Idiopathic hypogonadotropic hypogonadism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Six of the twelve subjects had an identified genetic cause of their IHH: KAL1 (n = 1), FGFR1 (n = 3), PROKR2 (n = 1), GNRHR (n = 1).
|
25226293 |
2014 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We detected that of the 86 patients, three with KS had a deletion of the KAL1 gene in exon 9, one of whom also carried a duplicationin exon 11; and three with nIHH had a duplication of the PROK2 gene in exon 3; a deletion of the GNRHR gene in exon 1; anda duplication of the same gene in exon 2, respectively.
|
24002956 |
2013 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic factors influence response to therapy and patients with KAL1 mutations tend to have less favourable outcomes as they may have defects in multiple levels of the hypothalamic-pituitary-gonadal axis.Androgen replacement is warranted in all IHH patients after usual chronological age of puberty, and poor treatment compliance is associated with lower bone mineral density and higher fat mass.
|
22499222 |
2012 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic experiments in Caenorhabditis elegans reveal that HS cell-specifically regulates neural branching in vivo in concert with other IHH-associated genes, including kal-1, the FGF receptor, and FGF.
|
21700882 |
2011 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
Biomarker
|
disease |
BEFREE |
DNA from IHH/KS patients was subjected to polymerase chain reaction-based DNA sequencing of the 13 most common genes (KAL1, GNRHR, FGFR1, KISS1R, TAC3, TACR3, FGF8, PROKR2, PROK2, CHD7, NELF, GNRH1, and WDR11).
|
22035731 |
2011 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Fifty-four IHH/KS patients were studied for KAL1 deletions and 100 were studied for an autosomal panel of FGFR1, GNRH1, GNRHR, GPR54 and NELF gene deletions.
|
18463157 |
2008 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
KS is a genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia, and is most commonly due to KAL1 or FGFR1 mutations.
|
18834967 |
2008 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
Biomarker
|
disease |
BEFREE |
The molecular basis of IHH/KS is reviewed, with particular emphasis on the three most common genes ( KAL1, FGFR1, and GNRHR) that possess mutations in these patients.
|
17594608 |
2007 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic hypogonadotropic hypogonadism with normal olfaction (nIHH).
|
16606836 |
2006 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The objective was to investigate genetic defects in the KAL1 and FGFR1 genes in patients with congenital isolated hypogonadotropic hypogonadism (IHH).
|
16882753 |
2006 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
IHH associated with impaired olfactory function (Kallmann syndrome) may be caused by mutations of the X-chromosomal KAL1 (encoding anosmin) or the fibroblast growth factor receptor 1 genes (FGFR1), both leading to agenesis of olfactory and GnRH-secreting neurons.
|
15722618 |
2005 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, the molecular study of the coding region of the KAL gene (exon 5 to 14) in 10 unrelated females with KS (n=6) or IHH (n=4) is reported.
|
15004876 |
2004 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We examined 101 individuals with IHH (+/- anosmia) and their families to determine their modes of inheritance, incidence of mutations in the coding sequence of KAL, genotype-phenotype correlations, and [in a subset (n = 38)] their neuroendocrine phenotype.
|
11297579 |
2001 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To date, 4 genes have been identified as causes of IHH in the human; KAL [the gene for X-linked Kallmann syndrome (IHH and anosmia)], DAX1 [the gene for X-linked adrenal hypoplasia congenita (IHH and adrenal insufficiency)], GNRHR (the GnRH receptor), and PC1 (the gene for prohormone convertase 1, causing a syndrome of IHH and defects in prohormone processing).
|
11079449 |
2000 |
Idiopathic hypogonadotropic hypogonadism
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|