Cytogenetics and molecular genetics

Dieter Meschede and Frank Tüttelmann

in Oxford Textbook of Endocrinology and Diabetes

Second edition

Published on behalf of Oxford University Press

Published in print July 2011 | ISBN: 9780199235292
Published online July 2011 | e-ISBN: 9780199608232 | DOI:

Series: Oxford Textbooks

Cytogenetics and molecular genetics

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Genetic aberrations are important causes of spermatogenic and endocrine testicular failure. Often, clinical skills are insufficient to demonstrate the primary genetic nature of a gonadal disorder, and cytogenetic and molecular tests should be considered for the diagnostic process (Table (1–7). They are helpful, not only for establishing the basic aetiology of certain types of male endocrine disturbances, but also in that karyotyping and some DNA tests have attained a pivotal role in genetic risk counselling for severely infertile couples. Also, the diagnosis of a chromosomal abnormality or single gene mutation in an infertile man can have repercussions for other members of his family. They may carry the same type of genetic aberration, and thus be at increased risk for inadvertent reproductive outcomes.

The most time-honoured method in male endocrinology is the analysis of banded metaphase chromosome preparations from blood lymphocytes, which remains of undiminished practical importance (8, 9). This technique allows for the direct visualization of the complete set of chromosomes in a somatic cell lineage and provides information on both chromosome number and structure. However, a regular karyotype in somatic cells, such as lymphocytes, does not necessarily translate into normal meiotic pairing and segregation of the chromosomes in the germ cell lineage. Meiotic cell preparations and ejaculated spermatozoa may thus be included in the diagnostic work-up of an infertile man. The place of these techniques is more in the realm of research than of daily clinical practice, as discussed below. In contrast, several molecular genetic tests are firmly established as valuable diagnostic tools. Details concerning the two most important tests, mutation analysis of the CFTR gene and screening for Y-chromosomal microdeletions, are given below.

Chapter.  4200 words.  Illustrated.

Subjects: Endocrinology and Diabetes

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