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MCID: HYP730
MIFTS: 56

Hypogonadotropic Hypogonadism

Categories: Rare diseases, Genetic diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hypogonadotropic Hypogonadism

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MalaCards integrated aliases for Hypogonadotropic Hypogonadism:

Name: Hypogonadotropic Hypogonadism 12 12 37 15 73
Klinefelter's Syndrome 12 76 53 25 43 15
Klinefelter Syndrome 12 53 25 44 73
Xxy Syndrome 12 53 25
Xxy Trisomy 12 25 73
Congenital Idiopathic Hypogonadotropic Hypogonadism 12
Isolated Congenital Gonadotropin Deficiency 12
Hypogonadism, Hypogonadotropic 40
Klinefelters Syndrome 55
47,xxy Syndrome 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Hypogonadotropic Hypogonadism

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NIH Rare Diseases : 53 Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone production), small and/or undescendent testes (cryptorchidism), enlarged breast tissue (gynecomastia), tall stature, and/or inability to have biological children (infertility), as well as an abnormal opening of the penis (hypospadias), and an small penis (micropenis). KS is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm) that results in the presence of one extra copy of the X chromosome in each cell (47,XXY).  KS treatment is based on the signs and symptoms present in each person. Life expectancy is usually normal and many people with KS have normal life. There is a very small risk of developing breast cancer and other conditions such as a chronic inflammatory disease called systemic lupus erythematosus.  In some cases, there is more than one X chromosome in each cell (for example, 48,XXXY or 49,XXXXY). These conditions, which are often called "variants of Klinefelter" syndrome usually have more serious problems (intellectual disability, skeletal problems, and poor coordination) than classic Klinefelter syndrome (47,XXY).

MalaCards based summary : Hypogonadotropic Hypogonadism, also known as klinefelter's syndrome, is related to hypogonadotropic hypogonadism 23 without anosmia and hypogonadotropic hypogonadism 7 with or without anosmia. An important gene associated with Hypogonadotropic Hypogonadism is XIST (X Inactive Specific Transcript
Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.
Dysfunction Pattern: Epigenetics), and among its related pathways/superpathways are GnRH signaling pathway and Neuroactive ligand-receptor interaction. The drugs Testosterone and Zinc have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and breast, and related phenotypes are endocrine/exocrine gland and growth/size/body region

MedlinePlus : 43 Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have Smaller testes and penis Breast growth Less facial and body hair Reduced muscle tone Narrower shoulders and wider hips Weaker bones Decreased sexual interest Lower energy KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in. A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives. Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help. NIH: National Institute of Child Health and Human Development

Genetics Home Reference : 25 Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.

Disease Ontology : 12 A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.

Wikipedia : 76 Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or... more...

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Related Diseases for Hypogonadotropic Hypogonadism

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Diseases related to Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 23 without anosmia 34.3 GNRH1 GNRHR
2 hypogonadotropic hypogonadism 7 with or without anosmia 33.0 DUSP6 FGF17 GNRH1 GNRHR POLR3B SPRY4
3 hypogonadotropism 31.4 GNRH1 GNRHR KISS1 KISS1R
4 precocious puberty 30.1 GNRH1 KISS1 KISS1R
5 anosmia 30.0 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
6 central precocious puberty 29.7 GNRH1 KISS1 KISS1R
7 charge syndrome 28.2 ANOS1 CHD7 FGF8 FGFR1 GNRHR PROK2
8 normosmic congenital hypogonadotropic hypogonadism 26.6 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
9 kallmann syndrome 25.9 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
10 hypogonadism 22.3 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
11 hypogonadotropic hypogonadism 1 with or without anosmia 12.5
12 hypogonadotropic hypogonadism 10 with or without anosmia 12.5
13 hypogonadotropic hypogonadism 21 with or without anosmia 12.5
14 hypogonadotropic hypogonadism 8 with or without anosmia 12.5
15 hypogonadotropic hypogonadism 11 with or without anosmia 12.5
16 hypogonadotropic hypogonadism 12 with or without anosmia 12.5
17 hypogonadotropic hypogonadism 13 with or without anosmia 12.5
18 hypogonadotropic hypogonadism 15 with or without anosmia 12.5
19 hypogonadotropic hypogonadism 16 with or without anosmia 12.5
20 hypogonadotropic hypogonadism 20 with or without anosmia 12.5
21 hypogonadotropic hypogonadism 3 with or without anosmia 12.5
22 hypogonadotropic hypogonadism 9 with or without anosmia 12.5
23 hypogonadotropic hypogonadism 14 with or without anosmia 12.5
24 hypogonadotropic hypogonadism 17 with or without anosmia 12.5
25 hypogonadotropic hypogonadism 19 with or without anosmia 12.5
26 hypogonadotropic hypogonadism 22 with or without anosmia 12.5
27 hypogonadotropic hypogonadism 4 with or without anosmia 12.5
28 hypogonadotropic hypogonadism 5 with or without anosmia 12.5
29 hypogonadotropic hypogonadism 6 with or without anosmia 12.5
30 hypogonadotropic hypogonadism 18 with or without anosmia 12.5
31 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.5
32 hypogonadotropic hypogonadism 2 with or without anosmia 12.5
33 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.4
34 hypogonadotropic hypogonadism 24 without anosmia 12.4
35 gordon holmes syndrome 12.1
36 adrenal hypoplasia, congenital 12.1
37 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.0
38 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 12.0
39 hypogonadotropic hypogonadism without anosmia, x-linked 12.0
40 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 12.0
41 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 12.0
42 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.0
43 ataxia - hypogonadism - choroidal dystrophy 12.0
44 boucher-neuhauser syndrome 11.9
45 bosma arhinia microphthalmia syndrome 11.9
46 isolated gonadotropin-releasing hormone deficiency 11.7
47 hemochromatosis, type 1 11.5
48 pol iii-related leukodystrophies 11.4
49 waardenburg syndrome, type 2e 11.2
50 oliver-mcfarlane syndrome 11.1

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism:



Diseases related to Hypogonadotropic Hypogonadism
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Symptoms & Phenotypes for Hypogonadotropic Hypogonadism

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MGI Mouse Phenotypes related to Hypogonadotropic Hypogonadism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.13 CHD7 FGF8 FGFR1 FSHB GNRH1 GNRHR
2 growth/size/body region MP:0005378 10.03 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
3 digestive/alimentary MP:0005381 9.97 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
4 homeostasis/metabolism MP:0005376 9.97 DUSP6 FGF8 FGFR1 FSHB GNRH1 GNRHR
5 nervous system MP:0003631 9.7 CHD7 FGF17 FGF8 FGFR1 GNRH1 KISS1
6 reproductive system MP:0005389 9.44 KISS1 KISS1R NR0B1 NSMF PROKR2 TAC3
Sources

Drugs & Therapeutics for Hypogonadotropic Hypogonadism

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Drugs for Hypogonadotropic Hypogonadism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0 6013
2
Zinc Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 7440-66-6 23994
3
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-18-4 6010
4
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 315-37-7 9416
5
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 5949-44-0
6
Menotropins Approved Phase 4,Not Applicable 61489-71-2, 9002-68-0 5360545
7
Anastrozole Approved, Investigational Phase 4,Phase 1 120511-73-1 2187
8
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
9 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Not Applicable 979-32-8
10
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
12
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
13 Chorionic Gonadotropin Phase 4,Phase 3,Phase 2,Not Applicable
14 Follicle Stimulating Hormone Phase 4,Phase 3,Phase 2,Not Applicable
15 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Bone Density Conservation Agents Phase 4,Phase 2
20 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Phase 1
21 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Hypoglycemic Agents Phase 4,Phase 1,Phase 2,Not Applicable
26 insulin Phase 4,Phase 1,Phase 2,Not Applicable
27 Insulin, Globin Zinc Phase 4,Phase 1,Phase 2,Not Applicable
28 Micronutrients Phase 4,Phase 2
29 Mitogens Phase 4
30 Trace Elements Phase 4,Phase 2
31 Vitamins Phase 4,Phase 2
32 decanoic acid Phase 4
33 Fertility Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Aromatase Inhibitors Phase 4,Phase 3,Phase 1
35 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Pharmaceutical Solutions Phase 4,Phase 2,Not Applicable
37 Estradiol 17 beta-cypionate Phase 4,Not Applicable
38 Estradiol 3-benzoate Phase 4,Not Applicable
39
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
40
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 77-92-9 311
41
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
42
Enclomiphene Investigational Phase 3,Phase 2,Phase 1 15690-57-0
43 Estrogen Receptor Modulators Phase 3,Phase 2,Phase 1
44 Selective Estrogen Receptor Modulators Phase 3,Phase 2,Phase 1
45 Anticoagulants Phase 3,Phase 2,Not Applicable
46 Calcium, Dietary Phase 3,Phase 2
47 Chelating Agents Phase 3,Phase 2
48 Clomiphene Phase 3,Phase 2,Phase 1
49 Zuclomiphene Phase 3,Phase 2,Phase 1
50 Cathartics Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 133)
# 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 Comparison of Assisted Reproductive Technology (ART) Outcomes Between Two Protocols of Induction of Ovulation in Patients With Hypogonadotropic Hypogonadism Unknown status NCT02140515 Phase 4 Lutropin alfa;Follitropin alfa and Lutropin alfa
3 Sequential Therapy for Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4 Traditional intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH plus zinc
4 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)
5 The Effect of Testosterone Replacement on Endothelial Dysfunction, Inflammation and Insulin Resistance in Male Hypogonadotrophic Hypogonadism Completed NCT01533129 Phase 4 Testogel 50 mg transdermal gel;Testosterone 250mg injection
6 Visceral Adiposity Index and Triglyceride/High-density Lipoprotein Cholesterol Ratio in the Congenital Hypogonadotropic Hypogonadism and Effect of Testosteron Treatment Completed NCT02111434 Phase 4 Testosterone
7 Endothelial Dysfunction, Inflammation and Insulin Resistance in Congenital Hypogonadism and Effect of Testosteron Replacement Therapy Completed NCT02171390 Phase 4 Testosterone 250mg injection;Testosteron 50 mg transdermal gel
8 The Effect of Testosteron Replacement Treatment on the Fibroblast Growth Factor-23, Asymmetric Dimethylarginine and Vitamin D Levels in the Congenital Hypogonadotropic Hypogonadism Completed NCT02111473 Phase 4 Testosterone
9 The Effect of Testosterone Replacement on the High Density Lipoprotein Cholesterol Subgroups Completed NCT01454011 Phase 4 Testosteron 250mg injection;Testosterone 50mg transdermal application
10 Testosterone Replacement Therapy Decreases Plasma Paraoxonase 1 Enzyme Activity In Male Patients With Hypogonadism Completed NCT01107067 Phase 4 Sustanon
11 Testosterone Replacement in Men With Diabetes and Obesity Completed NCT01127659 Phase 4 testosterone;placebo
12 Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
13 Metabolic Syndrome Criteria and the Effect of Testosterone Treatment in Young Men With Hypogonadism Completed NCT01160341 Phase 4 Testosteron
14 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Recruiting NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
15 Testosterone Therapy in Hypogonadal Men Treated With Opioids Recruiting NCT02433730 Phase 4 Testosterone;placebo
16 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
17 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Recruiting NCT02959853 Phase 4 Anastrazole
18 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Recruiting NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
19 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
20 Luveris® (Lutropin Alfa for Injection) in Women With Hypogonadotropic Hypogonadism (Luteinizing Hormone [LH] Less Than [<] 1.2 International Unit Per Liter [IU/L]) Terminated NCT00328926 Phase 4 Luveris® 75 IU;Luveris® 25 IU;Placebo;Recombinant human follicle stimulating hormone (r-hFSH);Recombinant human chorionic gonadotropin (r-hCG)
21 LutrePulse Hypogonadotropic Hypogonadism Completed NCT01976728 Phase 3 Gonadorelin acetate 10µg/pulse;Gonadorelin acetate 15µg/pulse;Gonadorelin acetate 20µg/pulse;Placebo
22 Study to Evaluate the Safety and Efficacy of Androxal™ Treatment in Men With Secondary Hypogonadism Completed NCT00962637 Phase 3 Androxal;Androxal;AndroGel;Placebo
23 Study to Evaluate the Safety and Efficacy of Androxal Treatment in Men With Secondary Hypogonadism Completed NCT01067365 Phase 3 Androxal;Androxal
24 Phase III Study to Evaluate Morning Testosterone Normalization in Overweight Men With Secondary Hypogonadism Completed NCT01739595 Phase 3 enclomiphene citrate;Placebo
25 Phase III Study to Evaluated Morning Testosterone Normalization in Men With Secondary Hypogonadism Completed NCT01532414 Phase 3 Androxal;Placebo
26 A Study of the Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adult Men With Hypogonadotropic Hypogonadism (HH) (P07937) Completed NCT01709331 Phase 3 Corifollitropin alfa;hCG
27 An Extension Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01739582 Phase 3 Androxal
28 Safety Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01534208 Phase 3 Androxal
29 A Study Using Recombinant Human Luteinizing Hormone (r-hLH, Luveris®) in the Treatment of Chinese Women With Hypogonadotropic Hypogonadism Completed NCT01084265 Phase 3 Recombinant human luteinizing hormone (r-hLH);Recombinant human follicle-stimulating hormone (r-hFSH);Human chorionic gonadotropin (hCG)
30 A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62% Completed NCT01993225 Phase 3 Androxal 12.5 mg/25 mg;Placebo Capsules;AndroGel 1.62%;Placebo Gel
31 A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62% Completed NCT01993212 Phase 3 Androxal 12.5 mg or 25 mg;AndroGel 1.62%;Placebo Capsules;Placebo Gel
32 Assessment of the Effects of Enclomiphene Citrate on Bone Mineral Density in Men With Secondary Hypogonadism Completed NCT01619683 Phase 3 enclomiphene citrate;Placebo
33 Short-term Effects of Aromatase Inhibition in Obese Men Completed NCT00138710 Phase 3 Letrozole (Femara)
34 Bioequivalence Study of Test and Reference Testosterone Topical Gel, 1.62% Metered Pump in Testosterone Deficient Adult Male Subjects Under Fasting Conditions Completed NCT02110368 Phase 3 Testosterone Topical Gel, 1.62% Metered Pump;AndroGel (testosterone gel) 1.62% Metered-Dose Pump
35 Long-term Safety Study of Intramuscular Injections of 750 mg and 1000 mg Testosterone Undecanoate in Hypogonadal Men Completed NCT00467870 Phase 3 Testosterone Undecanoate 750 mg;Testosterone Undecanoate 1000 mg
36 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
37 Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adolescent Males With Hypogonadotropic Hypogonadism (HH) Recruiting NCT03019575 Phase 3 Corifollitropin alfa;hCG
38 Safety and Efficacy Study of Oral Fispemifene for the Treatment of Sexual Dysfunction in Hypogonadal Men Unknown status NCT02443090 Phase 2 fispemifene
39 A Multi-Center Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Body Composition and Metabolic Parameters With Diet and Exercise in Conjunction With Treatment With 12.5 mg or 25 mg Enclomiphene Completed NCT02651688 Phase 2 Placebo;12.5 mg Enclomiphene Citrate;25 mg Enclomiphene Citrate
40 To Evaluate Sperm Parameters in Men With Secondary Hypogonadism Previously Treated With Topical Testosterone Completed NCT00706719 Phase 2 25 mg Androxal;Testim 1%
41 Study to Evaluate the Efficacy of Androxal in Controlling Blood Glucose in Men With Type-2 Diabetes Mellitus Completed NCT01191320 Phase 2 Placebo;Androxal
42 Normalization of Morning Testosterone Levels in Men With Secondary Hypogonadism Completed NCT01270841 Phase 2 Placebo;topical testosterone;Androxal
43 Effect of Intranasal Insulin on LH Concentrations in Man Completed NCT02154477 Phase 1, Phase 2 intranasal insulin;placebo (intranasal saline)
44 Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Completed NCT00697814 Phase 2 Clomiphene citrate
45 The Effect on Androxal Versus Androgel on Morning Testosterone in Men With Secondary Hypogonadism (Low Testosterone) Completed NCT01386606 Phase 2 Androxal (enclomiphene citrate);Testosterone
46 A One Year Open Label Study for the Treatment of Hypogonadism (Low Testosterone) in Men Who Have Completed ZA-203 Completed NCT01386567 Phase 2 Androxal (enclomiphene citrate);Testim (topical testosterone)
47 Observation Study of T-Gel (1%) in Treatment of Adolescent Boys With Hypogonadism Completed NCT00193661 Phase 2 Testosterone Gel (1%)
48 Efficacy and Tolerability of an Intra-Nasal Testosterone Product Completed NCT00975650 Phase 2 Nasobol® (Intra-nasal Testosterone);Androderm® (Positive Control)
49 Study to Determine the Effect of Food on the Absorption of an Oral Testosterone Undecanoate Formulation Completed NCT00924612 Phase 2 Oral testosterone undecanoate (containing 300 mg of T)
50 Pharmacokinetic Study to Determine Time to Steady-state Completed NCT00911586 Phase 2 Testosterone undecanoate

Search NIH Clinical Center for Hypogonadotropic Hypogonadism

Cochrane evidence based reviews: klinefelter syndrome

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Genetic Tests for Hypogonadotropic Hypogonadism

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Anatomical Context for Hypogonadotropic Hypogonadism

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MalaCards organs/tissues related to Hypogonadotropic Hypogonadism:

41
Testes, Bone, Breast, Pituitary, Brain, Endothelial, Testis
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Publications for Hypogonadotropic Hypogonadism

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Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 943)
# Title Authors Year
1
Predictive factors for pituitary response to pulsatile GnRH therapy in patients with congenital hypogonadotropic hypogonadism. ( 29516878 )
2018
2
The effects of low-dose human chorionic gonadotropin combined with human menopausal gonadotropin protocol on women with hypogonadotropic hypogonadism undergoing ovarian stimulation for in vitro fertilization. ( 28960429 )
2018
3
Metastatic mediastinal mature teratoma with malignant transformation in a young man with an adenocarcinoma in a Klinefelter's syndrome: Case report and review of the literature. ( 29673950 )
2018
4
FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. ( 29160040 )
2018
5
Health-related physical fitness and quality of life in men with congenital hypogonadotropic hypogonadism. ( 29430665 )
2018
6
MRI of ectopic posterior pituitary gland with dysgenesis of pituitary stalk in a patient with hypogonadotropic hypogonadism. ( 29887929 )
2018
7
Klinefelter's syndrome with lupus encephalitis and retroperitoneal teratoma. ( 29759049 )
2018
8
Semen quality in patients with pituitary disease and adult-onset hypogonadotropic hypogonadism. ( 29514896 )
2018
9
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings. ( 29777911 )
2018
10
Infertility treatment strategy involving combined freeze-all embryos and single vitrified-warmed embryo transfer during hormonal replacement cycle for in vitro fertilization of women with hypogonadotropic hypogonadism. ( 29436143 )
2018
11
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development. ( 29202173 )
2018
12
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. ( 29330225 )
2018
13
Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures. ( 29419413 )
2018
14
Transition of Care from Childhood to Adulthood: Congenital Hypogonadotropic Hypogonadism. ( 29886503 )
2018
15
Hypogonadotropic Hypogonadism in Men With Diabesity. ( 29934480 )
2018
16
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1. ( 28160246 )
2017
17
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. ( 28659543 )
2017
18
Successful pregnancy and live birth from a hypogonadotropic hypogonadism woman with low serum estradiol concentrations despite numerous oocyte maturations: a case report. ( 28931393 )
2017
19
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism. ( 28320476 )
2017
20
KLB, encoding I^-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. ( 28754744 )
2017
21
Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism. ( 28698240 )
2017
22
Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism. ( 29018155 )
2017
23
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. ( 29046692 )
2017
24
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
25
Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism. ( 28485664 )
2017
26
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. ( 29144511 )
2017
27
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058 )
2017
28
Characteristics of a nationwide cohort of patients presenting with Isolated Hypogonadotropic Hypogonadism (IHH). ( 28882981 )
2017
29
Hypogonadotropic hypogonadism in human immunodeficiency virus-infected men: uncommonly low testosterone levels. ( 28924485 )
2017
30
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism. ( 29146774 )
2017
31
Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism. ( 28195315 )
2017
32
Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center. ( 27927844 )
2017
33
Reversal of hypogonadotropic hypogonadism with spontaneous pregnancy in beta-thalassaemia major with transfusional haemosiderosis. ( 28830631 )
2017
34
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. ( 29108899 )
2017
35
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism. ( 28122887 )
2017
36
A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism. ( 28284037 )
2017
37
Boucher NeuhAouser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6. ( 27866050 )
2017
38
Oxytocin intranasal administration as a new hope for hypogonadotropic hypogonadism patients. ( 29150303 )
2017
39
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. ( 28087897 )
2017
40
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male. ( 28583920 )
2017
41
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. ( 28915117 )
2017
42
Corrigendum to &amp;quot;Klinefelter's syndrome (47,XXY) is in excess among men with SjAPgren's syndrome&amp;quot; [Clin. Immunol. 168 (2016) 25-29]. ( 29195081 )
2017
43
Bone mineral density in older patients with never-treated congenital hypogonadotropic hypogonadism. ( 28577250 )
2017
44
Hypogonadotropic hypogonadism in a female patient with congenital arhinia. ( 27941181 )
2017
45
Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome. ( 29022642 )
2017
46
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. ( 29280744 )
2017
47
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism. ( 28476224 )
2017
48
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. ( 28324054 )
2017
49
Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism. ( 28833369 )
2017
50
Hypogonadotropic hypogonadism in men with hereditary hemochromatosis. ( 28694969 )
2017
Sources

Variations for Hypogonadotropic Hypogonadism

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Copy number variations for Hypogonadotropic Hypogonadism from CNVD:

7 (show all 23)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 132541 19 59310648 59326954 Microdeletion PRPF31 Klinefelter syndrome
2 266741 Y 1 57772954 Deletion azoospermia Klinefelter syndrome
3 266742 Y 1 57772954 Deletion factor Klinefelter syndrome
4 266747 Y 1 57772954 Microdeletion AZFc Klinefelter syndrome
5 266797 Y 11300000 27200000 Microdeletio BPY2 Klinefelter syndrome
6 266799 Y 11300000 27200000 Microdeletio CDY1 Klinefelter syndrome
7 266801 Y 11300000 27200000 Microdeletio CDY2 Klinefelter syndrome
8 266803 Y 11300000 27200000 Microdeletio CSPG4LY Klinefelter syndrome
9 266805 Y 11300000 27200000 Microdeletio DAZ Klinefelter syndrome
10 266807 Y 11300000 27200000 Microdeletio EIF1AY Klinefelter syndrome
11 266809 Y 11300000 27200000 Microdeletio GOLGA2LY Klinefelter syndrome
12 266811 Y 11300000 27200000 Microdeletio HSFY Klinefelter syndrome
13 266813 Y 11300000 27200000 Microdeletio PRY Klinefelter syndrome
14 266815 Y 11300000 27200000 Microdeletio RBMYL1 Klinefelter syndrome
15 266817 Y 11300000 27200000 Microdeletio RPS4YS Klinefelter syndrome
16 266819 Y 11300000 27200000 Microdeletio SMCY Klinefelter syndrome
17 266821 Y 11300000 27200000 Microdeletio XKRY Klinefelter syndrome
18 266855 Y 11300000 57772954 Microdeletion AZF Klinefelter syndrome
19 266856 Y 11300000 57772954 Microdeletion AZFa Klinefelter syndrome
20 266859 Y 11300000 57772954 Microdeletion AZFc Klinefelter syndrome
21 266866 Y 11300000 57772954 Microdeletion b Klinefelter syndrome
22 266921 Y 13322553 13482162 Microdeletion DFFRY Klinefelter syndrome
23 266988 Y 18390253 18758303 Microdeletion XKRY Klinefelter syndrome
Sources

Expression for Hypogonadotropic Hypogonadism

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Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism.
Sources

Pathways for Hypogonadotropic Hypogonadism

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Pathways related to Hypogonadotropic Hypogonadism according to KEGG:

37
# Name Kegg Source Accession
1 GnRH signaling pathway hsa04912
2 Neuroactive ligand-receptor interaction hsa04080
3 Regulation of actin cytoskeleton hsa04810

Pathways related to Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 66
Show member pathways
 13.5 ANOS1 DUSP6 FGF17 FGF8 FGFR1 FSHB
2
Peptide ligand-binding receptors 66
Show member pathways
 13.08 FSHB GNRH1 GNRHR KISS1 KISS1R PROK2
3
Negative regulation of FGFR3 signaling 66
Show member pathways
 12.18 ANOS1 FGF17 FGF8 FGFR1
4
Signaling by FGFR2 66
Show member pathways
 11.85 ANOS1 FGF17 FGF8 FGFR1
5
FGFR1 mutant receptor activation 66
Show member pathways
 11.45 FGF17 FGF8 FGFR1
6
Hormone ligand-binding receptors 66
9.91 FSHB GNRH1 GNRHR
Sources

GO Terms for Hypogonadotropic Hypogonadism

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Cellular components related to Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 ANOS1 FGF17 FGF8 FGFR1 FSHB GNRH1

Biological processes related to Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.89 FGF17 FGF8 FGFR1 FSHB PROK2
2 MAPK cascade GO:0000165 9.83 DUSP6 FGF17 FGF8 FGFR1
3 response to organic cyclic compound GO:0014070 9.74 DUSP6 FGF8 GNRH1
4 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF17 FGF8 FGFR1
5 female pregnancy GO:0007565 9.69 FSHB GNRH1 TAC3
6 generation of neurons GO:0048699 9.55 FGF8 FGFR1
7 aorta morphogenesis GO:0035909 9.54 CHD7 FGF8
8 inner ear morphogenesis GO:0042472 9.54 CHD7 FGF8 FGFR1
9 gonad development GO:0008406 9.48 FGF8 NR0B1
10 male sex determination GO:0030238 9.46 GNRH1 NR0B1
11 neuropeptide signaling pathway GO:0007218 9.46 KISS1R PROK2 PROKR2 TAC3
12 organ induction GO:0001759 9.43 FGF8 FGFR1
13 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF17 FGF8 FGFR1
14 branching involved in salivary gland morphogenesis GO:0060445 9.4 FGF8 FGFR1
15 tachykinin receptor signaling pathway GO:0007217 9.32 TAC3 TACR3
16 G-protein coupled receptor signaling pathway GO:0007186 9.28 FSHB GNRH1 GNRHR KISS1 KISS1R PROK2
17 fibroblast growth factor receptor signaling pathway GO:0008543 9.26 ANOS1 FGF17 FGF8 FGFR1

Molecular functions related to Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 FGF17 FGF8 FGFR1
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGF17 FGF8 FGFR1
3 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGF17 FGF8 FGFR1
Sources

Sources for Hypogonadotropic Hypogonadism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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