MCID: ISL004
MIFTS: 28

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 74
Hypogonadism, Isolated Hypogonadotropic 74
Isolated Hypogonadotropic Hypogonadism 25
Isolated Gonadotropin Deficiency 74

Characteristics:

GeneReviews:

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

Classifications:



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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 7 with or without anosmia and hypogonadotropic hypogonadism. An important gene associated with Isolated Gonadotropin-Releasing Hormone Deficiency is GNRH1 (Gonadotropin Releasing Hormone 1). The drugs Methyltestosterone and Testosterone undecanoate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and bone.

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 all 45)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 12.5
2 hypogonadotropic hypogonadism 11.8
3 kallmann syndrome 11.8
4 normosmic congenital hypogonadotropic hypogonadism 11.7
5 hypogonadotropic hypogonadism 2 with or without anosmia 11.7
6 hypogonadotropic hypogonadism 3 with or without anosmia 11.7
7 hypogonadotropic hypogonadism 1 with or without anosmia 11.7
8 hypogonadotropic hypogonadism 4 with or without anosmia 11.7
9 hypogonadotropic hypogonadism 5 with or without anosmia 11.7
10 hypogonadotropic hypogonadism 6 with or without anosmia 11.7
11 hypogonadotropic hypogonadism 8 with or without anosmia 11.7
12 hypogonadotropic hypogonadism 9 with or without anosmia 11.7
13 hypogonadotropic hypogonadism 10 with or without anosmia 11.7
14 hypogonadotropic hypogonadism 11 with or without anosmia 11.7
15 hypogonadotropic hypogonadism 12 with or without anosmia 11.7
16 hypogonadotropic hypogonadism 13 with or without anosmia 11.7
17 hypogonadotropic hypogonadism 14 with or without anosmia 11.7
18 hypogonadotropic hypogonadism 15 with or without anosmia 11.7
19 hypogonadotropic hypogonadism 16 with or without anosmia 11.7
20 hypogonadotropic hypogonadism 17 with or without anosmia 11.7
21 hypogonadotropic hypogonadism 18 with or without anosmia 11.7
22 hypogonadotropic hypogonadism 19 with or without anosmia 11.7
23 hypogonadotropic hypogonadism 20 with or without anosmia 11.7
24 hypogonadotropic hypogonadism 21 with or without anosmia 11.7
25 hypogonadotropic hypogonadism 22 with or without anosmia 11.7
26 hypogonadism 11.1
27 hypogonadotropism 10.9
28 infertility 10.2
29 cat eye syndrome 10.1
30 osteoporosis 10.1
31 pituitary hormone deficiency, combined, 2 10.1
32 liver disease 10.1
33 male infertility 10.1
34 nonalcoholic fatty liver disease 10.1
35 premature ejaculation 10.1
36 fatty liver disease 10.1
37 anorchia 10.1
38 precocious puberty 10.1
39 central precocious puberty 10.1
40 combined pituitary hormone deficiency 10.1
41 wolff-parkinson-white syndrome 10.1
42 microphthalmia 10.1
43 graves' disease 10.1
44 gonadal dysgenesis 10.1
45 movement disease 10.1

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 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4,Phase 1 58-18-4 6010
2
Testosterone undecanoate Approved, Investigational Phase 4,Phase 1 5949-44-0
3
Testosterone Approved, Experimental, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 58-22-0, 481-30-1 6013 10204
4
Testosterone enanthate Approved Phase 4,Phase 1 315-37-7 9416
5 Chorionic Gonadotropin Phase 4
6 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
7 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
8 Follicle Stimulating Hormone Phase 4,Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
10 Testosterone 17 beta-cypionate Phase 4,Phase 1
11 Antineoplastic Agents, Hormonal Phase 4,Phase 1
12 Anabolic Agents Phase 4,Phase 1
13 Androgens Phase 4,Phase 1
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 Zuclomiphene Phase 2
18 Estrogen Receptor Antagonists Phase 2,Phase 1
19 Clomiphene Phase 2
20 Estrogen Antagonists Phase 2,Phase 1
21 Citrate Phase 2
22 Selective Estrogen Receptor Modulators Phase 2
23 Fertility Agents Phase 2
24 Estrogens Phase 2,Phase 1
25 Estrogen Receptor Modulators Phase 2
26
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
27 Steroid Synthesis Inhibitors Phase 1,Not Applicable
28 Aromatase Inhibitors Phase 1
29 Hypoglycemic Agents Phase 1
30 Insulin, Globin Zinc Phase 1
31 insulin Phase 1
32
Menotropins Approved 9002-68-0, 61489-71-2 5360545
33
Ketoconazole Approved, Investigational Not Applicable 65277-42-1 47576
34
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
35
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
36 Retinol palmitate
37 retinol
38 Cytochrome P-450 CYP3A Inhibitors Not Applicable
39 Cytochrome P-450 Enzyme Inhibitors Not Applicable
40 Anti-Infective Agents Not Applicable
41 Antifungal Agents Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 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 Medications in Patients With Hypogonadism Completed NCT01601327 Phase 4 Testosterone enanthate (Sustanon 250 mg);Human chorionic gonadotropin (hCG) (Pregnyl 5000 IU);Testosteron gel (Testojel 50 mg)
3 Study to Evaluate the Efficacy of Androxal in Controlling Blood Glucose in Men With Type-2 Diabetes Mellitus Completed NCT01191320 Phase 2 Placebo;Androxal
4 Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With Hypogonadism Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
5 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
6 Effects of Gonadotropin Replacement Therapy on Metabolic Parameters in Patients With Hypogonadism 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 Health Needs of Patients With Kallmann Syndrome Completed NCT01914172
10 Investigating the Regulation of Reproductive Hormones in Adult Men Completed NCT00392457 Not Applicable ketoconazole;gonadotropin releasing hormone (GnRH)
11 Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS) Recruiting NCT00392756 Not Applicable gonadotropin releasing hormone (GnRH)
12 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
13 Baselines in Reproductive Disorders Recruiting NCT00456274 Not Applicable
14 Inherited Reproductive Disorders Recruiting NCT01500447
15 Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism Active, not recruiting NCT00493961 Not Applicable gonadotropin releasing hormone (GnRH)
16 Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (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:

42
Pituitary, Brain, Bone, Heart, Eye, Prostate, Testis

Publications for Isolated Gonadotropin-Releasing Hormone Deficiency

Articles related to Isolated Gonadotropin-Releasing Hormone Deficiency:

(show top 50) (show all 142)
# Title Authors Year
1
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation ( 30905142 )
2019
2
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings. ( 29777911 )
2018
3
The role of ADAMTS4 and ADAMTS9 in cardiovascular disease in premature ovarian insufficiency and idiopathic hypogonadotropic hypogonadism. ( 30187439 )
2018
4
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30216942 )
2018
5
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. ( 30430143 )
2018
6
Prevalence and Associated Phenotypes of PLXNA1 Variants in Normosmic and Anosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30467832 )
2018
7
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling. ( 30576231 )
2018
8
Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism. ( 29018155 )
2017
9
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male. ( 28583920 )
2017
10
Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency. ( 29264451 )
2017
11
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. ( 29280744 )
2017
12
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. ( 28324054 )
2017
13
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ( 27086651 )
2016
14
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. ( 26595427 )
2016
15
Evaluation of Basal Serum Adrenocorticotropic Hormone and Cortisol Levels and Their Relationship with Nonalcoholic Fatty Liver Disease in Male Patients with Idiopathic Hypogonadotropic Hypogonadism. ( 27174321 )
2016
16
Kisspeptin levels in idiopathic hypogonadotropic hypogonadism diagnosed male patients and its relation with glucose-insulin dynamic. ( 27616469 )
2016
17
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. ( 25262569 )
2015
18
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. ( 26207952 )
2015
19
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
20
Sequential versus Continual Purified Urinary FSH / hCG in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 25825944 )
2015
21
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
22
Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients. ( 25783047 )
2015
23
The Effects of Gonadotropin Replacement Therapy on Metabolic Parameters and Body Composition in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 26485362 )
2015
24
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
25
Effects of androgen replacement therapy on cornea and tear function in men with idiopathic hypogonadotropic hypogonadism. ( 25812631 )
2015
26
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. ( 25636053 )
2015
27
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance. ( 26629483 )
2015
28
Hormonal therapy (hCG and rhFSH) for infertile men with adult-onset idiopathic hypogonadotropic hypogonadism. ( 25518839 )
2015
29
Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients. ( 25578938 )
2015
30
An idiopathic hypogonadotropic hypogonadism patient with metabolic disorder and diabetes: case report. ( 25337838 )
2014
31
Effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with idiopathic hypogonadotropic hypogonadism. ( 25280063 )
2014
32
Clinical pregnancy in a woman with idiopathic hypogonadotropic hypogonadism and low AMH: utility of ovarian reserve markers in IHH. ( 25113621 )
2014
33
Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism. ( 25226293 )
2014
34
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1. ( 25501157 )
2014
35
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935 )
2013
36
A network investigation on idiopathic hypogonadotropic hypogonadism in china. ( 24385983 )
2013
37
Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism. ( 24083166 )
2013
38
[Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism]. ( 24002956 )
2013
39
An objective olfactory evaluation and its correlation with magnetic resonance imaging findings in Asian Indian patients with idiopathic hypogonadotropic hypogonadism. ( 23512393 )
2013
40
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250 )
2012
41
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261 )
2012
42
Long-term outcome of idiopathic hypogonadotropic hypogonadism. ( 22499222 )
2012
43
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23585175 )
2012
44
Role of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma. ( 24397058 )
2012
45
Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism. ( 23155690 )
2012
46
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. ( 22072740 )
2012
47
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23096908 )
2012
48
Serum anti-Mullerian hormone levels correlate with ovarian response in idiopathic hypogonadotropic hypogonadism. ( 22547042 )
2012
49
Impact of long-term gonadotropin replacement treatment on sleep in men with idiopathic hypogonadotropic hypogonadism. ( 21143417 )
2011
50
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. ( 21856375 )
2011

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

GO Terms for Isolated Gonadotropin-Releasing Hormone Deficiency

Sources for Isolated Gonadotropin-Releasing Hormone Deficiency

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