MCID: ISL004
MIFTS: 27

Isolated Gonadotropin-Releasing Hormone Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Isolated Gonadotropin-Releasing Hormone Deficiency

MalaCards integrated aliases for Isolated Gonadotropin-Releasing Hormone Deficiency:

Name: Isolated Gonadotropin-Releasing Hormone Deficiency 25
Idiopathic Hypogonadotropic Hypogonadism 25 70
Hypogonadism, Isolated Hypogonadotropic 70
Isolated Hypogonadotropic Hypogonadism 25
Isolated Gonadotropin Deficiency 70

Characteristics:

GeneReviews:

25
Penetrance The underlying genetic etiology typically determines the penetrance of both reproductive and non-reproductive phenotypes....

Classifications:



External Ids:

UMLS 70 C0271577 C0342384 C3489396

Summaries for Isolated Gonadotropin-Releasing Hormone Deficiency

MalaCards based summary : Isolated Gonadotropin-Releasing Hormone Deficiency, also known as idiopathic hypogonadotropic hypogonadism, is related to hypogonadotropic hypogonadism 23 without anosmia and cryptorchidism, unilateral or bilateral. An important gene associated with Isolated Gonadotropin-Releasing Hormone Deficiency is GNRH1 (Gonadotropin Releasing Hormone 1), and among its related pathways/superpathways are Inflammatory mediator regulation of TRP channels and Hormone ligand-binding receptors. The drugs Methyltestosterone and Testosterone undecanoate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and eye.

GeneReviews: NBK1334

Related Diseases for Isolated Gonadotropin-Releasing Hormone Deficiency

Diseases related to Isolated Gonadotropin-Releasing Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 23 without anosmia 31.6 GNRHR GNRH1
2 cryptorchidism, unilateral or bilateral 30.5 GNRHR GNRH1
3 hypogonadotropic hypogonadism 30.3 GNRHR GNRH1
4 hypogonadism 30.3 GNRHR GNRH1
5 hypogonadotropic hypogonadism 7 with or without anosmia 30.3 GNRHR GNRH1
6 amenorrhea 30.2 GNRHR GNRH1
7 normosmic congenital hypogonadotropic hypogonadism 30.1 GNRHR GNRH1
8 charge syndrome 30.0 GNRHR GNRH1
9 infertility 29.9 GNRHR GNRH1
10 kallmann syndrome 29.7 GNRHR GNRH1
11 renal hypodysplasia/aplasia 1 29.7 GNRHR GNRH1
12 premature menopause 29.5 GNRHR GNRH1
13 hypogonadotropic hypogonadism 8 with or without anosmia 11.6
14 hypogonadotropic hypogonadism 9 with or without anosmia 11.6
15 hypogonadotropic hypogonadism 1 with or without anosmia 11.6
16 hypogonadotropic hypogonadism 4 with or without anosmia 11.6
17 hypogonadotropic hypogonadism 5 with or without anosmia 11.6
18 hypogonadotropic hypogonadism 12 with or without anosmia 11.6
19 hypogonadotropic hypogonadism 14 with or without anosmia 11.6
20 hypogonadotropic hypogonadism 3 with or without anosmia 11.6
21 hypogonadotropic hypogonadism 6 with or without anosmia 11.6
22 hypogonadotropic hypogonadism 10 with or without anosmia 11.6
23 hypogonadotropic hypogonadism 11 with or without anosmia 11.6
24 hypogonadotropic hypogonadism 13 with or without anosmia 11.6
25 hypogonadotropic hypogonadism 15 with or without anosmia 11.6
26 hypogonadotropic hypogonadism 16 with or without anosmia 11.6
27 hypogonadotropic hypogonadism 17 with or without anosmia 11.6
28 hypogonadotropic hypogonadism 18 with or without anosmia 11.6
29 hypogonadotropic hypogonadism 19 with or without anosmia 11.6
30 hypogonadotropic hypogonadism 20 with or without anosmia 11.6
31 hypogonadotropic hypogonadism 21 with or without anosmia 11.6
32 hypogonadotropic hypogonadism 22 with or without anosmia 11.6
33 isolated congenital hypogonadotropic hypogonadism 11.5
34 hypogonadotropic hypogonadism 25 with anosmia 11.3
35 coloboma of macula 10.3
36 sexual disorder 10.3
37 male infertility 10.3
38 azoospermia 10.3
39 penis agenesis 10.3
40 hypogonadism, male 10.3
41 impotence 10.3
42 branchiootic syndrome 1 10.2
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
44 hypospadias 10.2
45 infant gynecomastia 10.2
46 gynecomastia 10.2
47 cleft lip 10.2
48 cleft lip/palate 10.2
49 chromosome 2q35 duplication syndrome 10.2
50 pituitary hormone deficiency, combined, 2 10.2

Graphical network of the top 20 diseases related to Isolated Gonadotropin-Releasing Hormone Deficiency:



Diseases related to Isolated Gonadotropin-Releasing Hormone Deficiency

Symptoms & Phenotypes for Isolated Gonadotropin-Releasing Hormone Deficiency

Drugs & Therapeutics for Isolated Gonadotropin-Releasing Hormone Deficiency

Drugs for Isolated Gonadotropin-Releasing Hormone Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4 58-18-4 6010
2
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
3
Testosterone enanthate Approved Phase 4 315-37-7 9416
4
Testosterone Approved, Investigational Phase 4 58-22-0 6013
5
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
6 Follicle Stimulating Hormone Phase 4
7 Hormones Phase 4
8 Hormone Antagonists Phase 4
9 Antineoplastic Agents, Hormonal Phase 4
10 Testosterone 17 beta-cypionate Phase 4
11 Androgens Phase 4
12 Anabolic Agents Phase 4
13 Chorionic Gonadotropin Phase 4
14
Sodium citrate Approved, Investigational Phase 2 68-04-2
15
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
16
Enclomiphene Investigational Phase 2 15690-57-0
17 Citrate Phase 2
18 Clomiphene Phase 2
19 Estrogen Receptor Modulators Phase 2
20 Zuclomiphene Phase 2
21
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
22 Estrogen Antagonists Phase 1
23 Estrogen Receptor Antagonists Phase 1
24 Estrogens Phase 1
25 insulin Phase 1
26 Aromatase Inhibitors Phase 1
27 Insulin, Globin Zinc Phase 1
28
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
29 Retinol palmitate
30 retinol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study on the Efficacy and Safety of Pulsatile Gonadotropin Releasing Hormone Pump Treatment in Patients With Idiopathic Hypogonadotropic Hypogonadism Unknown status NCT02310074 Phase 4 Pulsatile Gonadotropin Releasing Hormone;Human chorionic gonadotropin;Urinary Follicle-Stimulating Hormone
2 Effects of Three Different Medications on Metabolic Parameters and Testicular Volume in Patients With Hypogonadotropic Hypogonadism-Last Three Years Experience Completed NCT01601327 Phase 4 Testosterone enanthate (Sustanon 250 mg);Human chorionic gonadotropin (hCG) (Pregnyl 5000 IU);Testosteron gel (Testojel 50 mg)
3 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in the Treatment of Male Patients With Isolated Hypogonadotropic Hypogonadism: an Open, Randomized Controlled Study Recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
4 A Study to Evaluate the Efficacy of Androxal® in Improving Glycemic Control in Men With Secondary Hypogonadism or Adult-onset Idiopathic Hypogonadotropic Hypogonadism (AIHH) and Type 2 Diabetes Mellitus With Sub-Optimum Treatment Completed NCT01191320 Phase 2 Placebo;Androxal
5 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
6 Lipid Profile and Oxidative Stress Parameters of Patients With Idiopathic Hypogonadotropic Hypogonadism and the Change of These Parameters With Gonadotropin Replacement Therapy Completed NCT02728440 human chorionic gonadotropin, human menopausal gonadotropin
7 Plasma RBP Levels in Patients With Idiopathic Hypogonadotrophic Hypogonadism Completed NCT01758094 Sustanon 250 mg ampule (Testosterone esters)
8 The Effects of Gonadotropin Replacement Therapy in Patients With Hypogonadism Completed NCT02042638 hCG 1500 IU three times a week;Pregnyl (hCG) ampule 1500 IU/three times a week
9 Detailed Clinical, Biochemical and Genetic Characterization in GnRH Deficiency Disorders Terminated NCT01165619

Search NIH Clinical Center for Isolated Gonadotropin-Releasing Hormone Deficiency

Genetic Tests for Isolated Gonadotropin-Releasing Hormone Deficiency

Anatomical Context for Isolated Gonadotropin-Releasing Hormone Deficiency

MalaCards organs/tissues related to Isolated Gonadotropin-Releasing Hormone Deficiency:

40
Pituitary, Bone, Eye, Heart, Liver, Testis, Olfactory Bulb

Publications for Isolated Gonadotropin-Releasing Hormone Deficiency

Articles related to Isolated Gonadotropin-Releasing Hormone Deficiency:

(show top 50) (show all 431)
# Title Authors PMID Year
1
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. 61 25
27512013 2017
2
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. 61 25
27086651 2016
3
Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. 61 25
24476074 2014
4
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. 61 25
24423288 2014
5
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. 61 25
22072740 2012
6
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 25 61
21700882 2011
7
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 25 61
21300340 2011
8
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 61 25
20887964 2010
9
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. 25 61
20696889 2010
10
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. 25 61
20332248 2010
11
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes. 61 25
20382682 2010
12
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. 61 25
19707180 2009
13
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 25 61
19567835 2009
14
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 61 25
19535795 2009
15
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 25 61
19021638 2009
16
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 25 61
18834967 2008
17
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 25 61
18559922 2008
18
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 25 61
18596921 2008
19
The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 61 25
18463157 2008
20
Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function. 25 61
17710733 2007
21
Reversal of idiopathic hypogonadotropic hypogonadism. 25 61
17761590 2007
22
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. 61 25
17074994 2006
23
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 25 61
16764984 2006
24
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 25 61
16606836 2006
25
The GPR54 gene as a regulator of puberty. 61 25
14573733 2003
26
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism. 25 61
12213860 2002
27
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. 25 61
11788640 2002
28
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. 61 25
11397842 2001
29
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 25 61
11297579 2001
30
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. 61 25
9793755 1998
31
Adult-onset idiopathic hypogonadotropic hypogonadism--a treatable form of male infertility. 25 61
9010147 1997
32
The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. 25 61
8954047 1996
33
Clinical review 4: Diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men. 25 61
2403572 1990
34
The spectrum of abnormal patterns of gonadotropin-releasing hormone secretion in men with idiopathic hypogonadotropic hypogonadism: clinical and laboratory correlations. 61 25
3098771 1987
35
Induction of puberty in men by long-term pulsatile administration of low-dose gonadotropin-releasing hormone. 61 25
6813732 1982
36
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. 25
27014940 2016
37
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment. 25
26194704 2015
38
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. 25
25985275 2015
39
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. 25
25559402 2015
40
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation. 25
26228106 2015
41
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25
25472840 2014
42
Mutations in FEZF1 cause Kallmann syndrome. 25
25192046 2014
43
Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism. 25
24037890 2013
44
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. 25
23643381 2013
45
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. 25
23656588 2013
46
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 25
23643382 2013
47
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 25
23533228 2013
48
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. 25
23378218 2013
49
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). 25
22745237 2012
50
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 25
22927827 2012

Variations for Isolated Gonadotropin-Releasing Hormone Deficiency

Expression for Isolated Gonadotropin-Releasing Hormone Deficiency

Search GEO for disease gene expression data for Isolated Gonadotropin-Releasing Hormone Deficiency.

Pathways for Isolated Gonadotropin-Releasing Hormone Deficiency

Pathways related to Isolated Gonadotropin-Releasing Hormone Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.24 GNRHR GNRH1
2 9.74 GNRHR GNRH1

GO Terms for Isolated Gonadotropin-Releasing Hormone Deficiency

Sources for Isolated Gonadotropin-Releasing Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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