MCID: ISL004
MIFTS: 26

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 24
Idiopathic Hypogonadotropic Hypogonadism 24 73
Hypogonadism, Isolated Hypogonadotropic 73
Isolated Hypogonadotropic Hypogonadism 24
Isolated Gonadotropin Deficiency 73

Characteristics:

GeneReviews:

24
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 kallmann syndrome and hypogonadotropic hypogonadism 7 with or without anosmia. An important gene associated with Isolated Gonadotropin-Releasing Hormone Deficiency is GNRH1 (Gonadotropin Releasing Hormone 1). The drugs Testosterone undecanoate and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and hypothalamus.

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 11)
# Related Disease Score Top Affiliating Genes
1 kallmann syndrome 11.4
2 hypogonadotropic hypogonadism 7 with or without anosmia 11.3
3 hypogonadotropic hypogonadism 24 without anosmia 11.1
4 hypogonadotropic hypogonadism 10.7
5 hypogonadism 10.7
6 hypogonadotropism 10.7
7 wolff-parkinson-white syndrome 9.9
8 microphthalmia 9.9
9 gonadal dysgenesis 9.9
10 hypothalamic disease 9.9
11 precocious puberty 9.9

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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone undecanoate Approved, Investigational Phase 4,Phase 1 5949-44-0
2
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 58-22-0 6013
3
Methyltestosterone Approved Phase 4,Phase 1 58-18-4 6010
4
Testosterone enanthate Approved Phase 4,Phase 1 315-37-7 9416
5 Follicle Stimulating Hormone Phase 4,Phase 2
6 Chorionic Gonadotropin Phase 4
7 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
8 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
10 Anabolic Agents Phase 4,Phase 1
11 Testosterone 17 beta-cypionate Phase 4,Phase 1
12 Androgens Phase 4,Phase 1
13 Antineoplastic Agents, Hormonal Phase 4,Phase 1
14
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15
Enclomiphene Investigational Phase 2 15690-57-0
16 Clomiphene Phase 2
17 Fertility Agents Phase 2
18 Selective Estrogen Receptor Modulators Phase 2
19 Estrogen Antagonists Phase 2,Phase 1
20 Estrogen Receptor Modulators Phase 2
21 Estrogens Phase 2,Phase 1
22 Zuclomiphene Phase 2
23 Citrate Nutraceutical Phase 2
24
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
25 Steroid Synthesis Inhibitors Phase 1,Not Applicable
26 insulin Phase 1
27 Hypoglycemic Agents Phase 1
28 Insulin, Globin Zinc Phase 1
29 Aromatase Inhibitors Phase 1
30
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
31
Ketoconazole Approved, Investigational Not Applicable 65277-42-1 47576 3823
32
Menotropins Approved 61489-71-2, 9002-68-0 5360545
33
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
34 Retinol palmitate
35 Cytochrome P-450 CYP3A Inhibitors Not Applicable
36 Cytochrome P-450 Enzyme Inhibitors Not Applicable
37 Anti-Infective Agents Not Applicable
38 Antifungal Agents Not Applicable
39 retinol Nutraceutical

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:

41
Pituitary, Testes, Hypothalamus, Testis, Prostate, Heart, Liver

Publications for Isolated Gonadotropin-Releasing Hormone Deficiency

Articles related to Isolated Gonadotropin-Releasing Hormone Deficiency:

(show top 50) (show all 93)
# Title Authors Year
1
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings. ( 29777911 )
2018
2
Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism. ( 29018155 )
2017
3
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male. ( 28583920 )
2017
4
Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency. ( 29264451 )
2017
5
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. ( 29280744 )
2017
6
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. ( 28324054 )
2017
7
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ( 27086651 )
2016
8
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. ( 26595427 )
2016
9
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
10
Kisspeptin levels in idiopathic hypogonadotropic hypogonadism diagnosed male patients and its relation with glucose-insulin dynamic. ( 27616469 )
2016
11
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
12
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. ( 26207952 )
2015
13
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
14
Sequential versus Continual Purified Urinary FSH / hCG in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 25825944 )
2015
15
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
16
Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients. ( 25783047 )
2015
17
The Effects of Gonadotropin Replacement Therapy on Metabolic Parameters and Body Composition in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 26485362 )
2015
18
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
19
Effects of androgen replacement therapy on cornea and tear function in men with idiopathic hypogonadotropic hypogonadism. ( 25812631 )
2015
20
An idiopathic hypogonadotropic hypogonadism patient with metabolic disorder and diabetes: case report. ( 25337838 )
2014
21
Effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with idiopathic hypogonadotropic hypogonadism. ( 25280063 )
2014
22
Clinical pregnancy in a woman with idiopathic hypogonadotropic hypogonadism and low AMH: utility of ovarian reserve markers in IHH. ( 25113621 )
2014
23
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935 )
2013
24
A network investigation on idiopathic hypogonadotropic hypogonadism in china. ( 24385983 )
2013
25
Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism. ( 24083166 )
2013
26
[Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism]. ( 24002956 )
2013
27
An objective olfactory evaluation and its correlation with magnetic resonance imaging findings in Asian Indian patients with idiopathic hypogonadotropic hypogonadism. ( 23512393 )
2013
28
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250 )
2012
29
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261 )
2012
30
Long-term outcome of idiopathic hypogonadotropic hypogonadism. ( 22499222 )
2012
31
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23585175 )
2012
32
Role of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma. ( 24397058 )
2012
33
Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism. ( 23155690 )
2012
34
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. ( 22072740 )
2012
35
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23096908 )
2012
36
Impact of long-term gonadotropin replacement treatment on sleep in men with idiopathic hypogonadotropic hypogonadism. ( 21143417 )
2011
37
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. ( 21856375 )
2011
38
Effects of substitutive therapy on right ventricular systolic and diastolic functions in patients with idiopathic hypogonadotropic hypogonadism. ( 20820132 )
2011
39
[Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism]. ( 21351529 )
2011
40
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. ( 20696889 )
2010
41
Adult-onset idiopathic hypogonadotropic hypogonadism: possible aetiology, clinical manifestations and management. ( 20531282 )
2010
42
Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer. ( 20079901 )
2010
43
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes. ( 20382682 )
2010
44
The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism. ( 20591981 )
2010
45
Complex genetics in idiopathic hypogonadotropic hypogonadism. ( 20389092 )
2010
46
Heart rate variability of young men with idiopathic hypogonadotropic hypogonadism. ( 19766543 )
2010
47
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. ( 20887964 )
2010
48
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China. ( 19734936 )
2009
49
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. ( 19707180 )
2009
50
Prediction of testosterone response to human chorionic gonadotrophin in idiopathic hypogonadotropic hypogonadism patients. ( 19245075 )
2009

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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