Search results
Results From The WOW.Com Content Network
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism . [ 1 ]
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. To date, at least 25 different genes have been implicated in causing gonadotropin-releasing hormone (GnRH) deficiency conditions such as Kallmann syndrome (KS) or other forms of congenital hypogonadotropic hypogonadism (CHH) through a disruption in the production or activity of GnRH.
Another clinical sign of CHH, more specifically Kallmann syndrome, is a lack of a sense of smell due to the altered migration of GnRH neurons on the olfactory placode. Kallmann syndrome can also be shown through MRI imaging with irregular morphology or aplasia of the olfactory bulb and olfactory sulci.
Kallmann syndrome. This genetic condition refers to an abnormally developed hypothalamus, which can affect the secretion of pituitary hormones. Affected patients typically have an underdeveloped ...
Kallmann syndrome; Klinefelter syndrome; Turner syndrome; Acquired disorders Ovarian failure (also known as Premature Menopause) Testicular failure. Testosterone deficiency myopathy [6] Disorders of Puberty Delayed puberty; Precocious puberty; Menstrual function or fertility disorders Amenorrhea; Polycystic ovary syndrome (PCOS)
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. [3] [7] [8] The onset of muscle weakness typically begins around age four, with rapid progression. [2]
In 1944, he described a congenital endocrine condition (hypogonadotropic hypogonadism with anosmia) that has come to be known as Kallmann's syndrome. He was a member of the American Eugenics Movement during the first half of 1900. [6] [7] In 1948, he became one of the founders of the American Society of Human Genetics. [4] He died in New York.
In human it is located on the X chromosome at Xp22.3 and is affected in some male individuals with Kallmann syndrome. [2] This gene codes for a protein of the extracellular matrix named anosmin-1, which is involved in the migration of certain nerve cell precursors (neuroendocrine GnRH cells) during embryogenesis .