PMID: 29770362May 18, 2018Paper

Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
Manuela ErgoliLuisa Politano

Abstract

Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Anti-Müllerian hormone (AMH) - a dimeric glycoprotein belonging to the super-family of transforming grow factor beta (TGF-beta) - is the earliest Sertoli cell hormone secreted in males and, together with inhibin B and FSH, is an important indicator of Sertoli cell function. AMH levels remain high during the whole prepubertal phase and are down-regulated in puberty by the increasing testosterone levels. Aims of the work were to assess the AMH levels in 50 patients with Myotonic Dystrophy type 1 aged less 50 years and to investigate whether it may contribute to the endocrine function impairment observed in these patients. The results confirmed a reduction of testosterone levels associated with an increase in Luteinizing Hormone (LH) and FSH compared to controls, suggesting a reduced functio...Continue Reading

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