Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HYP730
MIFTS: 58

Hypogonadotropic Hypogonadism

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Hypogonadotropic Hypogonadism

About this section

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
47,xxy Syndrome 53 25
Congenital Idiopathic Hypogonadotropic Hypogonadism 12
Isolated Congenital Gonadotropin Deficiency 12
Hypogonadism, Hypogonadotropic 40
Klinefelters Syndrome 55

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0090070 DOID:1921
ICD9CM 35 758.7
MeSH 44 D007713
NCIt 50 C34752
SNOMED-CT 68 22053006
KEGG 37 H00255
Sources

Summaries for Hypogonadotropic Hypogonadism

About this section
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), and among its related pathways/superpathways are GnRH signaling pathway and Neuroactive ligand-receptor interaction. The drugs Menotropins and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and bone, and related phenotypes are endocrine/exocrine gland and growth/size/body region

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

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

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

Sources

Related Diseases for Hypogonadotropic Hypogonadism

About this section

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

(show top 50) (show all 333)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 23 without anosmia 34.1 GNRH1 GNRHR
2 hypogonadotropic hypogonadism 7 with or without anosmia 33.7 DUSP6 FGF17 FGFR1 GNRH1 GNRHR POLR3B
3 normosmic congenital hypogonadotropic hypogonadism 31.4 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
4 hypogonadotropism 31.4 GNRH1 GNRHR KISS1 KISS1R
5 kallmann syndrome 31.2 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
6 anosmia 30.9 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
7 precocious puberty 30.5 GNRH1 KISS1 KISS1R
8 central precocious puberty 30.0 GNRH1 KISS1 KISS1R
9 charge syndrome 29.8 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
10 idiopathic central precocious puberty 29.3 KISS1 KISS1R TAC3 TACR3
11 hypogonadism 29.2 POLR3B PROK2 PROKR2 SPRY4 TAC3 TACR3
12 hypogonadotropic hypogonadism 1 with or without anosmia 12.7
13 hypogonadotropic hypogonadism 10 with or without anosmia 12.7
14 hypogonadotropic hypogonadism 21 with or without anosmia 12.7
15 hypogonadotropic hypogonadism 4 with or without anosmia 12.7
16 hypogonadotropic hypogonadism 8 with or without anosmia 12.7
17 hypogonadotropic hypogonadism 11 with or without anosmia 12.7
18 hypogonadotropic hypogonadism 12 with or without anosmia 12.7
19 hypogonadotropic hypogonadism 13 with or without anosmia 12.7
20 hypogonadotropic hypogonadism 15 with or without anosmia 12.7
21 hypogonadotropic hypogonadism 16 with or without anosmia 12.7
22 hypogonadotropic hypogonadism 20 with or without anosmia 12.7
23 hypogonadotropic hypogonadism 3 with or without anosmia 12.6
24 hypogonadotropic hypogonadism 9 with or without anosmia 12.6
25 hypogonadotropic hypogonadism 14 with or without anosmia 12.6
26 hypogonadotropic hypogonadism 17 with or without anosmia 12.6
27 hypogonadotropic hypogonadism 19 with or without anosmia 12.6
28 hypogonadotropic hypogonadism 22 with or without anosmia 12.6
29 hypogonadotropic hypogonadism 5 with or without anosmia 12.6
30 hypogonadotropic hypogonadism 6 with or without anosmia 12.6
31 hypogonadotropic hypogonadism 18 with or without anosmia 12.6
32 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.6
33 hypogonadotropic hypogonadism 2 with or without anosmia 12.6
34 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.6
35 hypogonadotropic hypogonadism 24 without anosmia 12.5
36 adrenal hypoplasia, congenital 12.2
37 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.2
38 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 12.2
39 hypogonadotropic hypogonadism without anosmia, x-linked 12.2
40 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 12.2
41 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 12.2
42 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.2
43 gordon holmes syndrome 12.1
44 boucher-neuhauser syndrome 12.0
45 bosma arhinia microphthalmia syndrome 12.0
46 ataxia - hypogonadism - choroidal dystrophy 11.9
47 isolated gonadotropin-releasing hormone deficiency 11.9
48 chudley rozdilsky syndrome 11.7
49 48,xxyy syndrome 11.6
50 hemochromatosis, type 1 11.6

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



Diseases related to Hypogonadotropic Hypogonadism
Sources

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism

About this section

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 CHD7 DUSP6 FGF8 FGFR1 FSHB GNRH1
5 nervous system MP:0003631 9.7 CHD7 FGF17 FGF8 FGFR1 GNRH1 KISS1
6 reproductive system MP:0005389 9.44 CHD7 FGF8 FGFR1 FSHB GNRH1 GNRHR
Sources

Drugs & Therapeutics for Hypogonadotropic Hypogonadism

About this section

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menotropins Approved Phase 4,Not Applicable 61489-71-2, 9002-68-0 5360545
2
Anastrozole Approved, Investigational Phase 4,Phase 1 120511-73-1 2187
3
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0 6013
4
Zinc Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 7440-66-6
5
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 315-37-7 9416
6
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-18-4 6010
7
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 5949-44-0
8
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
9
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
10 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Not Applicable 979-32-8
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
12
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
13 Fertility Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Follicle Stimulating Hormone Phase 4,Phase 3,Phase 2,Not Applicable
15 Chorionic Gonadotropin Phase 4,Phase 3,Phase 2,Not Applicable
16 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Phase 1
21 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Estrogen Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
23 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Aromatase Inhibitors Phase 4,Phase 3,Phase 1
25 Bone Density Conservation Agents Phase 4,Phase 2
26 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 insulin Phase 4,Phase 1,Phase 2,Not Applicable
30 Hypoglycemic Agents Phase 4,Phase 1,Phase 2,Not Applicable
31 Insulin, Globin Zinc Phase 4,Phase 1,Phase 2,Not Applicable
32 Micronutrients Phase 4
33 Calciferol Phase 4
34 Mitogens Phase 4
35 Trace Elements Phase 4
36 Vitamins Phase 4
37 decanoic acid Phase 4
38 Analgesics, Opioid Phase 4
39 Estradiol 17 beta-cypionate Phase 4,Not Applicable
40 Estradiol 3-benzoate Phase 4,Not Applicable
41
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
42
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 77-92-9 311
43
Enclomiphene Investigational Phase 3,Phase 2,Phase 1 15690-57-0
44 Prolactin Release-Inhibiting Factors Phase 3,Phase 2,Not Applicable
45 Estrogen Receptor Modulators Phase 3,Phase 2,Phase 1
46 Selective Estrogen Receptor Modulators Phase 3,Phase 2,Phase 1
47 Calcium, Dietary Phase 3,Phase 2
48 Zuclomiphene Phase 3,Phase 2,Phase 1
49 Anticoagulants Phase 3,Phase 2,Not Applicable
50 Chelating Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
2 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
3 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
4 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Unknown status NCT02959853 Phase 4 Anastrazole
5 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
6 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)
7 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
8 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
9 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
10 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
11 The Effect of Testosterone Replacement on the High Density Lipoprotein Cholesterol Subgroups Completed NCT01454011 Phase 4 Testosteron 250mg injection;Testosterone 50mg transdermal application
12 Testosterone Replacement Therapy Decreases Plasma Paraoxonase 1 Enzyme Activity In Male Patients With Hypogonadism Completed NCT01107067 Phase 4 Sustanon
13 Testosterone Replacement in Men With Diabetes and Obesity Completed NCT01127659 Phase 4 testosterone;placebo
14 Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
15 Metabolic Syndrome Criteria and the Effect of Testosterone Treatment in Young Men With Hypogonadism Completed NCT01160341 Phase 4 Testosteron
16 Testosterone Therapy in Hypogonadal Men Treated With Opioids Recruiting NCT02433730 Phase 4 Testosterone;placebo
17 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
18 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH) Not yet recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
19 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)
20 LutrePulse Hypogonadotropic Hypogonadism Completed NCT01976728 Phase 3 Gonadorelin acetate 10µg/pulse;Gonadorelin acetate 15µg/pulse;Gonadorelin acetate 20µg/pulse;Placebo
21 Study to Evaluate the Safety and Efficacy of Androxal™ Treatment in Men With Secondary Hypogonadism Completed NCT00962637 Phase 3 Androxal;Androxal;AndroGel;Placebo
22 Study to Evaluate the Safety and Efficacy of Androxal Treatment in Men With Secondary Hypogonadism Completed NCT01067365 Phase 3 Androxal;Androxal
23 Phase III Study to Evaluate Morning Testosterone Normalization in Overweight Men With Secondary Hypogonadism Completed NCT01739595 Phase 3 enclomiphene citrate;Placebo
24 Phase III Study to Evaluated Morning Testosterone Normalization in Men With Secondary Hypogonadism Completed NCT01532414 Phase 3 Androxal;Placebo
25 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
26 An Extension Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01739582 Phase 3 Androxal
27 Safety Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01534208 Phase 3 Androxal
28 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)
29 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
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 NCT01993212 Phase 3 Androxal 12.5 mg or 25 mg;AndroGel 1.62%;Placebo Capsules;Placebo Gel
31 Assessment of the Effects of Enclomiphene Citrate on Bone Mineral Density in Men With Secondary Hypogonadism Completed NCT01619683 Phase 3 enclomiphene citrate;Placebo
32 Short-term Effects of Aromatase Inhibition in Obese Men Completed NCT00138710 Phase 3 Letrozole (Femara)
33 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
34 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
35 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
36 Safety and Efficacy Study of Oral Fispemifene for the Treatment of Sexual Dysfunction in Hypogonadal Men Unknown status NCT02443090 Phase 2 fispemifene
37 Safety and Efficacy of BGS649 in Male Obese Subjects With Hypogonadotropic Hypogonadism Completed NCT02730169 Phase 2 BGS649;Placebo
38 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
39 To Evaluate Sperm Parameters in Men With Secondary Hypogonadism Previously Treated With Topical Testosterone Completed NCT00706719 Phase 2 25 mg Androxal;Testim 1%
40 Study to Evaluate the Efficacy of Androxal in Controlling Blood Glucose in Men With Type-2 Diabetes Mellitus Completed NCT01191320 Phase 2 Placebo;Androxal
41 Normalization of Morning Testosterone Levels in Men With Secondary Hypogonadism Completed NCT01270841 Phase 2 Placebo;topical testosterone;Androxal
42 Effect of Intranasal Insulin on LH Concentrations in Man Completed NCT02154477 Phase 1, Phase 2 intranasal insulin;placebo (intranasal saline)
43 Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Completed NCT00697814 Phase 2 Clomiphene citrate
44 A 6 Month Safety Extension Study of MBGS205 Completed NCT02908074 Phase 2 BGS649
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®;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

Sources

Genetic Tests for Hypogonadotropic Hypogonadism

About this section
Sources

Anatomical Context for Hypogonadotropic Hypogonadism

About this section

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism:

41
Breast, Testes, Bone, Pituitary, Brain, Testis, Liver
Sources

Publications for Hypogonadotropic Hypogonadism

About this section

Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 1533)
# 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
Investigation of treatment for azoospermia due to male hypogonadotropic hypogonadism in Japan. ( 30302833 )
2018
16
Hypogonadotropic Hypogonadism in Men With Diabesity. ( 29934480 )
2018
17
Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. ( 30098700 )
2018
18
Evaluation of Sexual Function in Women with Hypogonadotropic Hypogonadism Using the Female Sexual Function Index (FSFI) and the Beck Depression Inventory (BDI). ( 30099473 )
2018
19
Testicular morphology in hypogonadotropic hypogonadism after the abuse of anabolic steroids. ( 30175397 )
2018
20
The role of ADAMTS4 and ADAMTS9 in cardiovascular disease in premature ovarian insufficiency and idiopathic hypogonadotropic hypogonadism. ( 30187439 )
2018
21
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30216942 )
2018
22
Gonadotropin replacement in male thalassemia major patients with arrested puberty and acquired hypogonadotropic hypogonadism (AAH): preliminary results and potential factors affecting induction of spermatogenesis. ( 30298384 )
2018
23
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association. ( 30370152 )
2018
24
A novel GNRHR gene mutation causing Congenital Hypogonadotropic Hypogonadism (CHH) in a Brazilian Kindred. ( 30415482 )
2018
25
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. ( 30430143 )
2018
26
Xanthomatous hypophysitis causing hypogonadotropic hypogonadism resulting in delayed presentation of slipped capital femoral epiphysis. ( 30450996 )
2018
27
Assisted reproductive techniques with congenital hypogonadotropic hypogonadism patients: a systematic review and meta-analysis. ( 30453944 )
2018
28
Prevalence and Associated Phenotypes of PLXNA1 Variants in Normosmic and Anosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30467832 )
2018
29
Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism. ( 30519672 )
2018
30
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. ( 30550377 )
2018
31
Intracytoplasmic sperm injection outcome of ejaculated spermatozoa from a man with mosaic Klinefelter's Syndrome: case report and literature review. ( 30060725 )
2018
32
Re: Testicular Function during Puberty and Young Adulthood in Patients with Klinefelter's Syndrome with and without Spermatozoa in Seminal Fluid. ( 30227562 )
2018
33
Chronic refractory leg ulcers in mosaic Klinefelter's syndrome: the importance of a prompt diagnosis and appropriate treatment. ( 30251809 )
2018
34
Gender dysphoria in Klinefelter's syndrome: three cases. ( 28696129 )
2018
35
Klinefelter's syndrome and sexual offending - A literature review. ( 28782868 )
2018
36
Microdissection testicular sperm extraction in five Japanese patients with non-mosaic Klinefelter's syndrome. ( 29692680 )
2018
37
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1. ( 28160246 )
2017
38
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. ( 28659543 )
2017
39
Successful pregnancy and live birth from a hypogonadotropic hypogonadism woman with low serum estradiol concentrations despite numerous oocyte maturations: a case report. ( 28931393 )
2017
40
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism. ( 28320476 )
2017
41
KLB, encoding I^-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. ( 28754744 )
2017
42
Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism. ( 28698240 )
2017
43
Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism. ( 29018155 )
2017
44
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. ( 29046692 )
2017
45
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
46
Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism. ( 28485664 )
2017
47
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. ( 29144511 )
2017
48
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058 )
2017
49
Characteristics of a nationwide cohort of patients presenting with Isolated Hypogonadotropic Hypogonadism (IHH). ( 28882981 )
2017
50
Hypogonadotropic hypogonadism in human immunodeficiency virus-infected men: uncommonly low testosterone levels. ( 28924485 )
2017
Sources

Variations for Hypogonadotropic Hypogonadism

About this section
Sources

Expression for Hypogonadotropic Hypogonadism

About this section
Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism.
Sources

Pathways for Hypogonadotropic Hypogonadism

About this section

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 FGFR1 signaling 66
Show member pathways
 12.23 ANOS1 FGF17 FGF8 FGFR1
4
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.94 FGF17 FGF8 FGFR1 GNRH1
5
Signaling by FGFR2 66
Show member pathways
 11.85 ANOS1 FGF17 FGF8 FGFR1
6
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.77 FGF17 FGF8 FGFR1 GNRH1
7
FGFR1 mutant receptor activation 66
Show member pathways
 11.45 FGF17 FGF8 FGFR1
8
G-protein signaling_RhoA regulation pathway 22
11.36 FGF17 FGF8 FGFR1 GNRH1
9
Hormone ligand-binding receptors 66
9.91 FSHB GNRH1 GNRHR
Sources

GO Terms for Hypogonadotropic Hypogonadism

About this section

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 9.92 FGF17 FGF8 FGFR1 FSHB PROK2
2 response to organic cyclic compound GO:0014070 9.74 DUSP6 FGF8 GNRH1
3 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF17 FGF8 FGFR1
4 female pregnancy GO:0007565 9.71 FSHB GNRH1 TAC3
5 MAPK cascade GO:0000165 9.71 DUSP6 FGF17 FGF8 FGFR1
6 aorta morphogenesis GO:0035909 9.55 CHD7 FGF8
7 generation of neurons GO:0048699 9.51 FGF8 FGFR1
8 inner ear morphogenesis GO:0042472 9.5 CHD7 FGF8 FGFR1
9 gonad development GO:0008406 9.49 FGF8 NR0B1
10 male sex determination GO:0030238 9.48 GNRH1 NR0B1
11 branching involved in salivary gland morphogenesis GO:0060445 9.46 FGF8 FGFR1
12 neuropeptide signaling pathway GO:0007218 9.46 KISS1R PROK2 PROKR2 TAC3
13 organ induction GO:0001759 9.43 FGF8 FGFR1
14 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF17 FGF8 FGFR1
15 tachykinin receptor signaling pathway GO:0007217 9.37 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 fibroblast growth factor receptor binding GO:0005104 9.26 FGF17 FGF8
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGF17 FGF8 FGFR1
4 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGF17 FGF8 FGFR1
Sources

Sources for Hypogonadotropic Hypogonadism

About this section
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
Content
Loading form....