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Purpose Hamartomas of tuber cinereum present as ectopic tissue in the hypothalamic region. Clinically, the usual hypothalamic hamartomas manifest themself by gelastic seizures and pubertas praecox. We observed an increased coincidence of the presence of X-linked recessive deafness DFNX2 (DFN3) and a hamartoma of the tuber cinereum. Initially five patients presented with hearing loss in childhood, two additional were already adults, not showing any characteristic symptoms for a hamartoma but signs of delayed puberty.
Methods Seven patients who underwent computed tomography imaging due to a sensorineural hearing loss and had a hamartoma of the tuber cinereum in addition to X-linked deafness DFNX2 (DFN3) were included in a retrospective study. Patients underwent initial neurologic, endocrinologic, and genetic evaluation. Long-term follow-up was performed after 10 to 12 years.
Results The average age at the initial exam was 12.9 years (range 4–29). All patients genetically proven nonsyndromic, X-linked deafness associated with the POU3F4 gene. Three out of six patients presented signs of delayed puberty. None of all seven showed any evidence of pubertas praecox or gelastic seizures at mean age of 17 years (range 17–29 years) at any time.
Conclusion Hamartomas of tuber cinereum are often coincident with DFNX2. Clinically, half of the cases are—in contrary to the usual pubertas praecox—associated with growth hormone deficiency and delayed puberty, in the sense of pubertas tarda, when coincident. Clinicians' and radiologists' knowledge and awareness of this rare combination are crucial to identify children early enough for hormone-sensitive treatment.
Keywords X-linked deafness - sensorineural hearing loss - pubertas tarda - hamartomas* These authors contributed equally to this work.
The present study is based on a poster/abstract published as such in Clinical Neuroradiology in 2013. The correlation between the coexistence of hamartoma, X-linked deafness, and pubertas tarda described in the manuscript was thus first detected by us in 2013. As such, the present study is a continuation and a long-term observational study of the interplay of clinical symptoms observed at that time based on a common underlying genetic defect. (Compare also[18] [19]: Giesemann A, Hartmann H, Franke D, et al. Hamartome in Kombination mit X-chromosomaler Taubheit zeigen keine Epilepsie und keine Pubertas praecox. In: Clinical Neuroradiology. 2013; 0177).
Written consent for this retrospective analysis was waived by the local institutional ethics committee. All patients enrolled in this study agreed to their participation in this study in written form.
Anja Giesemann: data sampling and analysis, writing, supervising; Katja Döring: data analysis, writing, editing; Friedrich Götz: data analysis, supervising. Hans Hartmann: clinical examination, supervising; Athanasia Warnecke: ENT data, supervising; Anja Schöner-Heinisch: genetic testing, writing genetic; Doris Steinemann: array CGH analyses.
Received: 30 January 2024
Accepted: 10 July 2024
Article published online:
31 July 2024
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