding the correlation between this syndrome and epilepsy. An EEG pattern suggestive of benign focal epilepsy with centro‐temporal spikes has recently been described in four XYY patients. We report the first patient with XYY trisomy, rolandic spikes, and atypical evolution with continuous spikes and waves during slow sleep (CSWSS). The present report suggests that the association between an EEG pattern similar to that of BECTS and 47, XYY karyotype may not be coincidental. Moreover, we show that an atypical evolution with CSWSS may occur in this chromosomal disorder.     

Homicidality in schizophrenia: a replication study

This study attempted to replicate the results of R. C. Schwartz, S. Petersen, and J. L. Skaggs (2001) by testing predictors of homicidality in a new sample of participants with schizophrenia. Results of multiple regression analyses showed that manic symptoms and substance abuse were significantly positively correlated with more extreme homicidality. Global Assessment of Functioning scale ratings were significantly negatively correlated with ratings on homicidality. Finally, men displayed significantly heightened homicidality as compared with women. These findings lend support to the hypothesis that clinicians should pay particular attention to evaluating homicidality in patients who are male, have schizophrenia, who abuse substances, who show acute manic symptoms, and whose global functioning has recently declined.     

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene

Rett syndrome (RTT) is an X-linked condition which affects almost exclusively females. Here we report the first case of RTT syndrome in a boy with an XXY chromosomal constitution. Mutation analysis of the MECP2 gene in the affected patient revealed a 423 C-->G substitution in exon 4, resulting in a new stop codon (Y141 X). This change was not present in both his parents or in his older sister. Taking into account the incidence of both RTT syndrome as well as of Klinefelter syndrome, the probability for the simultaneous occurrence of these two events is very low (about approximately 1 in 10 to 15,000,000 births). However, the recent identification of mutations in the MECP2 gene in affected males indicates that screening of the MECP2 gene should be considered also in males with severe mental retardation (MR) in whom the most common forms of MR have been excluded.     

A neuropathological study of early onset Cockayne syndrome with chromosomal anomaly 47XXX.

We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnosis of 47XXX was made on the basis of a chromosomal study. Physical shortness became increasingly prominent while her weight remained stationary. Psychomotor retardation was noted, and she could never sit alone. A brain CT scan showed cerebral atrophy and calcification of the basal ganglia. Cultured skin fibroblast exhibited significant sensitivity to the ultraviolet light. She died from a chest infection at the age of 7 years and 4 months. Microscopically, the renal glomeruli showed diffuse sclerotic changes with thick capillary basement membranes. A neuropathological examination revealed a very small brain (295 gm), extensive myelin deficiency, gliosis in the white matter, and calcifications in the basal ganglia, and cerebral and cerebellar cortices. The loss of both Purkinje and granular cells was noticed in the cerebellar cortex. This is the first report of a case with the Cockayne syndrome and 47XXX, and the 47XXX in this patient seems to be coincidental.     

Acute psychosis in a woman with a prolactinoma

Changes in dopaminergic activity were inferred in a woman with a known prolactinoma several months prior to an acute psychotic episode. Serum prolactin levels reflected central dopaminergic activity, since both the endocrinologic regulation of prolactinomas and the pathophysiology of acute psychosis have been linked to alterations in dopaminergic activity. Serum prolactin levels fell approximately four months prior to onset of the psychotic episode and thus may have provided a predictive indicator of changing dopamine activity in both the tubero-infundibular and the mesolimbic-mesocortical dopaminergic systems.     

Psychotherapy with a schizophrenic woman

Summary The authors describe the resolution of a schizophrenic illness in a female patient aged 41 years, during psychotherapy of a modified type. The treatment followed a pre-arranged plan in which the therapist had considerable faith. The patient progressed from an oral to an anal, and finally to a genital or neo-neurotic, phase. The authors feel that pre-verbal factors in the relationship influenced the course of the illness.From the department of psychological medicine, University of Glasgow, Glasgow, Scotland. The participation of Dr. J. L. Cameron in the therapy reported here was made possible through a grant from the Scottish Hospitals Endowments Research Trust.     

Clinical,hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia

Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young adult female who manifested with recurrent diarrheal illness in her first decade, followed by anemia, RP, and neurological involvement with progressive deafness, cerebellar and sensory ataxia, and subclinical neuropathy in her second decade of life. While RP and sensory ataxia due to vitamin E deficiency are well-recognized features of abetalipoproteinemia, deafness is rarely described. In addition, we have highlighted the abnormal posterior column signal changes in the cervical cord in this patient. Early recognition avoids unnecessary investigations and has a potential to retard the disease progression by replacing some of the deficient vitamins.