Myotonic Dystrophy Type 1 Presenting as Male Infertility
نویسندگان
چکیده
Myotonic dystrophy 1 (DM1) is a multi-system disorder characterized by endocrine defects that include testicular and tubular atrophy, oligospermia and azoospermia, and increased follicle-stimulating hormone levels. We describe a rare case of DM1 presenting as infertility in a 29-year-old man.
منابع مشابه
MINIREVIEW: Repeat-mediated epigenetic changes -1- CHROMATIN REMODELING IN THE NON-CODING REPEAT EXPANSION DISEASES
Friedreich ataxia, myotonic dystrophy type 1, and 3 forms of intellectual disability, Fragile X syndrome, FRAXE mental retardation and FRA12A mental retardation are Repeat Expansion Diseases caused by expansion of CTG•CAG, GAA•TTC, or CGG•CCGrepeat tracts. These repeats are transcribed, but not translated. They are located in different parts of different genes and cause symptoms that range from...
متن کاملClinical evidence for heterogeneity in myotonic dystrophy.
In a study of 35 index patients who developed myotonic dystrophy between birth and 30 years (neonatal cases aware excluded), 30 could be categorised into two clinical types. The 13 type 1 patients had a more severe limb weakness, of patchy distribution, associated with proportional facial weakness. The 17 type 2 patients had a milder and more diffuse limb weakness; their facial weakness, howeve...
متن کاملInfertile Males with Muscle Weakness: Keep Your Eyes Open for Myotonic Dystrophy.
Male factor infertility affects approximately 1 in 20 men and is the responsible factor in almost half of the couples undergoing assisted reproductive treatments (ARTs). The most common presentation is oligozoospermia, as defined by a sperm concentration less than 15 million/ml [1]. Though idiopathic spermatogenetic disorders are the underlying cause of oligozoospermia in majority, it may occur...
متن کاملA tell tale handshake
Myotonic dystrophy is a group of inherited disorders called muscular dystrophies. Clinical presentation of this disease is characterised by progressive muscle weakness with myotonia, cataracts, infertility (in males) and cardiac conduction defects. We present a case of a 35 year old male with lung abscess, later diagnosed to be a case of myotonic dystrophy. Lung abscess is an uncommon presentat...
متن کاملMyasthenia gravis and thymoma coexisting with myotonic dystrophy type 1
We describe a 34-year old man presenting with subacute generalized myasthenic symptoms. His clinical features and laboratory investigations demonstrated both myasthenia gravis and myotonic dystrophy type 1. The computerized tomography of chest revealed anterior mediastinal mass. The lymphocyte-rich thymoma was removed surgically and he received radiotherapy. Recent observations suggested that t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 53 شماره
صفحات -
تاریخ انتشار 2012