MCID: HYP730
MIFTS: 52

Hypogonadotropic Hypogonadism

Categories: Rare diseases, Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Hypogonadotropic Hypogonadism:

Name: Hypogonadotropic Hypogonadism 12 12 24 14 69
Klinefelter Syndrome 12 72 50 25 42 69
Klinefelter's Syndrome 12 50 25 41 14
Xxy Trisomy 12 50 25 69
Xxy Syndrome 12 50 25
Congenital Idiopathic Hypogonadotropic Hypogonadism 12
Isolated Congenital Gonadotropin Deficiency 12
Klinefelters Syndrome 52
47, Xxy 50
47,xxy 72
47 Xxy 50

Classifications:



Summaries for Hypogonadotropic Hypogonadism

NIH Rare Diseases : 50 47, xxy refers to the presence of an additional x chromosome in a person's body cells. some individuals with a 47, xxy chromosome finding do not appear different from other individuals, and they may have mild symptoms or no apparent symptoms. during the first few years of life, most 47, xxy males do not show any obvious differences from typical male infants and young boys. children may have slightly weaker muscles, delayed development of motor skills, and learning and/or language problems. in later adolescence and adulthood, 47, xxy males can have features of klinefelter syndrome, which can include primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or other features. although the vast majority of individuals with 47, xxy identify as males, some develop atypical gender identities. there have been reports of individuals with 47, xxy having a female physical appearance, but in most cases this was attributed to changes in specific genes related to sexual development. most 47, xxy males are infertile, but many produce sperm and may be able to conceive with assisted reproduction. treatment varies among individuals and may include testosterone therapy; however, this therapy may not be appropriate for all individuals. last updated: 9/20/2013

MalaCards based summary : Hypogonadotropic Hypogonadism, also known as klinefelter syndrome, is related to hypogonadotropic hypogonadism 7 without anosmia and cerebellar ataxia and hypogonadotropic hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism is GNRH1 (Gonadotropin Releasing Hormone 1), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. The drugs Zinc and Methyltestosterone 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 : 41 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 : 72 Hypogonadotropic hypogonadism (HH), also known as secondary or central hypogonadism, as well as... more...

Related Diseases for Hypogonadotropic Hypogonadism

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

(show top 50) (show all 170)
id Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 without anosmia 12.4
2 cerebellar ataxia and hypogonadotropic hypogonadism 12.4
3 hypogonadotropic hypogonadism 1 with or without anosmia 12.4
4 hypogonadotropic hypogonadism 8 with or without anosmia 12.4
5 hypogonadotropic hypogonadism 9 with or without anosmia 12.4
6 hypogonadotropic hypogonadism 11 with or without anosmia 12.4
7 hypogonadotropic hypogonadism 16 with or without anosmia 12.4
8 hypogonadotropic hypogonadism 10 with or without anosmia 12.4
9 hypogonadotropic hypogonadism 13 with or without anosmia 12.4
10 hypogonadotropic hypogonadism 15 with or without anosmia 12.4
11 hypogonadotropic hypogonadism 12 with or without anosmia 12.4
12 hypogonadotropic hypogonadism 5 with or without anosmia 12.3
13 hypogonadotropic hypogonadism 6 with or without anosmia 12.3
14 hypogonadotropic hypogonadism 17 with or without anosmia 12.3
15 hypogonadotropic hypogonadism 14 with or without anosmia 12.3
16 hypogonadotropic hypogonadism 3 with or without anosmia 12.3
17 hypogonadotropic hypogonadism 21 with anosmia 12.3
18 hypogonadotropic hypogonadism 19 with or without anosmia 12.3
19 hypogonadotropic hypogonadism 22, with or without anosmia 12.3
20 hypogonadotropic hypogonadism 4 with or without anosmia 12.3
21 hypogonadotropic hypogonadism 20 with or without anosmia 12.3
22 hypogonadotropic hypogonadism 18 with or without anosmia 12.3
23 hypogonadotropic hypogonadism 2 with or without anosmia 12.3
24 hypogonadotropic hypogonadism 23 with or without anosmia 12.3
25 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.3
26 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.3
27 hypogonadotropic hypogonadism 24 without anosmia 12.3
28 normosmic congenital hypogonadotropic hypogonadism 12.1
29 kallmann syndrome 12.0
30 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 11.9
31 hypogonadotropic hypogonadism without anosmia, x-linked 11.9
32 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 11.9
33 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 11.9
34 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 11.9
35 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.9
36 adrenal hypoplasia, congenital 11.7
37 bosma arhinia microphthalmia syndrome 11.7
38 boucher-neuhauser syndrome 11.7
39 ataxia - hypogonadism - choroidal dystrophy 11.6
40 48,xxyy syndrome 11.4
41 hemochromatosis 11.4
42 48,xxxy syndrome 11.3
43 49,xxxxy syndrome 11.3
44 isolated gonadotropin-releasing hormone deficiency 11.2
45 pol iii-related leukodystrophies 11.2
46 hypogonadism 11.1
47 hypogonadotropism 11.1
48 oliver-mcfarlane syndrome 11.0
49 leukodystrophy, hypomyelinating, 11 11.0
50 waardenburg syndrome, type 2e, with or without neurologic involvement 11.0

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



Diseases related to Hypogonadotropic Hypogonadism

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism

MGI Mouse Phenotypes related to Hypogonadotropic Hypogonadism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.13 NSMF PROKR2 TAC3 TACR3 CHD7 FGF8
2 growth/size/body region MP:0005378 10.03 FGFR1 GNRH1 GNRHR KISS1 KISS1R PROKR2
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

Drugs & Therapeutics for Hypogonadotropic Hypogonadism

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

(show top 50) (show all 106)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4,Phase 3,Phase 1,Phase 2 7440-66-6 32051 23994
2
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
3
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
4
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
5
Anastrozole Approved, Investigational Phase 4,Phase 1 120511-73-1 2187
6
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3 50-28-2 5757
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
8
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
9 Chorionic Gonadotropin Phase 4,Phase 3,Phase 2
10 Follicle Stimulating Hormone Phase 4,Phase 3,Phase 2
11 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
12 Hormones Phase 4,Phase 3,Phase 2,Phase 1
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
14 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Androgens Phase 4,Phase 3,Phase 2,Phase 1
16 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
17 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1
18
Testosterone enanthate Phase 4,Phase 3,Phase 2,Phase 1 315-37-7 9416
19 Testosterone undecanoate Phase 4,Phase 3,Phase 2,Phase 1
20 Hypoglycemic Agents Phase 4,Phase 3,Phase 1,Phase 2
21 insulin Phase 4,Phase 3,Phase 1,Phase 2
22 Insulin, Globin Zinc Phase 4,Phase 3,Phase 1,Phase 2
23 Bone Density Conservation Agents Phase 4,Phase 2
24 Micronutrients Phase 4
25 Mitogens Phase 4
26 Trace Elements Phase 4
27 Vitamins Phase 4
28 decanoic acid Phase 4
29 Fertility Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Aromatase Inhibitors Phase 4,Phase 3,Phase 1
31 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Phase 1
32 Estrogens Phase 4,Phase 3,Phase 2,Phase 1
33 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
34 Estradiol 17 beta-cypionate Phase 4,Phase 3
35 Estradiol 3-benzoate Phase 4,Phase 3
36 Estradiol valerate Phase 4,Phase 3 979-32-8
37 Polyestradiol phosphate Phase 4,Phase 3
38
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
39
Enclomiphene Investigational Phase 3,Phase 2,Phase 1 15690-57-0
40 Anticoagulants Phase 3,Phase 2
41 Calcium, Dietary Phase 3,Phase 2
42 Chelating Agents Phase 3,Phase 2
43 Clomiphene Phase 3,Phase 2,Phase 1
44 Estrogen Receptor Modulators Phase 3,Phase 2,Phase 1
45 Selective Estrogen Receptor Modulators Phase 3,Phase 2,Phase 1
46 Zuclomiphene Phase 3,Phase 2,Phase 1
47 Contraceptive Agents Phase 3
48 Citrate Nutraceutical Phase 3,Phase 2,Phase 1
49
Citric Acid Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 77-92-9 311
50
Coal tar Approved Phase 2 8007-45-2

Interventional clinical trials:

(show top 50) (show all 100)

id 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 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
8 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
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 Hypogonadal Male Veterans (Pilot) Recruiting NCT02959853 Phase 4 Anastrazole
17 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)
18 Study to Evaluate the Safety and Efficacy of Androxal™ Treatment in Men With Secondary Hypogonadism Completed NCT00962637 Phase 3 Androxal;Androxal;AndroGel;Placebo
19 Study to Evaluate the Safety and Efficacy of Androxal Treatment in Men With Secondary Hypogonadism Completed NCT01067365 Phase 3 Androxal;Androxal
20 Phase III Study to Evaluated Morning Testosterone Normalization in Men With Secondary Hypogonadism Completed NCT01532414 Phase 3 Androxal;Placebo
21 Phase III Study to Evaluate Morning Testosterone Normalization in Overweight Men With Secondary Hypogonadism Completed NCT01739595 Phase 3 enclomiphene citrate;Placebo
22 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
23 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)
24 An Extension Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01739582 Phase 3 Androxal
25 Safety Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01534208 Phase 3 Androxal
26 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
27 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
28 Assessment of the Effects of Enclomiphene Citrate on Bone Mineral Density in Men With Secondary Hypogonadism Completed NCT01619683 Phase 3 enclomiphene citrate;Placebo
29 Short-term Effects of Aromatase Inhibition in Obese Men Completed NCT00138710 Phase 3 Letrozole (Femara)
30 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
31 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
32 LutrePulse Hypogonadotropic Hypogonadism Recruiting NCT01976728 Phase 3 Gonadorelin acetate 10µg/pulse;Gonadorelin acetate 15µg/pulse;Gonadorelin acetate 20µg/pulse;Placebo
33 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
34 Effects of Replacement Therapy With Sexual Steroid Hormones on the Insulin Sensitivity of Hypogonadal Man Active, not recruiting NCT02847806 Phase 3
35 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
36 Study to Evaluate the Efficacy of Androxal in Controlling Blood Glucose in Men With Type-2 Diabetes Mellitus Completed NCT01191320 Phase 2 Placebo;Androxal
37 To Evaluate Sperm Parameters in Men With Secondary Hypogonadism Previously Treated With Topical Testosterone Completed NCT00706719 Phase 2 25 mg Androxal;Testim 1%
38 Normalization of Morning Testosterone Levels in Men With Secondary Hypogonadism Completed NCT01270841 Phase 2 Placebo;topical testosterone;Androxal
39 Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Completed NCT00697814 Phase 2 Clomiphene citrate
40 The Effect on Androxal Versus Androgel on Morning Testosterone in Men With Secondary Hypogonadism (Low Testosterone) Completed NCT01386606 Phase 2 Androxal (enclomiphene citrate);Testosterone
41 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)
42 Observation Study of T-Gel (1%) in Treatment of Adolescent Boys With Hypogonadism Completed NCT00193661 Phase 2 Testosterone Gel (1%)
43 Efficacy and Tolerability of an Intra-Nasal Testosterone Product Completed NCT00975650 Phase 2 Nasobol® (Intra-nasal Testosterone);Androderm® (Positive Control)
44 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)
45 Pharmacokinetic Study to Determine Time to Steady-state Completed NCT00911586 Phase 2 Testosterone undecanoate
46 Effect of Intranasal Insulin on LH Concentrations in Man Recruiting NCT02154477 Phase 1, Phase 2 intranasal insulin;placebo (intranasal saline)
47 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
48 Safety and Efficacy of BGS649 in Male Obese Subjects With Hypogonadotropic Hypogonadism Active, not recruiting NCT02730169 Phase 2 BGS649;Placebo
49 Safety and Efficacy Study of Oral Fispemifene for the Treatment of Sexual Dysfunction in Hypogonadal Men Active, not recruiting NCT02443090 Phase 2 fispemifene
50 A 6 Month Safety Extension Study of MBGS205 Evaluating the Long Term Effects of BGS649 on Bone Mineral Density Enrolling by invitation NCT02908074 Phase 2 BGS649

Search NIH Clinical Center for Hypogonadotropic Hypogonadism

Cochrane evidence based reviews: klinefelter syndrome

Genetic Tests for Hypogonadotropic Hypogonadism

Genetic tests related to Hypogonadotropic Hypogonadism:

id Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 24

Anatomical Context for Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism:

39
Testes, Bone, Breast, Pituitary, Brain, Endothelial, Prostate

Publications for Hypogonadotropic Hypogonadism

Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 381)
id Title Authors Year
1
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism. ( 28320476 )
2017
2
Reversal of hypogonadotropic hypogonadism with spontaneous pregnancy in beta-thalassaemia major with transfusional haemosiderosis. ( 28830631 )
2017
3
A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism. ( 28284037 )
2017
4
Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism. ( 28833369 )
2017
5
Hypogonadotropic hypogonadism in a female patient with congenital arhinia. ( 27941181 )
2017
6
Bone mineral density in older patients with never-treated congenital hypogonadotropic hypogonadism. ( 28577250 )
2017
7
Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism. ( 28485664 )
2017
8
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male. ( 28583920 )
2017
9
Boucher NeuhAouser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6. ( 27866050 )
2017
10
Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism. ( 28698240 )
2017
11
Successful pregnancy and live birth from a hypogonadotropic hypogonadism woman with low serum estradiol concentrations despite numerous oocyte maturations: a case report. ( 28931393 )
2017
12
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism. ( 28476224 )
2017
13
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
14
Characteristics of a nationwide cohort of patients presenting with Isolated Hypogonadotropic Hypogonadism (IHH). ( 28882981 )
2017
15
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. ( 28087897 )
2017
16
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1. ( 28160246 )
2017
17
Hypogonadotropic hypogonadism in human immunodeficiency virus-infected men: uncommonly low testosterone levels. ( 28924485 )
2017
18
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058 )
2017
19
Hypogonadotropic hypogonadism in men with hereditary hemochromatosis. ( 28694969 )
2017
20
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. ( 28324054 )
2017
21
Similarity of female central (hypogonadotropic) hypogonadism and postmenopause. ( 28438051 )
2017
22
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
23
KLB, encoding I^-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. ( 28754744 )
2017
24
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. ( 28915117 )
2017
25
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. ( 28659543 )
2017
26
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. ( 27512013 )
2016
27
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and inA vitro study of a novel small indel in the NR0B1 gene. ( 27035099 )
2016
28
Pulsatile gonadotropin-releasing hormone therapy is associated with earlier spermatogenesis compared to combined gonadotropin therapy in patients with congenital hypogonadotropic hypogonadism. ( 28051040 )
2016
29
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
30
Neuroradiological findings in hypogonadotropic hypogonadism. ( 27050382 )
2016
31
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries. ( 26741373 )
2016
32
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. ( 27502037 )
2016
33
Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty. ( 27213784 )
2016
34
Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism. ( 26175221 )
2016
35
Adherence to treatment in men with hypogonadotropic hypogonadism. ( 27647266 )
2016
36
Hypogonadotropic hypogonadism and metabolic syndrome: insights from the high-fat diet experimental rabbit animal model. ( 27050381 )
2016
37
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. ( 27014940 )
2016
38
Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes due to Neurogenin 3 Deficiency. ( 27533310 )
2016
39
A successful healthy live birth from a female patient with hypogonadotropic hypogonadism and oocytes with unusually large cytoplasmic inclusions. ( 27203307 )
2016
40
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. ( 26595427 )
2016
41
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ( 27086651 )
2016
42
Reproductive endocrinology: New treatment protocol for hypogonadotropic hypogonadism. ( 27516343 )
2016
43
Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation. ( 27616149 )
2016
44
Comparison of bone mineral density in adolescent girls with the diagnosis of hypogonadotropic hypogonadism and hypergonadotropic hypogonadism. ( 27087454 )
2016
45
Kisspeptin levels in idiopathic hypogonadotropic hypogonadism diagnosed male patients and its relation with glucose-insulin dynamic. ( 27616469 )
2016
46
Comment on reversal of hypogonadotropic hypogonadism in a Chinese cohort. ( 25814161 )
2015
47
Sequential versus Continual Purified Urinary FSH / hCG in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 25825944 )
2015
48
Changes in Bone Mineral Density and Metabolic Parameters after Pulsatile Gonadorelin Treatment in Young Men with Hypogonadotropic Hypogonadism. ( 26417369 )
2015
49
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. ( 25968435 )
2015
50
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. ( 25531638 )
2015

Variations for Hypogonadotropic Hypogonadism

Copy number variations for Hypogonadotropic Hypogonadism from CNVD:

7 (show all 23)
id 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

Expression for Hypogonadotropic Hypogonadism

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism.

Pathways for Hypogonadotropic Hypogonadism

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 ANOS1 DUSP6 FGF17 FGF8 FGFR1 FSHB
2
Show member pathways
13.08 FSHB GNRH1 GNRHR KISS1 KISS1R PROK2
3
Show member pathways
12.23 ANOS1 FGF17 FGF8 FGFR1
4
Show member pathways
11.85 ANOS1 FGF17 FGF8 FGFR1
5
Show member pathways
11.46 FGF17 FGF8 FGFR1
6 11.36 FGF17 FGF8 FGFR1 GNRH1
7 9.91 FSHB GNRH1 GNRHR

GO Terms for Hypogonadotropic Hypogonadism

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

id 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 19)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 FGF17 FGF8 FGFR1 FSHB PROK2
2 MAPK cascade GO:0000165 9.84 DUSP6 FGF17 FGF8 FGFR1
3 response to organic cyclic compound GO:0014070 9.76 DUSP6 FGF8 GNRH1
4 phosphatidylinositol-mediated signaling GO:0048015 9.74 FGF17 FGF8 FGFR1
5 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF17 FGF8 FGFR1
6 female pregnancy GO:0007565 9.72 FSHB GNRH1 TAC3
7 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.58 FGF17 FGF8 FGFR1
8 aorta morphogenesis GO:0035909 9.52 CHD7 FGF8
9 gonad development GO:0008406 9.51 FGF8 NR0B1
10 generation of neurons GO:0048699 9.49 FGF8 FGFR1
11 branching involved in salivary gland morphogenesis GO:0060445 9.46 FGF8 FGFR1
12 male sex determination GO:0030238 9.43 GNRH1 NR0B1
13 inner ear morphogenesis GO:0042472 9.43 CHD7 FGF8 FGFR1
14 organ induction GO:0001759 9.37 FGF8 FGFR1
15 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.33 FGF17 FGF8 FGFR1
16 tachykinin receptor signaling pathway GO:0007217 9.32 TAC3 TACR3
17 neuropeptide signaling pathway GO:0007218 9.26 KISS1R PROK2 PROKR2 TAC3
18 fibroblast growth factor receptor signaling pathway GO:0008543 8.92 ANOS1 FGF17 FGF8 FGFR1
19 G-protein coupled receptor signaling pathway GO:0007186 10.05 GNRHR KISS1 KISS1R PROK2 PROKR2 TACR3

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

id 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 for Hypogonadotropic Hypogonadism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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