TY - JOUR
T1 - Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels
AU - Rabinowitz, David
AU - Cohen, Maimon M.
AU - Rosenmann, Eliezer
AU - Rosenmann, Ada
AU - Segal, Shmuel
AU - Bell, Julian
AU - Rosler, Ariel
AU - Spitz, Irving
N1 - Funding Information:
From the Departments of Chemical Endocrinology, Human Genetics, Pathology and Obstetrics and Gynecology, Hadassah University Hospital, Jerusalem, Israel. This study was supported in part by U.S. Department of Health, Education and Welfare Project No. 06-130-2, The Population Council, Mlal Hapayis and the Israel Society for Psychobiology. During the course of this work, D.R. was an Established Investigator, Israeli Ministry of Health. Requests for reprints should be addressed to Dr. David Rabinowitz. Manuscript accepted February 5. 1975. l Present address: Vanderbilt University School of Medicine, Nashville, Tennessee 37232.
PY - 1975/10
Y1 - 1975/10
N2 - An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. The subject manifested chromosomal mosalcism consisting of three stem cell lines (45X; 46XY; and 47XXY). Testicular biopsy specimen showed germinal cell aplasia: the tubules were lined by Sertoli cells only, whereas the Leydig cells appeared normal. Serum human follicle stimulating hormone levels were undetectable and rose to only 5 mlU/ml after the administration of luteinizing hormone releasing hormone. Serum human luteinizing hormone varied between normal and moderately elevated values, and serum testosterone was in the low normal range. We discuss the features which distinguish this syndrome from isolated gonadotropin deficiency and from classic germinal cell aplasia. We suggest that the patient represents a new variant of Klinefelter's syndrome, with failure of human follicle stimulating hormone release secondary to prolonged hypersecretion.
AB - An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. The subject manifested chromosomal mosalcism consisting of three stem cell lines (45X; 46XY; and 47XXY). Testicular biopsy specimen showed germinal cell aplasia: the tubules were lined by Sertoli cells only, whereas the Leydig cells appeared normal. Serum human follicle stimulating hormone levels were undetectable and rose to only 5 mlU/ml after the administration of luteinizing hormone releasing hormone. Serum human luteinizing hormone varied between normal and moderately elevated values, and serum testosterone was in the low normal range. We discuss the features which distinguish this syndrome from isolated gonadotropin deficiency and from classic germinal cell aplasia. We suggest that the patient represents a new variant of Klinefelter's syndrome, with failure of human follicle stimulating hormone release secondary to prolonged hypersecretion.
UR - http://www.scopus.com/inward/record.url?scp=0016700525&partnerID=8YFLogxK
U2 - 10.1016/0002-9343(75)90266-1
DO - 10.1016/0002-9343(75)90266-1
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C2 - 1166860
AN - SCOPUS:0016700525
SN - 0002-9343
VL - 59
SP - 584
EP - 590
JO - American Journal of Medicine
JF - American Journal of Medicine
IS - 4
ER -