Hypothalamic Hypothyroidism and XXY/XY Sex Chromosome Mosaicism: Report of a Case
Open Access
- 1 May 1976
- journal article
- research article
- Published by Oxford University Press (OUP) in American Journal of Clinical Pathology
- Vol. 65 (5) , 675-679
- https://doi.org/10.1093/ajcp/65.5.675
Abstract
Schreiber, Douglas, Palutke, Waldemar, and Cohen, Margo P.: Hypothalamic hypothyroidism and XXY/XY sex chromosome mosaicism. Report of a case. An 18-year-old boy with clinical features of Klinefelter’s syndrome in whose case the buccal smear was chromatin-negative and chromosomal analysis of peripheral blood revealed 46 XY karyotype is described. Diagnosis was confirmed by demonstration of an XXY cell line in cultured skin fibroblasts. Low circulating thyroxine levels were found despite absence of clinical hypothyroidism, and TSH was barely detectable. The studies are consistent with an isolated deficiency of thyrotropin-releasing hormone in a patient with XY/XXY mosaicism.Keywords
This publication has 4 references indexed in Scilit:
- THYROID FUNCTION IN PATIENTS WITH SEX CHROMOSOMAL ANOMALIES*Journal of Intellectual Disability Research, 2008
- Klinefelter's syndrome. Clinical and laboratory findings in 50 patientsArchives of internal medicine (1960), 1966
- Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephalyThe American Journal of Medicine, 1966
- Thyroid Function in Patients with Aspermiogenesis and Testicular Tubular SclerosisNew England Journal of Medicine, 1963