Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature

scientific article

Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature is …
instance of (P31):
case reportQ2782326
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1136/BCR-2012-007537
P932PMC publication ID4544028
P698PubMed publication ID23230250
P5875ResearchGate publication ID233892756

P2093author name stringShashank Shekhar
P2860cites workThe same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindredQ33852295
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administrationQ33855546
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthoodQ33984838
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutationsQ34059565
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.Q34093958
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadismQ37261655
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.Q42505552
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor geneQ43586016
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptorQ43633820
Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor geneQ44022898
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.Q45964826
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.Q55067328
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutationsQ73483971
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadismQ73739026
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54Q79428657
P921main subjecthypogonadismQ938107
hypogonadotropic hypogonadismQ30990102
phenotypic markerQ122020619
P577publication date2012-12-10
P1433published inBMJ case reportsQ27723081
P1476titleFamilial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature
P478volume2012

Reverse relations

Q26852830Central hypogonadotropic hypogonadism: genetic complexity of a complex diseasecites workP2860

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