Disease relevance of Kallmann Syndrome

• Mutations in KAL-1 and its encoded protein anosmin-1, causes X-linked Kallmann's syndrome (XKS) characterized by IHH, anosmia, synkinesis, and unilateral renal agenesis [1].
• X-linked Kallmann's syndrome (KS) is a genetic disease characterized by anosmia and hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GnRH)-producing neurons [2].
• Pulsatile GnRH therapy may be used to stimulate testosterone production and spermatogenesis in men with secondary hypogonadism who have hypothalamic defects, such as idiopathic hypogonadotropic hypogonadism or Kallmann's syndrome [3].
• The third patient with Kallmann's syndrome and the boy with delayed puberty, both with normal delta LH, presented normal serum testosterone after 3 months of subcutaneous low-dose treatment [4].

High impact information on Kallmann Syndrome

• Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons [5].
• Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome [6].
• Kallmann's syndrome associated with atrial septal defect [7].
• X-linked Kallmann syndrome represents the first example in vertebrates of a neuronal migration defect for which the gene has been isolated [8].
• The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons [2].

Chemical compound and disease context of Kallmann Syndrome

• Altered osmotic threshold for vasopressin release and impaired thirst sensation: additional abnormalities in Kallmann's syndrome [9].
• It is unlikely that nocturnal melatonin can be implicated in the etiology of the GnRH deficiency of Kallmann's syndrome (KS), because this condition is caused by defective neuronal migration in embryonic life [10].
• Dissociation of prolactin responsiveness to thyrotropin-releasing hormone and chlorpromazine in a female with Kallmann's syndrome [11].
• L-5-hydroxytryptophan had no effect on LH in patients with Kallmann's syndrome [12].
• The predictive value of double Gn-RH provocation test in unprimed Gn-RH-primed and steroid-primed female patients with Kallmann's syndrome [13].

Biological context of Kallmann Syndrome

• The KAL gene is responsible for the X-chromosome linked form of Kallmann's syndrome in humans [14].
• A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome [15].
• Osmoregulation of thirst and vasopressin secretion in Kallmann's syndrome [16].
• Successful induction ovulation and completed pregnancy using recombinant human luteinizing hormone and follicle stimulating hormone in a woman with Kallmann's syndrome [17].
• Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family [18].

Anatomical context of Kallmann Syndrome

• X-linked Kallmann syndrome (X-KS), characterized by failed gonadal function secondary to deficient gonadotropin secretion, is caused by a mutation in KAL1, which is suggested to regulate the migration of forebrain GnRH neurons [19].

Gene context of Kallmann Syndrome

• Mutation analysis of the EMX2 gene in Kallmann's syndrome [20].
• The prolactin response to TRH in a group of patients with Kallmann's syndrome was found to be significantly lower compared to a group of hypergonadotrophic hypogonadal patients [21].
• Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator [22].
• The FSH response to exogenous LHRH in prepubertal girls was significantly greater than that in patients with Kallmann's syndrome and prepubertal boys, but LH responses were not different [23].
• Results showed a male fetus with a deleted steroid sulfatase region, but intact Kallmann syndrome region in all three cases [24].

References