Outline
Objective: It is generally assumed by many clinicians that males with Klinefelter's Syndrome (KS) are tall, eunichoid, undervirilized with gynecomastia, intellectually deficient, and sterile. This is the "classic" description of KS found in most textbooks. Our objective is to clinically describe the adult male with KS, diagnosed for the first time during an infertility evaluation, and thereby extend the phenotypic spectrum of this disorder to include men who do not have these "classic" features.
Design: Retrospective analysis of 20 KS adults (all 47,XXY) diagnosed by history and physical examination, as well as hormonal and genetic findings, during the evaluation of azoospermia.
Materials/Methods: These 20 men were thoroughly characterized: age at presentation, level of education, career, libido, height, weight, gynecomastia, hair distribution, testis parameters, follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (T).
Results: Age of presentation: 24-47 (avg. 36); height 5'7"-6'7" (avg. 6'0"); weight 110-285 lbs. (avg. 209); FSH 2.7-56.8 mIU/ml (avg. 29.2); LH 2.3-34.1 mIU/ml (avg. 15.6); T 50-746 ng/dl (avg. 239); only 4 described decreased libido (no correlation with T level); only 6 described decreased beard growth and body hair; 19/20 had testes < 2 × 2 cm (soft or firm). Eight (8) men completed only high school, 5 went to trade school, 5 finished college, 2 obtained Master's degrees.
Conclusions: The description of classic KS is that of the young male who is poorly virilized due to failure of testicular androgen production. He may be intellectually impaired with learning deficits. This represents the severe end of the KS phenotypic spectrum, and is how most clinicians would describe a KS male. Furthermore, many believe that KS males, a priori, require testosterone supplementation. However, many KS males are adequately virilized, coming to diagnosis only after obtaining a karyotype for azoospermia. They represent the less affected end of the phenotypic and intellectual spectrum. KS males may become happy, healthy, and productive members of society. The information presented may change the counseling given to the parents of prenatally diagnosed fetuses, neonates, or teenagers providing a picture of the potentials for their child that are not necessarily as drastic and limited as has previously been assumed. It also tells us that an azoospermic male may still have KS even if he does not present with the classical features and that T replacment is often not required.
Section Description^
The abstracts will be presented in the ASRM 2001 meeting sessions and are published in the order of their presentation. The abstracts are printed exactly as submitted. Abstracts of special lectures and clinical seminars are not included.