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X-linked adult form of spinal muscular atrophy

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Summary

Neurological and endocrinological studies were carried out in 8 of 12 male patients with X-linked spinal muscular atrophy. In six investigated cases, gynaecomastia was discovered. First muscle symptoms started between 21 and 44 years of age, at which time the patients observed disturbances in their sexual life. In three cases decreased fertility and in two cases sterility was reported. Diagnostic testicular biopsy showed pronounced involutional changes of the Leydig cells. The plasma testosterone level was decreased, while the levels of luteinizing hormone and prolactine were normal, and the follicle stimulating hormone was at a high normal level. The dexamethasone/human chorionic gonadotrophin test revealed a pronounced decrease in the functional reserve of the Leydig cells. It is suggested that all these anomalies are connected with an increased ratio of oestrogen to androgen level.

Zusammenfassung

Bei acht von zwölf männlichen Patienten mit X-chromosomaler spinaler Muskelatrophie wurden neurologische und endokrinologische Untersuchungen durchgeführt. In sechs der untersuchten Fälle fand sich eine Gynäkomastie. Die ersten Muskelsymptome manifestierten sich im Alter zwischen 21 und 44 Jahren. Zu diesem Zeitpunkt beobachteten die Patienten zunächst Störungen der Sexualsphäre. In drei Fällen war eine verminderte Fertilität und in zwei Fällen eine Sterilität vorhanden. Die diagnostische Hodenbiopsie zeigte ausgeprägte involutive Veränderungen der Zwischenzellen. Das Plasmatestosteron war vermindert, die Konzentration des LH und des PRL waren normal, das FSH an der oberen Normgrenze. Der Dexamethason/HCG-Test zeigte eine ausgesprochene Verminderung in der funktionellen Reserve der Leydigschen Zellen. Es wird vermutet, daß alle diese Anomalien im Zusammenhang mit einem erhöhten Oestrogen/Androgen-Niveau stehen.

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Authors and Affiliations

  1. Department of Neurology, Medical School, Lindleya 4, 02-005, Warsaw, Poland

    I. Hausmanowa-Petrusewicz & J. Borkowska

  2. Department of Obstetrics, Medical School, Warsaw, Poland

    Z. Janczewski

Authors
  1. I. Hausmanowa-Petrusewicz
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  2. J. Borkowska
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  3. Z. Janczewski
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Additional information

This work was supported by Research Project No. 10.4.2.02./5.1 of the Polish Academy of Sciences

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Hausmanowa-Petrusewicz, I., Borkowska, J. & Janczewski, Z. X-linked adult form of spinal muscular atrophy. J Neurol 229, 175–188 (1983). https://doi.org/10.1007/BF00313741

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  • DOI: https://doi.org/10.1007/BF00313741

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