Arthur Biedl
Encyclopedia
Arthur Biedl was an Hungarian pathologist born in what today is Comloşu Mic, Romania.

He studied medicine at the University of Vienna
University of Vienna
The University of Vienna is a public university located in Vienna, Austria. It was founded by Duke Rudolph IV in 1365 and is the oldest university in the German-speaking world...

, where in 1896 he received his habilitation. Later he worked as a professor in Vienna and Prague
Charles University in Prague
Charles University in Prague is the oldest and largest university in the Czech Republic. Founded in 1348, it was the first university in Central Europe and is also considered the earliest German university...

.

In 1910, Biedl published an important textbook on endocrinology
Endocrinology
Endocrinology is a branch of biology and medicine dealing with the endocrine system, its diseases, and its specific secretions called hormones, the integration of developmental events such as proliferation, growth, and differentiation and the coordination of...

 called Innere Sekretion (Internal Secretions) which was a comprehensive study on glands and their secretions.

Biedl believed that obesity
Obesity
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...

 was due to changes in the pituitary gland
Pituitary gland
In vertebrate anatomy the pituitary gland, or hypophysis, is an endocrine gland about the size of a pea and weighing 0.5 g , in humans. It is a protrusion off the bottom of the hypothalamus at the base of the brain, and rests in a small, bony cavity covered by a dural fold...

. In 1922, he described his studies of two sisters who had retinitis pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa is a group of genetic eye conditions that leads to incurable blindness. In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some...

, polydactyly
Polydactyly
Polydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....

, hypogonadism
Hypogonadism
Hypogonadism is a medical term for decreased functional activity of the gonads. Low testosterone is caused by a decline or deficiency in gonadal production of testosterone in males...

 as well as obesity. Two years earlier Georges Bardet
Georges Bardet
Georges Bardet was a French physician who is known for first describing a rare genetic disease. In his graduation thesis at the University of Paris in 1920, Bardet wrote about a medical condition characterized by obesity, retinitis pigmentosa, polydactyly and hypogonadism...

 (1885–1970) at the University of Paris
University of Paris
The University of Paris was a university located in Paris, France and one of the earliest to be established in Europe. It was founded in the mid 12th century, and officially recognized as a university probably between 1160 and 1250...

 described the same symptoms in two sisters unrelated to Biedl's findings. This syndrome is now called the Bardet-Biedl syndrome
Bardet-Biedl syndrome
The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.-Summary of the...

 after the two men.

A similar disease was originally named the "Laurence-Moon-Bardet-Biedl syndrome", together with two English physicians, John Zachariah Laurence
John Zachariah Laurence
John Zachariah Laurence was an English ophthalmologist who practiced medicine in London. He was the founder of the South London Ophthalmic Hospital in 1857, which later became known as the Royal Eye Clinic....

 (1829–1870) and Robert Charles Moon
Robert Charles Moon
Robert Charles Moon was an ophthalmologist who practiced medicine in England and the United States. He was son of William Moon , inventor of Moon type, an embossed alphabet for the blind....

 (1845–1914). Today this disease has been shortened to become the Laurence-Moon syndrome
Laurence-Moon syndrome
Laurence–Moon syndrome is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, hypogonadism and mental retardation.- Genetics : LMS is inherited in an autosomal recessive manner...

, while the Bardet-Biedl syndrome is recognized as a separate entity.

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