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MCID: HYP730
MIFTS: 52

Hypogonadotropic Hypogonadism

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

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MalaCards integrated aliases for Hypogonadotropic Hypogonadism:

Name: Hypogonadotropic Hypogonadism 12 12 36 15 71
Klinefelter's Syndrome 12 74 52 25 42 15 17
Klinefelter Syndrome 12 52 25 43 71
Xxy Trisomy 12 52 25 71
Xxy Syndrome 12 52 25
Hypogonadotropism 12 54
47,xxy Syndrome 52 25
47, Xxy 12 52
Congenital Idiopathic Hypogonadotropic Hypogonadism 12
Isolated Congenital Gonadotropin Deficiency 12
Hypogonadism, Hypogonadotropic 39
Klinefelters Syndrome 54
47, Xxy Syndrome 74

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0090070 DOID:1921
KEGG 36 H00255
ICD9CM 34 758.7
MeSH 43 D007713
NCIt 49 C34752
SNOMED-CT 67 22053006
ICD10 32 E23.0 Q98.0
UMLS 71 C0022735 C0271623 C2930823
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Summaries for Hypogonadotropic Hypogonadism

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Genetics Home Reference : 25 Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed. Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. As a result of the small testes and decreased hormone production, affected males are infertile but may benefit from assisted reproductive technologies. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis). Other physical changes associated with Klinefelter syndrome are usually subtle. Older children and adults with the condition tend to be somewhat taller than their peers. Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Children with Klinefelter syndrome may have low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. Boys and men with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. Individuals with Klinefelter syndrome tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention-deficit/hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder. Nearly half of all men with Klinefelter syndrome develop metabolic syndrome, which is a group of conditions that include type 2 diabetes, high blood pressure (hypertension), increased belly fat, high levels of fats (lipids) such as cholesterol and triglycerides in the blood. Compared with unaffected men, adults with Klinefelter syndrome also have an increased risk of developing involuntary trembling (tremors), breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.)

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 Zinc and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and bone, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Disease Ontology : 12 A chromosomal duplication syndrome that is characterized by infertility and that has material basis in an extra X chromosome in cells in men.

NIH Rare Diseases : 52 People with 47, XXY have an extra chromosome . The X and Y chromosomes are the sex chromosomes . Females usually have two X chromosomes (46, XX) and males usually have one X and one Y chromosome (46, XY). People with 47, XXY have two X chromosomes and one Y chromosome. Some people with 47, XXY may have no noticeable signs or symptoms (features) or only mild features. Others may have more moderate to severe features. Common symptoms of 47, XXY include low testosterone , infertility , speech and language problems , and learning difficulties . Although the majority of people with 47, XXY identify as males (gender identity ), some people with 47, XXY identify as female, intersex, transgender, or prefer not to identify with a gender at all. A diagnosis of 47, XXY may be suspected by signs and symptoms and confirmed by genetic testing . Diagnosis may also be made during prenatal genetic testing or infertility testing. People with 47, XXY are at an increased risk of developing diabetes , metabolic syndrome , osteoporosis , cardiovascular diseases , autoimmmune disorders , and certain mental health problems. Regular screening for these health problems is suggested. Although most males with 47, XXY are infertile , many produce sperm and may be able to conceive with assisted reproduction. A discussion about testosterone therapy with a pediatric endocrinologist is advised, even if the person with 47, XXY does not identify as male. Other features of 47, XXY may be managed by early intervention, speech therapy , occupational therapy , physical therapy , extra help in school, counseling, and social skills training. Less commonly, some woman are found to be 47, XXY. In most of these cases, a change or mutation has been found in a gene that helps control male sexual development. Most often, women with 47, XXY are infertile, but in a few cases they have had children naturally.

MedlinePlus : 42 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

KEGG : 36 Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either absent or inadequate hypothalamic gonadotropin releasing hormone (GnRH) secretion or failure of pituitary gonadotropin secretion. HH can be congenital or acquired. Congenital HH is clinically and genetically heterogeneous. Clinically, the disorder is characterized by an absence of puberty and infertility. The genetic condition is classically divided in 2 groups based on the presence or absence of olfaction dysfunction. Around 50-60% of the affected individuals exhibit anosmia or hyposmia in association with IHH, defining Kallmann syndrome. Acquired HH can be caused by drugs, infiltrative or infectious pituitary lesions, hyperprolactinemia, encephalic trauma, pituitary/brain radiation, exhausting exercise, abusive alcohol or illicit drug intake, and systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X.

Wikipedia : 74 Klinefelter syndrome (KS), also known as 47, XXY is the set of symptoms that result from two or more X... more...

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Related Diseases for Hypogonadotropic Hypogonadism

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Diseases in the Hypogonadotropic Hypogonadism family:

Rare Disorder with Hypogonadotropic Hypogonadism Congenital Hypogonadotropic Hypogonadism

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

(show top 50) (show all 836)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 23 without anosmia 34.9 PROKR2 GNRHR GNRH1 FGFR1 ANOS1
2 hypogonadotropic hypogonadism 7 with or without anosmia 34.6 SPRY4 PROKR2 IL17RD GNRHR GNRH1 FGFR1
3 congenital hypogonadotropic hypogonadism 34.3 GNRHR FGFR1 FGF8 DUSP6 CHD7 ANOS1
4 adrenal hypoplasia, congenital 34.2 NSMF NR0B1 GNRHR GNRH1
5 hartsfield syndrome 33.1 FGFR1 FGF8
6 normosmic congenital hypogonadotropic hypogonadism 32.9 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
7 kallmann syndrome 32.4 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
8 charge syndrome 32.0 TACR3 TAC3 PROKR2 PROK2 NSMF KISS1R
9 amenorrhea 31.8 GNRHR GNRH1 FSHB
10 hypopituitarism 31.5 PROKR2 PROK2 GNRH1 FSHB
11 precocious puberty 31.3 KISS1R KISS1 GNRH1
12 renal hypodysplasia/aplasia 1 31.0 PROKR2 PROK2 GNRH1 FGFR1 FGF8 ANOS1
13 anovulation 30.9 KISS1 GNRH1 FSHB
14 hypogonadism 30.9 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
15 central precocious puberty 30.7 KISS1R KISS1 GNRH1
16 choanal atresia, posterior 30.7 TACR3 PROKR2 PROK2 NSMF FGFR1 FGF8
17 coloboma of macula 30.7 TACR3 PROKR2 PROK2 NSMF KISS1R GNRHR
18 cryptorchidism, unilateral or bilateral 30.6 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
19 sensorineural hearing loss 30.4 TACR3 PROKR2 FGFR1 FGF8 CHD7 ANOS1
20 idiopathic central precocious puberty 30.3 TACR3 TAC3 KISS1R KISS1
21 septooptic dysplasia 30.2 PROKR2 PROK2 NSMF GNRHR GNRH1 FGFR1
22 hemifacial microsomia 30.1 FGFR1 FGF8
23 disorders of sexual development 29.8 PROKR2 NR0B1 KISS1R KISS1 GNRHR GNRH1
24 hypogonadotropic hypogonadism 1 with or without anosmia 13.0
25 hypogonadotropic hypogonadism 21 with or without anosmia 12.9
26 hypogonadotropic hypogonadism 5 with or without anosmia 12.9
27 hypogonadotropic hypogonadism 10 with or without anosmia 12.9
28 hypogonadotropic hypogonadism 8 with or without anosmia 12.9
29 hypogonadotropic hypogonadism 12 with or without anosmia 12.9
30 hypogonadotropic hypogonadism 14 with or without anosmia 12.9
31 hypogonadotropic hypogonadism 20 with or without anosmia 12.9
32 hypogonadotropic hypogonadism 4 with or without anosmia 12.9
33 hypogonadotropic hypogonadism 6 with or without anosmia 12.9
34 hypogonadotropic hypogonadism 11 with or without anosmia 12.9
35 hypogonadotropic hypogonadism 13 with or without anosmia 12.9
36 hypogonadotropic hypogonadism 15 with or without anosmia 12.9
37 hypogonadotropic hypogonadism 16 with or without anosmia 12.9
38 hypogonadotropic hypogonadism 2 with or without anosmia 12.9
39 hypogonadotropic hypogonadism 9 with or without anosmia 12.9
40 hypogonadotropic hypogonadism 17 with or without anosmia 12.9
41 hypogonadotropic hypogonadism 19 with or without anosmia 12.9
42 hypogonadotropic hypogonadism 3 with or without anosmia 12.9
43 hypogonadotropic hypogonadism 22 with or without anosmia 12.9
44 hypogonadotropic hypogonadism 18 with or without anosmia 12.9
45 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.9
46 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.9
47 hypogonadotropic hypogonadism 24 without anosmia 12.7
48 hypogonadotropic hypogonadism 25 with anosmia 12.7
49 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 12.6
50 boucher-neuhauser syndrome 12.5

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



Diseases related to Hypogonadotropic Hypogonadism
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Symptoms & Phenotypes for Hypogonadotropic Hypogonadism

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MGI Mouse Phenotypes related to Hypogonadotropic Hypogonadism:

45
# 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 homeostasis/metabolism MP:0005376 10.03 CHD7 DUSP6 FGF8 FGFR1 FSHB GNRH1
4 digestive/alimentary MP:0005381 10.02 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
5 nervous system MP:0003631 9.73 CHD7 FGF17 FGF8 FGFR1 GNRH1 IL17RD
6 reproductive system MP:0005389 9.44 CHD7 FGF8 FGFR1 FSHB GNRH1 GNRHR
Sources

Drugs & Therapeutics for Hypogonadotropic Hypogonadism

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

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
7 Estrogen Receptor Antagonists Phase 4
8 Estrogen Antagonists Phase 4
9 Estrogens Phase 4
10 Insulin, Globin Zinc Phase 4
11 insulin Phase 4
12 Vitamins Phase 4
13 Mitogens Phase 4
14 Calciferol Phase 4
15 Estrogens, Conjugated (USP) Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Anabolic Agents Phase 4
18 Aromatase Inhibitors Phase 4
19 Hormone Antagonists Phase 4
20 Hormones Phase 4
21 Follicle Stimulating Hormone Phase 4
22 Chorionic Gonadotropin Phase 4
23 Estradiol 17 beta-cypionate Phase 4
24 Estradiol 3-benzoate Phase 4
25
Atorvastatin Approved Phase 3 134523-00-5 60823
26
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
27 Prolactin Release-Inhibiting Factors Phase 3
28 Gastrointestinal Agents Phase 2, Phase 3
29 Cathartics Phase 2, Phase 3
30 Castor Phase 2, Phase 3
31 Laxatives Phase 2, Phase 3
32 Gonadotropins, Pituitary Phase 3
33 carnitine Phase 3
34 Hypolipidemic Agents Phase 3
35 Lipid Regulating Agents Phase 3
36 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
37 Anticholesteremic Agents Phase 3
38 Antimetabolites Phase 3
39
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
40
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
41
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 10204 6013
42
Testosterone enanthate Approved Phase 2 315-37-7 9416
43
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
44
Methyltestosterone Approved Phase 2 58-18-4 6010
45
Menotropins Approved Phase 2 61489-71-2, 9002-68-0 5360545
46
Sodium citrate Approved, Investigational Phase 2 68-04-2
47
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
48
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
49
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
50
Enclomiphene Investigational Phase 2 15690-57-0

Interventional clinical trials:

(show top 50) (show all 118)
# Name Status NCT ID Phase Drugs
1 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin is Superior to Human Chorionic Gonadotropin in Therapeutic Efficacy in Adolescent Boys With Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
2 Study on the 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 by Using Recombinant Luteinizing Hormone (rLH) and Recombinant Follicle Stimulating Hormone (rFSH) in Patients With Hypogonadotropic Hypogonadism Unknown status NCT02140515 Phase 4 Lutropin alfa;Follitropin alfa and Lutropin alfa
4 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Completed NCT02408445 Phase 4 testosterone cypionate 200mg/ml
5 Efficacy and Safety of Human Chorionic Gonadotropin (HCG) and Follicle Stimulating Hormone (FSH) in the Treatment of 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 Three Different Medications on Metabolic Parameters and Testicular Volume in Patients With Hypogonadotropic Hypogonadism-Last Three Years Experience Completed NCT01601327 Phase 4 Testosterone enanthate (Sustanon 250 mg);Human chorionic gonadotropin (hCG) (Pregnyl 5000 IU);Testosteron gel (Testojel 50 mg)
7 Phase 4 Study That Evaluates the Presence of Endothelial Dysfunction, Inflammation and Insulin Resistance in Male Subjects With Hypogonadotrophic Hypogonadism and Effects of Two Different Testosterone Replacement Regiments on These Parameters. Completed NCT02171390 Phase 4 Testosterone 250mg injection;Testosteron 50 mg transdermal gel
8 Phase 4 Study of 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 Phase 4 Study of Effect of Testosteron Treatment on the Visceral Adiposity Index and Triglyceride/High-density Lipoprotein Cholesterol Ratio in the Congenital Hypogonadotropic Hypogonadism Completed NCT02111434 Phase 4 Testosterone
10 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
11 To Define the Individual Need of Exogenous LH During Ovarian Stimulation for Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
12 Effect of Hypogonadotrophic Hypogonadism and Treatment With Testosterone on Insulin Sensitivity, Inflammation, Body Composition and Sexual Function in Obese and Type 2 Diabetic Men Completed NCT01127659 Phase 4 testosterone;placebo
13 Effect Of Hormone Replacement Therapy On Disease Activity, Menopausal Symptoms And Bone Mineral Density In Peri/Postmenopausal Women With Systemic Lupus Erythematosus.Randomized Clinical Trial Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
14 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
15 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
16 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in the Treatment of Male Patients With Isolated Hypogonadotropic Hypogonadism: an Open, Randomized Controlled Study Recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
17 A Phase IV, Multicenter, Randomized, Double-blinded, Clinical Trial to Confirm the Efficacy of the 75 IU Dose of Luveris® vs. Placebo When Administered With Follitropin Alfa for Induction of Follicular Development and Pregnancy in Hypogonadotropic Hypogonadal Women With Profound LH Deficiency, as Defined by a Baseline LH Level <1.2 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 A Multicenter, Double-Blind, Randomized, Placebo-Controlled Study Evaluating Three Doses of Subcutaneous Pulsatile GnRH Administered Via OmniPod Pump for Ovulation Induction in Female Subjects With Primary Amenorrhea With Hypogonadotropic Hypogonadism Completed NCT01976728 Phase 3 Gonadorelin acetate subcutaneous (SC) 10 μg/pulse as a fixed dose, administered via. OmniPod pump;Gonadorelin acetate SC 15 μg/pulse as a fixed dose, administered via. OmniPod pump;Gonadorelin acetate SC 20 μg/pulse as a fixed dose, administered via. OmniPod pump;Placebo (SC 10, 15, or 20 μg/pulse as a fixed dose, administered via. OmniPod pump)
19 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
20 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
21 Clinical Trial on Application of Injectable Recombinant Human Luteinizing Hormone (Luveris®) in the Treatment of Chinese Female Patients With Hypogonadotropic Hypogonadism: A Multi-center, Open, Prospective Drug Clinical Trial for Registration Completed NCT01084265 Phase 3 Recombinant human luteinizing hormone (r-hLH);Recombinant human follicle-stimulating hormone (r-hFSH);Human chorionic gonadotropin (hCG)
22 A Phase III, Multi-Center, Open Label, Single-Group Trial to Investigate the Efficacy and Safety of MK-8962 (Corifollitropin Alfa) in Combination With Human Chorionic Gonadotropin (hCG) for Initiation or Restoration of Puberty as Assessed by Increased Testicular Volume in Adolescent Males 14 to <18 Years Old With Hypogonadotropic Hypogonadism (Phase III; Protocol No. MK-8962-043-00) Completed NCT03019575 Phase 3 Corifollitropin alfa;hCG
23 A Randomized, Double Blind, Placebo Controlled Multi-Center Phase III Study to Evaluate Normalization of Morning Testosterone Levels in Overweight Men With Acquired Hypogonadotropic Hypogonadism and Normal Sperm Concentration Completed NCT01739595 Phase 3 enclomiphene citrate;Placebo
24 A Randomized, Double Blind, Placebo Controlled Multi-Center Phase III Study to Evaluate Normalization of Morning Testosterone Levels in Overweight Men With Acquired Hypogonadotropic Hypogonadism and Normal Sperm Concentration Completed NCT01532414 Phase 3 Androxal;Placebo
25 A Phase III, Multi-center, Open Label, Uncontrolled Trial to Investigate the Efficacy and Safety of MK-8962 (Corifollitropin Alfa) in Combination With Human Chorionic Gonadotropin (hCG) in Inducing Increased Testicular Volume and Spermatogenesis in Adult Men With Hypogonadotropic Hypogonadism Who Remain Azoospermic When Treated With hCG Alone (Phase III; Protocol No. MK-8962-031-00 [Also Known as SCH 900962, P07937]) Completed NCT01709331 Phase 3 Corifollitropin alfa;hCG
26 Androgen Treatment in Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
27 Parallel-Group Comparative Study of SJ-0021 and Purified Pituitary Gonadotropin in Subjects With Amenorrhea I or Anovulatory Cycles - Phase III Single-Blind Study Completed NCT01185782 Phase 3 Gonalef® (Follitropin alfa);Purified pituitary gonadotropin (Fertinorm-P®)
28 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
29 A Comparison of Clomiphene Citrate Responses in Men With Hypothalamic Hypogonadism naïve to, and Previously Treated With, Testosterone Unknown status NCT01904734 Phase 2 Clomiphene
30 Testicular Injection of Autologous Human Bone Marrow Derived Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
31 Recovery of Gonadal Function by Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Completed NCT00697814 Phase 2 Clomiphene citrate
32 A 6 Month, Double-blind Safety Extension Study of MBGS205 Completed NCT02908074 Phase 2 BGS649
33 A Phase IIb Multicentre, Double-Blind, Dose-Ranging, Randomised, Placebo-Controlled Study Evaluating Safety and Efficacy of BGS649 in Male Obese Subjects With Hypogonadotropic Hypogonadism Completed NCT02730169 Phase 2 BGS649;Placebo
34 Effect of Intranasal Insulin on LH Concentrations in Man Completed NCT02154477 Phase 1, Phase 2 intranasal insulin;placebo (intranasal saline)
35 A Randomized, Double Blind, Placebo-Controlled, 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;Enclomiphene
36 A Study to Evaluate the Efficacy of Androxal® in Improving Glycemic Control in Men With Secondary Hypogonadism or Adult-onset Idiopathic Hypogonadotropic Hypogonadism (AIHH) and Type 2 Diabetes Mellitus With Sub-Optimum Treatment Completed NCT01191320 Phase 2 Placebo;Androxal
37 Androgen Effect on Motor/Cognitive Outcome in Klinefelter Syndrome Completed NCT00348946 Phase 2 androgen oxandrolone
38 Clomiphene Citrate for the Treatment of Opioid-Induced Androgen Deficiency: Randomized Controlled Clinical Trial Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
39 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Oligoasthenoteratozoospermia Completed NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
40 Hypogonadotropic Hypogonadism in Obese Young Males Recruiting NCT03245827 Phase 2 Clomiphene;Placebo
41 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
42 Intra-Testicular Transplantation of Purified Autologous Clusters of Differentiation (CD) 34+,133+, and Mesenchymal Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
43 A Multiple-Dose, Single Period, Phase II Dose Ranging Study to Examine Testagen® TDS-Testosterone 5% in Adult Male Subjects Enrolling by invitation NCT01894308 Phase 2 Testosterone
44 A Single-Dose, Single Period, Phase II Pharmacokinetic Study To Examine Testagenâ„¢ TDS®-Testosterone For Its Potential To Be Inadvertently Transferred By Skin Contact After Dosing In Healthy Adult Subjects Enrolling by invitation NCT02733133 Phase 2 Testagen® TDS Testosterone 5% HypoSpray®
45 Pharmacodynamics and Safety of Human Recombinant Luteinising Hormone in Hypogonadotropic Hypogonadal Men Not yet recruiting NCT04189133 Phase 2 Lutropin alfa;Human chorionic gonadotropin
46 An Open-label Dose Finding Study Followed by a Parallel Group, Randomized, Double-blind Study to Evaluate the Safety, Tolerability and Pharmacodynamics of 12 Week BGS649 Treatment in Obese, Hypogonadotropic Hypogonadal Men Terminated NCT01200862 Phase 2 Investigational new drug company code: BGS649;Placebo
47 An Open-Label, Phase 2a Study to Evaluate the Pharmacodynamics of Different Dosing Regimens of TAK-448, a Kisspeptin Agonist, in Male Overweight/Obese Participants With Hypogonadotropic Hypogonadism Terminated NCT02369796 Phase 2 TAK-448
48 Effect of Hypogonadotropic Hypogonadism and Replacement With Clomiphene Citrate and Testosterone on Insulin Sensitivity, Body Composition, Inflammation, Sexual Function and Spermatogenesis in Young Type 2 Diabetic Men Terminated NCT01155518 Phase 2 testosterone;clomiphene;placebo;placebo
49 Role of FSH in Human Gonadal Development Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
50 Kisspeptin Administration in the Adult Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH

Search NIH Clinical Center for Hypogonadotropic Hypogonadism

Cochrane evidence based reviews: klinefelter syndrome

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Genetic Tests for Hypogonadotropic Hypogonadism

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Anatomical Context for Hypogonadotropic Hypogonadism

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MalaCards organs/tissues related to Hypogonadotropic Hypogonadism:

40
Pituitary, Testes, Bone, Breast, Brain, Testis, Thyroid
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Publications for Hypogonadotropic Hypogonadism

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Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 3944)
# Title Authors PMID Year
1
Sperm retrieval from a male with the rare 47, XXYqs variant of Klinefelter syndrome for intracytoplasmic sperm injection: A case report. 42
31777105 2020
2
Blood Testis Barrier and Somatic Cells Impairment in a Series of 35 Adult Klinefelter Syndrome Patients. 42
31739598 2019
3
Different parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome: A case report. 42
31689873 2019
4
Mutations of the KISS1 gene in disorders of puberty. 61 54
20237166 2010
5
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. 61 54
20139426 2010
6
Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. 61 54
19072570 2008
7
Establishment and clinical application of enzyme immunoassays for determination of luteinizing hormone releasing hormone and metastin. 61 54
17486693 2007
8
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. 54 61
17200176 2007
9
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 61 54
17164310 2007
10
Genetic insights into human isolated gonadotropin deficiency. 61 54
17624596 2007
11
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 61 54
16968799 2006
12
Treatment of mediastinal immature teratoma in a child with precocious puberty and Klinefelter's syndrome. 61 54
17062277 2006
13
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 61 54
16882753 2006
14
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. 61 54
16868131 2006
15
Transmission of male infertility and intracytoplasmic sperm injection (mini-review). 61 54
16909765 2006
16
Masculinizing genitoplasty in intersex patients. 54 61
16148681 2005
17
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. 61 54
15598687 2005
18
Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis. 61 54
16286771 2005
19
Immunoexpression of androgen receptors and aromatase in testes of patient with Klinefelter's syndrome. 54 61
15704647 2004
20
Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter's syndrome. 61 54
11925377 2002
21
Efficacy and safety of recombinant human follicle-stimulating hormone in men with isolated hypogonadotropic hypogonadism. 61 54
11821082 2002
22
Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis. 54 61
11473958 2001
23
Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis. 54 61
10202890 1999
24
Computer assisted sperm motility analysis at the moment of induced pregnancy during gonadotropin treatment for hypogonadotropic hypogonadism. 61 54
8282963 1993
25
Testosterone normalizes plasma vasopressin response to osmotic stimuli in men with hypogonadism. 54 61
7920892 1993
26
Both hyper- and hypogonadotropic hypogonadism occur transiently in acute illness: bio- and immunoactive gonadotropins. 61 54
1464665 1992
27
Immunohistochemical localization of inhibin-alpha in the testes of normal men and in men with testicular disorders. 54 61
2096111 1990
28
Psychosexual effects resulting from delayed, incomplete, or absent puberty. 61
32524038 2020
29
Hormone-related diseases and prostate cancer: An English national record linkage study. 61
31755099 2020
30
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. 61
32319736 2020
31
Hypothalamic and brain stem neurochemical profile in anorectic rats after peripheral administration of kisspeptin-10 using 1 H-nmr spectroscopy in vivo. 61
32253803 2020
32
Distinguishing between hidden testes and anorchia: the role of endocrine evaluation in infancy and childhood. 61
32422605 2020
33
Treatment of Functional Hypogonadism Besides Pharmacological Substitution. 61
31496147 2020
34
Prospects for FSH Treatment of Male Infertility. 61
32374828 2020
35
The wonderful and masterful G protein-coupled receptor (GPCR): A focus on signaling mechanisms and the neuroendocrine control of fertility. 61
32574585 2020
36
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. 61
32376645 2020
37
Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency. 61
32485746 2020
38
Testosterone supplementation rescues spermatogenesis and in vitro fertilizing ability of sperm in Kiss1 knockout mice. 61
32514526 2020
39
Nectin-like molecule 2, a necessary sexual maturation regulator, participates in congenital hypogonadotropic hypogonadism. 61
32535046 2020
40
Genotypic and phenotypic spectra of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism. 61
32520725 2020
41
Occurrence of Pulmonary Oil Microembolism After Testosterone Undecanoate Injection: A Postmarketing Safety Analysis. 61
32184081 2020
42
Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature. 61
32537678 2020
43
CHD7 missense variants and clinical characteristics of Chinese males with infertility. 61
32573075 2020
44
Fertility issues in aggressive pituitary tumors. 61
31984458 2020
45
The effect of excess body fat on female and male reproduction. 61
32119876 2020
46
Androgens During Infancy, Childhood, and Adolescence: Physiology and Use in Clinical Practice. 61
32115641 2020
47
The ominous trio of PCSK1, CHD7 and PAX4: Normosmic hypogonadotropic hypogonadism with maturity-onset diabetes in a young man. 61
32171037 2020
48
Testosterone treatment in male patients with Klinefelter syndrome: a systematic review and meta-analysis. 61
32567016 2020
49
Integrative analysis of genomic and epigenetic regulation of endometrial cancer. 61
32412912 2020
50
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1. 61
32373773 2020
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Variations for Hypogonadotropic Hypogonadism

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Expression for Hypogonadotropic Hypogonadism

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

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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
Signaling by GPCR 65
Show member pathways
 13.19 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
2
Peptide ligand-binding receptors 65
Show member pathways
 13.09 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
3
Negative regulation of FGFR3 signaling 65
Show member pathways
 12.25 FGFR1 FGF8 FGF17 ANOS1
4
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.97 GNRH1 FGFR1 FGF8 FGF17
5
Signaling by FGFR2 65
Show member pathways
 11.85 FGFR1 FGF8 FGF17 ANOS1
6
FGFR1 mutant receptor activation 65
Show member pathways
 11.5 FGFR1 FGF8 FGF17
7
G-protein signaling_RhoA regulation pathway 22
11.4 GNRH1 FGFR1 FGF8 FGF17
8
GnRH secretion 36
11.3 KISS1R KISS1 GNRH1
9
Hormone ligand-binding receptors 65
10.25 GNRHR GNRH1 FSHB
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GO Terms for Hypogonadotropic Hypogonadism

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 TAC3 PROK2 KISS1 GNRH1 FSHB FGFR1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 PROK2 FSHB FGFR1 FGF8 FGF17
2 response to organic cyclic compound GO:0014070 9.72 GNRH1 FGF8 DUSP6
3 female pregnancy GO:0007565 9.7 TAC3 GNRH1 FSHB
4 MAPK cascade GO:0000165 9.65 IL17RD FGFR1 FGF8 FGF17 DUSP6
5 aorta morphogenesis GO:0035909 9.54 FGF8 CHD7
6 inner ear morphogenesis GO:0042472 9.5 FGFR1 FGF8 CHD7
7 generation of neurons GO:0048699 9.49 FGFR1 FGF8
8 male sex determination GO:0030238 9.48 NR0B1 GNRH1
9 gonad development GO:0008406 9.46 NR0B1 FGF8
10 neuropeptide signaling pathway GO:0007218 9.46 TAC3 PROKR2 PROK2 KISS1R
11 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGFR1 FGF8
12 organ induction GO:0001759 9.4 FGFR1 FGF8
13 tachykinin receptor signaling pathway GO:0007217 9.37 TACR3 TAC3
14 G protein-coupled receptor signaling pathway GO:0007186 9.28 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
15 fibroblast growth factor receptor signaling pathway GO:0008543 9.26 FGFR1 FGF8 FGF17 ANOS1

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.62 FGF8 FGF17
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Sources for Hypogonadotropic Hypogonadism

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