Reach further, in an Open Access Journal Endocrinology, Diabetes & Metabolism Case Reports

ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology

Published by BioScientifica
Endocrine Abstracts (2009) 20 P515 

Why does Klinefelter syndrome often remain undiagnosed?

Daria Gusakova1, Svetlana Kalinchenko2, George Mskhalaya2 & Yuliya Tishova3

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Introduction: Underdiagnosis and delayed diagnosis of Klinefelter syndrome (KS) is a major problem. KS is revealed only in 25% of the expected amount of patients. Early diagnosis facilitates prevention of the long-term consequences of hypogonadism and permits to begin testosterone-replacement therapy opportunely. The ‘prototypic’ patient with KS has traditionally been described as tall, thin, with long hips, narrow shoulders, having gynecomastia, small testes, sparse body hair and azoospermia. A less similar phenotype, however, has been described.

Objective: To study the phenotypic differences of patients with KS (karyotype 47,XXY).

Materials and methods: Twenty-six men with KS (karyotype 47,XXY) diagnosed in the age of 15–37 years were examined for height, weight, waist circumference, BMI, testes volume and presence of gynecomastia. Spermograms of 6 patients complaining on infertility were examined.

Results: Height of 14 men with KS (53.8%) was within the limits of 180–189 cm. Eight patients (30.8%) were higher than 190 cm. Height of 4 patients (15.4%) was less than 180 cm, that is the medium height of men in Russian Federation. Twelve patients with KS (46.1%) had abdominal obesity (waist circumference more than 94 cm). These were the patients with late diagnosed KS (24 years and older) and, therefore, late start of testosterone-replacement therapy. Gynecomastia was found in 16 patients with KS (61.5%). All patients had small testicular volume (from 1 till 12 cm3) but different density of testes (from very firm till soft in 3 men and even flabby in 2 patients). We examined spermograms of 6 patients. Four of them had azoospermia and 2 had oligozoospermia of high degree.

Conclusion: The phenotype of KS patients significantly varies. All the patients with testes volume, less than 12 ml, or primary hypogonadism should pass karyotype analysis.

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