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IV. CLINICAL ENDOCRINOLOGY, SUBJECT: KLINEFELTER'S SYNDROME AND ITS VARIENTS: A HORMONAL AND CHROMOSOMAL STUDY ( RECENT PROGRESS IN HORMONE RESEARCH, VOL. 24, 1968, PP 321 - 363 )

CARPENTER, G R [UNIVERSITY OF WASHINGTON, SEATTLE]; DRUCKER, W D [NEW YORK UNIVERSITY SCHOOL OF MEDICINE]; GANDY, H M [CORNELL MEDICAL CENTER]; GORDON, D L [UNIVERSITY OF WASHINGTON, SEATTLE]; PAULSEN, C A [UNIVERSITY OF WASHINGTON, SEATTLE]

HREX

Location - DOE/NNSA NUCLEAR TESTING ARCHIVE Address - P.O. Box 98521 City - Las Vegas State - NV Zip - 89193-8521 Phone - (702)794-5106 Fax - (702)862-4240 Email - NTA@NV.DOE.GOV

JOURNAL ARTICLE

1968 Dec 31

Never classified

0043

NV0703770

1994 Aug 27

2012 May 14

A SURVEY WAS TAKEN OF NONINSTITUTIONALIZED ADULT MALES WHO VISITED THE OUTPATIENT DEPARTMENT OF GENERAL HOSPITAL. THE RESULTS INDICATED THE IMPORTANCE OF MOSAICISM IN KLINEFELTER'S SYNDROME. FIVE ADDITIONAL PATIENTS WITH VARYING DEGREES OF DECREASED TESTICULAR FUNCTION THAT DEMONSTRATED XY/XXY MOSAICISM WERE STUDIED. THE FEATURES OF THESE PATIENTS WERE THEN COMPARED WITH THE CLINICAL AND LABORATORY FINDINGS OF PATIENTS WHOSE SKIN, PERIPHERAL BLOOD, AND/OR TESTICULAR PREPARATIONS DEMONSTRATED XY/XXY MOSAICISM. THE DATA SUGGEST THAT THERE IS LESS PATHOLOGY IN PATIENTS WITH XY/XXY MOSAICISM. TESTICULAR BIOPSY SPECIMENS WERE OBTAINED FROM EACH OF SIX PATIENTS WITH XY/XXY MOSAICISM. THESE FINDINGS ARE IN CONTRAST TO THE MARKED DEGREE OF DAMAGE NOTED IN THOSE PATIENTS WITH KLINEFELTER'S SYNDROME WHO ARE NOT EXAMPLES OF MOSAICISM. LEYDIG CELL FUNCTION WAS EVALUATED IN PATIENTS WITH KLINEFELTER'S SYNDROME. THESE RESULTS WERE THEN COMPARED WITH VALUES OBTAINED FROM NORMAL ADULT MALES. THE DATA SHOW THAT SOME PATIENTS WITH KLINEFELTER'S SYNDROME HAVE TESTOSTERONE LEVELS THAT ARE COMPARABLE TO NORMAL ADULT MALE LEVELS. FINDINGS SUGGEST: (1) THE CLINICAL FEATURES OF KLINEFELTER'S SYNDROME MAY BE LESS SEVERE WHEN SEX CHROMOSOMAL MOSAICISM EXISTS. (2) THE PRESENCE OF AN XXY STEM-CELL LINE IN THE TESTIS IS ASSOCIATED WITH KLINEFELTER'S SYNDROME EVEN IF IT CANNOT BE DETECTED IN THE SKIN AND/OR PERIPHERAL BLOOD. (3) DESPITE THE PRESENCE OF NORMAL PLASMA TESTOSTERONE TITERS IN SOME PATIENTS, THE ELEVATED SERUM HLH LEVELS SUGGESTS THAT LEYDIG CELL FUNCTION IS ABNORMAL.