MCID: HYP730
MIFTS: 56

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 36 14 69
Klinefelter's Syndrome 12 72 49 24 40 14
Klinefelter Syndrome 12 49 24 41 69
Xxy Syndrome 12 49 24
Xxy Trisomy 12 24 69
Congenital Idiopathic Hypogonadotropic Hypogonadism 12
Isolated Congenital Gonadotropin Deficiency 12
Klinefelters Syndrome 51
47,xxy Syndrome 49

Classifications:



Summaries for Hypogonadotropic Hypogonadism

NIH Rare Diseases : 49 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). Last updated: 2/14/2018

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 GNRH1 (Gonadotropin Releasing Hormone 1), 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 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.

Genetics Home Reference : 24 Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.

MedlinePlus : 40 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 : 72 Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or... 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 160)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 23 without anosmia 34.2 GNRH1 GNRHR
2 hypogonadotropic hypogonadism 7 with or without anosmia 33.7 DUSP6 FGF17 GNRH1 GNRHR SPRY4
3 hypogonadotropism 31.5 GNRH1 KISS1 KISS1R
4 anosmia 30.1 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
5 precocious puberty 29.9 GNRH1 KISS1 KISS1R
6 central precocious puberty 29.5 GNRH1 KISS1 KISS1R
7 cryptorchidism, unilateral or bilateral 29.0 ANOS1 CHD7 FGFR1 GNRH1 GNRHR PROK2
8 charge syndrome 28.9 ANOS1 CHD7 FGF8 FGFR1 GNRHR PROK2
9 normosmic congenital hypogonadotropic hypogonadism 28.5 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
10 kallmann syndrome 28.1 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
11 hypogonadism 25.4 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
12 hypogonadotropic hypogonadism 1 with or without anosmia 12.5
13 hypogonadotropic hypogonadism 10 with or without anosmia 12.5
14 hypogonadotropic hypogonadism 11 with or without anosmia 12.5
15 hypogonadotropic hypogonadism 12 with or without anosmia 12.5
16 hypogonadotropic hypogonadism 13 with or without anosmia 12.5
17 hypogonadotropic hypogonadism 15 with or without anosmia 12.5
18 hypogonadotropic hypogonadism 16 with or without anosmia 12.5
19 hypogonadotropic hypogonadism 21 with or without anosmia 12.5
20 hypogonadotropic hypogonadism 22 with or without anosmia 12.5
21 hypogonadotropic hypogonadism 8 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 18 with or without anosmia 12.5
26 hypogonadotropic hypogonadism 19 with or without anosmia 12.5
27 hypogonadotropic hypogonadism 20 with or without anosmia 12.5
28 hypogonadotropic hypogonadism 3 with or without anosmia 12.5
29 hypogonadotropic hypogonadism 4 with or without anosmia 12.5
30 hypogonadotropic hypogonadism 5 with or without anosmia 12.5
31 hypogonadotropic hypogonadism 6 with or without anosmia 12.5
32 hypogonadotropic hypogonadism 2 with or without anosmia 12.5
33 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.4
34 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.4
35 hypogonadotropic hypogonadism 24 without anosmia 12.4
36 gordon holmes syndrome 12.1
37 adrenal hypoplasia, congenital 12.1
38 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.0
39 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 12.0
40 hypogonadotropic hypogonadism without anosmia, x-linked 12.0
41 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 12.0
42 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 12.0
43 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.0
44 ataxia - hypogonadism - choroidal dystrophy 12.0
45 boucher-neuhauser syndrome 11.9
46 bosma arhinia microphthalmia syndrome 11.9
47 48,xxyy syndrome 11.5
48 hemochromatosis, type 1 11.5
49 pol iii-related leukodystrophies 11.4
50 48,xxxy syndrome 11.4

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.13 KISS1R NR0B1 NSMF PROKR2 TAC3 TACR3
2 growth/size/body region MP:0005378 10.03 FGF8 FGFR1 GNRH1 GNRHR KISS1 KISS1R
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 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 7440-66-6 32051 23994
3
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-18-4 6010
4
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
5
Anastrozole Approved, Investigational Phase 4,Phase 1 120511-73-1 2187
6
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
9 Chorionic Gonadotropin Phase 4,Phase 3,Phase 2,Not Applicable
10 Follicle Stimulating Hormone Phase 4,Phase 3,Phase 2
11 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Bone Density Conservation Agents Phase 4,Phase 2
16 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Phase 1
17 Estrogens Phase 4,Phase 3,Phase 2,Phase 1
18 Anabolic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21
Testosterone enanthate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 315-37-7 9416
22 Testosterone undecanoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Hypoglycemic Agents Phase 4,Phase 1,Phase 2
24 insulin Phase 4,Phase 1,Phase 2
25 Insulin, Globin Zinc Phase 4,Phase 1,Phase 2
26 Micronutrients Phase 4,Phase 2
27 Mitogens Phase 4
28 Trace Elements Phase 4,Phase 2
29 Vitamins Phase 4,Phase 2
30 decanoic acid Phase 4
31 Fertility Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Aromatase Inhibitors Phase 4,Phase 3,Phase 1
33 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
34 Pharmaceutical Solutions Phase 4,Phase 2
35 Estradiol 17 beta-cypionate Phase 4
36 Estradiol 3-benzoate Phase 4
37 Estradiol valerate Phase 4 979-32-8
38 Polyestradiol phosphate Phase 4
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
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
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 131)

# 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 Hypogonadal Male Veterans (Pilot) Recruiting NCT02959853 Phase 4 Anastrazole
17 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
18 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
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 Study to Evaluate the Safety and Efficacy of Androxal™ Treatment in Men With Secondary Hypogonadism Completed NCT00962637 Phase 3 Androxal;Androxal;AndroGel;Placebo
21 Study to Evaluate the Safety and Efficacy of Androxal Treatment in Men With Secondary Hypogonadism Completed NCT01067365 Phase 3 Androxal;Androxal
22 Phase III Study to Evaluate Morning Testosterone Normalization in Overweight Men With Secondary Hypogonadism Completed NCT01739595 Phase 3 enclomiphene citrate;Placebo
23 Phase III Study to Evaluated Morning Testosterone Normalization in Men With Secondary Hypogonadism Completed NCT01532414 Phase 3 Androxal;Placebo
24 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
25 An Extension Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01739582 Phase 3 Androxal
26 Safety Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism Completed NCT01534208 Phase 3 Androxal
27 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)
28 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
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 NCT01993212 Phase 3 Androxal 12.5 mg or 25 mg;AndroGel 1.62%;Placebo Capsules;Placebo Gel
30 Assessment of the Effects of Enclomiphene Citrate on Bone Mineral Density in Men With Secondary Hypogonadism Completed NCT01619683 Phase 3 enclomiphene citrate;Placebo
31 Short-term Effects of Aromatase Inhibition in Obese Men Completed NCT00138710 Phase 3 Letrozole (Femara)
32 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
33 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
34 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
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 LutrePulse Hypogonadotropic Hypogonadism Active, not recruiting NCT01976728 Phase 3 Gonadorelin acetate 10µg/pulse;Gonadorelin acetate 15µg/pulse;Gonadorelin acetate 20µg/pulse;Placebo
37 Safety and Efficacy Study of Oral Fispemifene for the Treatment of Sexual Dysfunction in Hypogonadal Men Unknown status NCT02443090 Phase 2 fispemifene
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 The Effect on Androxal Versus Androgel on Morning Testosterone in Men With Secondary Hypogonadism (Low Testosterone) Completed NCT01386606 Phase 2 Androxal (enclomiphene citrate);Testosterone
45 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)
46 Observation Study of T-Gel (1%) in Treatment of Adolescent Boys With Hypogonadism Completed NCT00193661 Phase 2 Testosterone Gel (1%)
47 Efficacy and Tolerability of an Intra-Nasal Testosterone Product Completed NCT00975650 Phase 2 Nasobol® (Intra-nasal Testosterone);Androderm® (Positive Control)
48 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)
49 Pharmacokinetic Study to Determine Time to Steady-state Completed NCT00911586 Phase 2 Testosterone undecanoate
50 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH

Search NIH Clinical Center for Hypogonadotropic Hypogonadism

Cochrane evidence based reviews: klinefelter syndrome

Genetic Tests for Hypogonadotropic Hypogonadism

Anatomical Context for Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism:

38
Breast, Testes, Bone, Pituitary, Endothelial, Brain, Testis

Publications for Hypogonadotropic Hypogonadism

Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 914)
# Title Authors Year
1
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
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
Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures. ( 29419413 )
2018
4
FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. ( 29160040 )
2018
5
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
6
Health-related physical fitness and quality of life in men with congenital hypogonadotropic hypogonadism. ( 29430665 )
2018
7
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development. ( 29202173 )
2018
8
Bone mineral density in older patients with never-treated congenital hypogonadotropic hypogonadism. ( 28577250 )
2017
9
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058 )
2017
10
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. ( 28324054 )
2017
11
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. ( 29144511 )
2017
12
Hypogonadotropic hypogonadism in men with hereditary hemochromatosis. ( 28694969 )
2017
13
Corrigendum to "Klinefelter's syndrome (47,XXY) is in excess among men with SjAPgren's syndrome" [Clin. Immunol. 168 (2016) 25-29]. ( 29195081 )
2017
14
KLB, encoding I^-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. ( 28754744 )
2017
15
Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism. ( 28833369 )
2017
16
A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism. ( 28284037 )
2017
17
Hypogonadotropic hypogonadism in a female patient with congenital arhinia. ( 27941181 )
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
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. ( 28659543 )
2017
20
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
21
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. ( 29046692 )
2017
22
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male. ( 28583920 )
2017
23
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism. ( 28476224 )
2017
24
Oxytocin intranasal administration as a new hope for hypogonadotropic hypogonadism patients. ( 29150303 )
2017
25
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1. ( 28160246 )
2017
26
Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism. ( 28485664 )
2017
27
Characteristics of a nationwide cohort of patients presenting with Isolated Hypogonadotropic Hypogonadism (IHH). ( 28882981 )
2017
28
Boucher NeuhAouser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6. ( 27866050 )
2017
29
Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism. ( 28698240 )
2017
30
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. ( 29280744 )
2017
31
Reversal of hypogonadotropic hypogonadism with spontaneous pregnancy in beta-thalassaemia major with transfusional haemosiderosis. ( 28830631 )
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
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. ( 28915117 )
2017
34
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism. ( 28320476 )
2017
35
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. ( 29108899 )
2017
36
Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism. ( 29018155 )
2017
37
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism. ( 29146774 )
2017
38
Similarity of female central (hypogonadotropic) hypogonadism and postmenopause. ( 28438051 )
2017
39
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. ( 28087897 )
2017
40
Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome. ( 29022642 )
2017
41
Hypogonadotropic hypogonadism in human immunodeficiency virus-infected men: uncommonly low testosterone levels. ( 28924485 )
2017
42
Sexual dysfunction in Klinefelter's syndrome patients. ( 27659917 )
2016
43
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. ( 27502037 )
2016
44
Anatomical and clinical aspects of Klinefelter's Syndrome. ( 26823086 )
2016
45
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ( 27086651 )
2016
46
Testicular function during puberty and young adulthood in patients with Klinefelter's syndrome with and without spermatozoa in seminal fluid. ( 27611179 )
2016
47
Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism. ( 26175221 )
2016
48
Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes due to Neurogenin 3 Deficiency. ( 27533310 )
2016
49
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and inA vitro study of a novel small indel in the NR0B1 gene. ( 27035099 )
2016
50
A successful healthy live birth from a female patient with hypogonadotropic hypogonadism and oocytes with unusually large cytoplasmic inclusions. ( 27203307 )
2016

Variations for Hypogonadotropic Hypogonadism

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

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 KEGG:

36
# 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
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
12.18 ANOS1 FGF17 FGF8 FGFR1
4
Show member pathways
11.85 ANOS1 FGF17 FGF8 FGFR1
5
Show member pathways
11.45 FGF17 FGF8 FGFR1
6 9.91 FSHB GNRH1 GNRHR

GO Terms for Hypogonadotropic Hypogonadism

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 9.88 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 9.71 FSHB GNRH1 TAC3
6 aorta morphogenesis GO:0035909 9.55 CHD7 FGF8
7 gonad development GO:0008406 9.51 FGF8 NR0B1
8 inner ear morphogenesis GO:0042472 9.5 CHD7 FGF8 FGFR1
9 generation of neurons GO:0048699 9.49 FGF8 FGFR1
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 9.37 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 for Hypogonadotropic Hypogonadism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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