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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.
Hemolytic–uremic syndrome: Horner's Syndrome Triad: ptosis (eyelid), miosis, anhydrosis: Horner's syndrome: Hutchinson's triad: Hutchison's teeth, Interstitial keratitis, Nerve deafness: Congenital syphilis: Kartagener Syndrome Triad: Triad of bronchiectasis, Recurrent sinusitis, and, Situs inversus, Kartagener syndrome: Leriche's syndrome Triad
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.
Absence or damage to the protein results in Kallmann syndrome in humans, which is characterized by loss of olfactory bulbs and GnRH secretion leading to anosmia and hypothalamic hypogonadotropic hypogonadism. Anosmin-1 is coded by the KAL-1 gene, which is found on the X chromosome. Anosmin-1 is 100 kilodaltons and is expressed on the outside of ...
This condition can occur in isolation or as part of a syndrome, such as Kallmann syndrome or CHARGE syndrome. [11] There is no known cure for congenital anosmia. Management focuses on safety precautions to mitigate risks associated with the inability to smell, such as not detecting smoke or gas leaks. [10]
Kallmann syndrome; X-linked recessive chondrodysplasia punctata; Microphthalmia with linear skin defects (MLS) This condition is characterised by microphthalmia, corneal opacities, and patches of erythematous skin in the head and neck of female patients. The gene involved is located very closely to the OA1 gene loci on the X chromosome.
Pasqualini syndrome [39] [40] Kallmann syndrome; Hypothalamic suppression; Hypopituitarism; Eating disorder; Female athlete triad; Hyperprolactinemia; Hypogonadism; Gonadal suppression therapy GnRH antagonist; GnRH agonist (inducing an initial stimulation (flare up) followed by permanent blockage of the GnRH pituitary receptor)