Hypogonadotropic Hypogonadism

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Hypogonadotropic Hypogonadism:

Name: Hypogonadotropic Hypogonadism 12 12 36 15 70
Klinefelter's Syndrome 12 73 20 43 42 17
Klinefelter Syndrome 12 20 43 44 15 70
Xxy Trisomy 12 20 43 70
Xxy Syndrome 12 20 43
Hypogonadotropism 12 54
47,xxy Syndrome 20 43
47, Xxy 12 20
Congenital Idiopathic Hypogonadotropic Hypogonadism 12
Isolated Congenital Gonadotropin Deficiency 12
Hypogonadism, Hypogonadotropic 39
Klinefelters Syndrome 54
47, Xxy Syndrome 73
Hypogonadism 70


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Disease Ontology 12 DOID:0090070 DOID:1921
KEGG 36 H00255
ICD9CM 34 758.7
MeSH 44 D007713
NCIt 50 C34752
SNOMED-CT 67 405770005
UMLS 70 C0020619 C0022735 C0271623 more

Summaries for Hypogonadotropic Hypogonadism

MedlinePlus Genetics : 43 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 1 with or without anosmia and hypogonadotropic hypogonadism 23 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 Dopamine and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, breast and testes, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

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.

GARD : 20 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 : 73 Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X... more...

Related Diseases for Hypogonadotropic Hypogonadism

Diseases in the Hypogonadotropic Hypogonadism family:

Congenital Hypogonadotropic Hypogonadism

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

(show top 50) (show all 870)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 1 with or without anosmia 33.5 FGFR1 ANOS1
2 hypogonadotropic hypogonadism 23 without anosmia 33.2 PROKR2 GNRHR GNRH1 ANOS1
3 hypogonadotropic hypogonadism 7 with or without anosmia 33.1 SPRY4 PROKR2 GNRHR GNRH1 FGFR1 FGF17
4 adrenal hypoplasia, congenital 33.1 NR0B1 GNRHR GNRH1
5 isolated gonadotropin-releasing hormone deficiency 33.0 GNRHR GNRH1
6 congenital hypogonadotropic hypogonadism 32.4 KISS1R GNRHR FGFR1 DUSP6 CHD7 ANOS1
7 hartsfield syndrome 32.2 FGFR1 FGF8
8 kallmann syndrome 31.8 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
9 charge syndrome 31.6 TACR3 TAC3 PROKR2 PROK2 KISS1R GNRHR
10 amenorrhea 31.6 GNRHR GNRH1 FSHB
11 normosmic congenital hypogonadotropic hypogonadism 31.4 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
12 infertility 31.4 TAC3 KISS1 GNRHR GNRH1 FSHB FGFR1
13 hypopituitarism 31.3 PROKR2 PROK2 GNRH1 FSHB
14 hypogonadism 31.1 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
15 precocious puberty 31.0 KISS1R KISS1 GNRH1
16 coloboma of macula 30.8 TACR3 PROKR2 PROK2 GNRHR FGFR1 FGF8
17 cryptorchidism, unilateral or bilateral 30.7 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
18 pituitary stalk interruption syndrome 30.6 PROKR2 NSMF KISS1R CHD7
19 anovulation 30.6 KISS1 GNRH1 FSHB
20 choanal atresia, posterior 30.5 TACR3 PROKR2 PROK2 NSMF FGFR1 FGF8
21 central precocious puberty 30.5 KISS1R KISS1 GNRH1
22 disorder of sexual development 30.3 PROKR2 NR0B1 KISS1 GNRHR GNRH1 ANOS1
23 idiopathic central precocious puberty 30.2 TACR3 TAC3 PROKR2 KISS1R KISS1
24 premature menopause 30.1 NR0B1 KISS1R KISS1 GNRHR GNRH1 FSHB
25 renal hypodysplasia/aplasia 1 30.1 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
26 septooptic dysplasia 30.0 PROKR2 PROK2 NSMF GNRHR GNRH1 FGFR1
27 disease of mental health 29.5 XIST TACR3 TAC3 KISS1 GNRH1 FGFR1
28 sensorineural hearing loss 29.4 TACR3 TAC3 PROKR2 PROK2 NSMF IL17RD
29 hypogonadotropic hypogonadism 21 with or without anosmia 11.9
30 hypogonadotropic hypogonadism 5 with or without anosmia 11.9
31 hypogonadotropic hypogonadism 10 with or without anosmia 11.9
32 hypogonadotropic hypogonadism 15 with or without anosmia 11.9
33 hypogonadotropic hypogonadism 8 with or without anosmia 11.8
34 hypogonadotropic hypogonadism 11 with or without anosmia 11.8
35 hypogonadotropic hypogonadism 12 with or without anosmia 11.8
36 hypogonadotropic hypogonadism 14 with or without anosmia 11.8
37 hypogonadotropic hypogonadism 20 with or without anosmia 11.8
38 hypogonadotropic hypogonadism 4 with or without anosmia 11.8
39 hypogonadotropic hypogonadism 6 with or without anosmia 11.8
40 hypogonadotropic hypogonadism 13 with or without anosmia 11.8
41 hypogonadotropic hypogonadism 16 with or without anosmia 11.8
42 hypogonadotropic hypogonadism 2 with or without anosmia 11.8
43 hypogonadotropic hypogonadism 9 with or without anosmia 11.8
44 hypogonadotropic hypogonadism 17 with or without anosmia 11.8
45 hypogonadotropic hypogonadism 18 with or without anosmia 11.8
46 hypogonadotropic hypogonadism 19 with or without anosmia 11.8
47 boucher-neuhauser syndrome 11.8
48 hypogonadotropic hypogonadism 3 with or without anosmia 11.8
49 hypogonadotropic hypogonadism 22 with or without anosmia 11.8
50 gordon holmes syndrome 11.8

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.07 CHD7 FGF8 FGFR1 FSHB GNRH1 GNRHR
2 homeostasis/metabolism MP:0005376 10.03 CHD7 DUSP6 FGF8 FGFR1 FSHB GNRH1
3 digestive/alimentary MP:0005381 9.97 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
4 nervous system MP:0003631 9.73 CHD7 FGF17 FGF8 FGFR1 GNRH1 IL17RD
5 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 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
Liraglutide Approved Phase 4 204656-20-2 44147092
Dihydrotachysterol Approved Phase 4 67-96-9 5311071 5281010
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
Nutmeg Approved Phase 4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
12 Fenugreek seed meal Phase 4
13 Fenugreek Phase 4
14 Neurotransmitter Agents Phase 4
15 Antidepressive Agents Phase 4
16 Psychotropic Drugs Phase 4
17 Dopamine Agents Phase 4
18 Serotonin Receptor Agonists Phase 4
19 Serotonin 5-HT1 Receptor Agonists Phase 4
20 Dopamine agonists Phase 4
21 Antipsychotic Agents Phase 4
22 Dopamine Antagonists Phase 4
23 Vitamin D2 Phase 4
24 Ergocalciferols Phase 4
25 Aromatase Inhibitors Phase 4
26 Incretins Phase 4
27 Contraceptive Agents Phase 4
28 Triptorelin Pamoate Phase 4
29 Mace Phase 4
30 Pharmaceutical Solutions Phase 4
31 Follicle Stimulating Hormone Phase 4
32 Vasodilator Agents Phase 4
33 Phosphodiesterase 5 Inhibitors Phase 4
34 Phosphodiesterase Inhibitors Phase 4
35 Vardenafil Dihydrochloride Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
Dutasteride Approved, Investigational Phase 3 164656-23-9 6918296 152945
Ganirelix Approved Phase 3 124904-93-4, 123246-29-7 25081094
Metformin Approved Phase 3 657-24-9 4091 14219
Alendronate Approved Phase 3 121268-17-5, 66376-36-1 2088
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
Dihydrotestosterone Illicit, Investigational Phase 3 521-18-6 10635
49 Anabolic Agents Phase 3
50 Antineoplastic Agents, Hormonal Phase 3

Interventional clinical trials:

(show top 50) (show all 352)
# 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 Effect of Androgel on Inflammatory Mediators and Oxidative Stress in Type 2 Diabetic Males With Hypogonadism Unknown status NCT00350701 Phase 4 androgel;androgel 10g;placebo
5 The Efficacy of Testosterone Replacement in Treating Middle-Aged Hypogonadal Men With Dysthymia: Parallel Group, Double Blind Randomized Trial Unknown status NCT00260390 Phase 4 Testoviron
6 Treatment of Erectile Dysfunction in Hypogonadal Men With Testosterone Undecanoate i.m. 1000 mg. A Prospective, Multi-Center Clinical Study Phase IV. Unknown status NCT00555087 Phase 4 Testosterone Undecanoate and/or PDE-5
7 The Effect of Testim and Training in a Population Based, Randomized, Placebo-controlled, Double-blinded Study of Hypogonadal Men Unknown status NCT00700024 Phase 4 Testim;placebo
8 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)
9 Testosterone Replacement and Dutasteride Effectiveness (TRADE) Completed NCT00194675 Phase 4 Dutasteride;Testosterone gel;Placebo dutasteride
10 Study on Effects of Testosterone Replacement Therapy in Hypogonadal Type 2 Completed NCT03792321 Phase 4 Testosterone Undecanoate;Placebo
11 Phase 4 Study That Compares the High Density Lipoprotein Cholesterol (HDL) Cholesterol Subgroups of the Patients With Congenital Hypogonadotrophic Hypogonadism With That of the Healthy Control Subjects, and Investigates the Effect of Testosterone Treatment on HDL Subgroups. Completed NCT01454011 Phase 4 Testosteron 250mg injection;Testosterone 50mg transdermal application
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 Phase IV Study to Investigate the Effect of Testosterone Treatment on Paraoxonase Level in Male Patients With Hypogonadotrophic Hypogonadism Completed NCT01107067 Phase 4 Sustanon
14 Aripiprazole Treatment for Antipsychotic Induced Hyperprolactinaemia in Patients With Severe Mental Illness and Learning Disabilities Completed NCT01085383 Phase 4 Aripiprazole
15 A Randomized, Double-blind, Placebo Controlled Trial to Evaluate the Effects of Vitamin D Supplementation on Androgen Levels in Hypogonadal Men Completed NCT01748370 Phase 4 Vitamin D supplementation in hypogonadal men;Vitamin D supplementation in eugonadal men;Placebo hypogonadal;Placebo eugonadal
16 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Completed NCT02408445 Phase 4 testosterone cypionate 200mg/ml
17 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
18 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
19 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
20 Effects of Liraglutide and Testosterone Replacement Therapy on Features of Hypogonadism and Weight Loss in Obese Men With Persistent Features of Hypogonadism. Completed NCT03619330 Phase 4 liraglutide;Testosterone
21 Xiaflex® Plus Testosterone Treatment Pilot Study Protocol A Six-month, Pilot Project of Testosterone Treatment in Subjects Who Are Undergoing Xiaflex® Therapy for the Treatment of Peyronie's Disease Completed NCT03815331 Phase 4 Xiaflex®;Aveed
22 Effects of Testosterone on Myocardial Repolarization in Patients With Hypogonadism With/Without Chronic Heat Failure (NYHA Class I-II) Completed NCT03126656 Phase 4 Testosterone Undecanoate
23 The Effect of Testosterone Replacement in Patients With Hypogonadotrophic Hypogonadism Due to Opioid Treatment for Non-malignant Disease Completed NCT02433730 Phase 4 Testosterone;placebo
24 MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism in Patients With Prostate Cancer: Orchiectomy vs. Triptorelin Completed NCT02102646 Phase 4 Triptorelin
25 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
26 A 150-Day, Prospective, Phase 4, Open-Label Study, Evaluating Patient Satisfaction and Symptom Improvement When Treating Male Hypogonadism With Testosterone Nasal Gel (Natesto™) Completed NCT02937740 Phase 4 NATESTO Testosterone Nasal Gel
27 Phase 4 Study That Evaluates the Effects of Two Different Testosterone Replacement Regiments on Endothelial Dysfunction, Inflammation and Insulin Resistance in Male Subjects With Hypogonadotrophic Hypogonadism. Completed NCT01533129 Phase 4 Testogel 50 mg transdermal gel;Testosterone 250mg injection
28 A Randomised, Double Blind, Placebo-controlled Parallel Study to Test the Effect of Testosterone Treatment on Peripheral Vascular Disease in Hypogonadal Men With Type 2 Diabetes Mellitus Completed NCT00355537 Phase 4 Testosterone;0.9% saline
29 Effect of Testosterone Replacement on Insulin Resistance in Hypogonadal, Non-obese Men With Metabolic Syndrome Completed NCT00487734 Phase 4 Placebo for testosterone gel
30 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
31 Effectiveness of Testosterone Replacement Therapy (TRT) on Prostatic Gland in Hypogonadal Patients Affected by Benign Prostatic Hyperplasia (BPH) and Metabolic Syndrome (MetS). Florence-PROTEST Completed NCT02366975 Phase 4 Testosterone gel 2%
32 The Effect of Testosterone Topical Solution (LY900011) in Hypogonadal Men With Suboptimal Response to a Topical Testosterone Gel Completed NCT01893281 Phase 4 Topical Testosterone Solution
33 Phase IV Study of The Therapy of Long-acting Testosterone Undecanoate,1000mg in 4 ml Oily Solution for i.m.Injection(Nebido) as Mono or in Combination With PDE-5 Inhibitors in Hypogonadal Patients With Erectile Dysfunction Completed NCT00421460 Phase 4 Testosterone Undecanoate,1000mg
34 A Randomised Double Blind Placebo Controlled, Parallel Pilot Study to Test the Effect of Testosterone Replacement on Glycaemic Control and Arterial Wall Properties of Hypogonadal Men With Type 2 Diabetes Treated With Insulin Completed NCT00349362 Phase 4 Testosterone;0.9% saline
35 A Randomised, Double Blind, Placebo Controlled, Parallel Pilot Study to Test the Effect of Testosterone Treatment on Peripheral Vascular Disease in Hypogonadal Men With Type 2 Diabetes Mellitus Completed NCT00504712 Phase 4 Testosterone;saline
36 Effects of Testosterone Replacement on Atherosclerosis Progression in Older Men With Low Testosterone Levels Completed NCT00287586 Phase 4 Testosterone Gel (Androgel);Placebo
37 Phase 4 Study of About the Effect of Testosterone Treatment on the Components of Metabolic Syndrome Completed NCT01160341 Phase 4 Testosteron
38 Testosterone Replacement in Metabolic Syndrome and Inflammation of Fat Tissue Completed NCT01123278 Phase 4 Testosterone;Placebo
39 Efficacy and Safety of a Mixed Extract of Fenugreek Seed and Lespedeza Cuneata in the Treatment of Testosterone Deficiency Syndrome: A Randomized, Double-blind, Placebo-Controlled Clinical Trial Completed NCT03057899 Phase 4 TFG capsules (200 mg /capsule);Placebo oral capsule
40 Natesto Effects on Testosterone, Luteinizing Hormone, Follicle Stimulating Hormone and Semen Parameters Completed NCT03203681 Phase 4 Natesto
41 Dutasteride in Men Receiving Testosterone Therapy: Impact on Serum PSA, Testosterone, DHT Levels and Prostate Volume: "Implications for Prostate Safety" Completed NCT00752869 Phase 4 dutasteride;placebo
42 Subcutaneous Testosterone Therapy in Men Compared to Intramuscular Testosterone Therapy in Men Completed NCT03091348 Phase 4 Testosterone
43 Testosterone Therapy of Men With Type 2 Diabetes Mellitus (T2DM) - a Randomised, Doubleblinded and Placebocontrolled Trial of Men With Subnormal Testosterone Levels and T2DM. Completed NCT01560546 Phase 4 Testosterone;Placebo
44 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
45 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
46 Testosterone Replacement Therapy for Assessment of Long-term Vascular Events and Efficacy ResponSE in Hypogonadal Men (TRAVERSE) Study Recruiting NCT03518034 Phase 4 Testosterone;Placebo
47 Testosterone Therapy and Bone Quality in Men With Diabetes and Hypogonadism Recruiting NCT03887936 Phase 4 Testosterone gel 1.62%;Placebo
48 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
49 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
50 An Open-Label, Randomized, Parallel-Group, Three Treatment Arm, Multicenter Study on Hypogonadal Males to Evaluate the Effect on 24-Hour Ambulatory Blood Pressure After 16-Week Continuous Administration With Marketed Testosterone Products Recruiting NCT04456296 Phase 4 Aveed Injectable Product, Fortesta or Testim

Search NIH Clinical Center for Hypogonadotropic Hypogonadism

Inferred drug relations via UMLS 70 / NDF-RT 51 :

2-Bromoergocryptine Mesylate
Black Cohosh Extract
Estradiol acetate
estradiol cypionate
estradiol valerate
Estrogens, Conjugated (USP)
Estrogens, Esterified (USP)
Ethinyl Estradiol
Ethynodiol Diacetate
norethindrone acetate
polyestradiol phosphate
Sodium estrone sulfate
synthetic conjugated estrogens, A
synthetic conjugated estrogens, B
testosterone cypionate
testosterone enanthate
Testosterone Propionate
testosterone undecanoate

Cochrane evidence based reviews: klinefelter syndrome

Genetic Tests for Hypogonadotropic Hypogonadism

Anatomical Context for Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism:

Pituitary, Breast, Testes, Bone, Prostate, Testis, Endothelial

Publications for Hypogonadotropic Hypogonadism

Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 4064)
# Title Authors PMID Year
Expression profile of microRNAs in the testes of patients with Klinefelter syndrome. 42
32651451 2020
Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage. 42
32071206 2020
Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction? 42
32103742 2020
Mutations of the KISS1 gene in disorders of puberty. 54 61
20237166 2010
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
Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. 61 54
19072570 2008
Establishment and clinical application of enzyme immunoassays for determination of luteinizing hormone releasing hormone and metastin. 61 54
17486693 2007
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 61 54
17164310 2007
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. 54 61
17200176 2007
Genetic insights into human isolated gonadotropin deficiency. 61 54
17624596 2007
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 54 61
16968799 2006
Treatment of mediastinal immature teratoma in a child with precocious puberty and Klinefelter's syndrome. 61 54
17062277 2006
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 54 61
16882753 2006
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. 54 61
16868131 2006
Transmission of male infertility and intracytoplasmic sperm injection (mini-review). 54 61
16909765 2006
Masculinizing genitoplasty in intersex patients. 54 61
16148681 2005
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. 54 61
15598687 2005
Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis. 54 61
16286771 2005
Immunoexpression of androgen receptors and aromatase in testes of patient with Klinefelter's syndrome. 54 61
15704647 2004
Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter's syndrome. 54 61
11925377 2002
Efficacy and safety of recombinant human follicle-stimulating hormone in men with isolated hypogonadotropic hypogonadism. 61 54
11821082 2002
Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis. 61 54
11473958 2001
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. 61 54
10202890 1999
Computer assisted sperm motility analysis at the moment of induced pregnancy during gonadotropin treatment for hypogonadotropic hypogonadism. 54 61
8282963 1993
Testosterone normalizes plasma vasopressin response to osmotic stimuli in men with hypogonadism. 54 61
7920892 1993
Both hyper- and hypogonadotropic hypogonadism occur transiently in acute illness: bio- and immunoactive gonadotropins. 54 61
1464665 1992
Immunohistochemical localization of inhibin-alpha in the testes of normal men and in men with testicular disorders. 61 54
2096111 1990
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. 61
33468338 2021
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia. 61
33210227 2021
Reduced FSH and LH action: implications for medically assisted reproduction. 61
33792685 2021
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes. 61
33719213 2021
Triglyceride-Glucose Index Levels in Patients with Congenital Hypogonadotropic Hypogonadism and Relationship with Endothelial Dysfunction and Insulin Resistance. 61
33749808 2021
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience. 61
33775534 2021
Molecular clues in the regulation of mini-puberty involve neuronal DNA binding transcription factor NHLH2. 61
33731013 2021
Effect of diet-induced obesity on Kiss1/Tac3/Pdyn gene expressions in the arcuate nucleus and luteinizing hormone secretion in sex hormone-primed male and female rats. 61
33794282 2021
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene. 61
33650466 2021
The impact of early and successful orchidopexy on hormonal follow-up for 208 boys with bilateral non-syndromic cryptorchidism. 61
33423103 2021
Predictors of reproductive and non-reproductive outcomes of gonadotropin mediated pubertal induction in male patients with congenital hypogonadotropic hypogonadism (CHH). 61
33738751 2021
Bone structure assessed with pQCT in prepubertal males with delayed puberty or congenital hypogonadotropic hypogonadism. 61
33738832 2021
Serum insulin-like factor 3 quantification by LC-MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndrome. 61
33483888 2021
Compromised Volumetric Bone Density and Microarchitecture in men with Congenital Hypogonadotropic Hypogonadism. 61
33725720 2021
ENDO-ERN expert opinion on the differential diagnosis of pubertal delay. 61
33512657 2021
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. 61
33369061 2021
Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature. 61
32537678 2021
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. 61
32870266 2021
Diagnosis and management of of primary amenorrhea and female delayed puberty. 61
33687345 2021
A review of hypogonadotropic hypogonadism cases followed up in our clinic in the last decade. 61
31622170 2021
A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene. 61
33592857 2021
Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients. 61
33548149 2021
Patient-reported outcomes and biochemical alterations during hormonal therapy in men with hypogonadotropic hypogonadism who have finished infertility treatment. 61
33012744 2021

Variations for Hypogonadotropic Hypogonadism

Copy number variations for Hypogonadotropic Hypogonadism from CNVD:

7 (show all 23)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 132541 19 59310648 59326954 Microdeletion PRPF31 Klinefelter syndrome
2 266741 Y 1 57772954 Deletion Klinefelter syndrome
3 266742 Y 1 57772954 Deletion Klinefelter syndrome
4 266747 Y 1 57772954 Microdeletion 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 CDY2A Klinefelter syndrome
8 266803 Y 11300000 27200000 Microdeletio CSPG4P1Y Klinefelter syndrome
9 266805 Y 11300000 27200000 Microdeletio DAZ1 Klinefelter syndrome
10 266807 Y 11300000 27200000 Microdeletio EIF1AY Klinefelter syndrome
11 266809 Y 11300000 27200000 Microdeletio GOLGA2P2Y Klinefelter syndrome
12 266811 Y 11300000 27200000 Microdeletio HSFY1 Klinefelter syndrome
13 266813 Y 11300000 27200000 Microdeletio PRY Klinefelter syndrome
14 266815 Y 11300000 27200000 Microdeletio Klinefelter syndrome
15 266817 Y 11300000 27200000 Microdeletio Klinefelter syndrome
16 266819 Y 11300000 27200000 Microdeletio KDM5D Klinefelter syndrome
17 266821 Y 11300000 27200000 Microdeletio XKRY Klinefelter syndrome
18 266855 Y 11300000 57772954 Microdeletion AZF1 Klinefelter syndrome
19 266856 Y 11300000 57772954 Microdeletion AZF1 Klinefelter syndrome
20 266859 Y 11300000 57772954 Microdeletion Klinefelter syndrome
21 266866 Y 11300000 57772954 Microdeletion PPIB Klinefelter syndrome
22 266921 Y 13322553 13482162 Microdeletion USP9Y 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:

# 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
Show member pathways
Show member pathways
Show member pathways
12.27 FGFR1 FGF8 FGF17 ANOS1
4 12.05 TACR3 FGFR1 FGF8 FGF17
Show member pathways
11.99 GNRH1 FGFR1 FGF8 FGF17
Show member pathways
11.85 FGFR1 FGF8 FGF17 ANOS1
Show member pathways
11.53 FGFR1 FGF8 FGF17
8 11.42 GNRH1 FGFR1 FGF8 FGF17

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 TAC3 PROK2 KISS1 GNRH1 FSHB FGFR1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10 SPRY4 GNRHR GNRH1 FGFR1 FGF8 FGF17
2 positive regulation of cell proliferation GO:0008284 9.85 PROK2 FSHB FGFR1 FGF8 FGF17
3 response to organic cyclic compound GO:0014070 9.67 GNRH1 FGF8 DUSP6
4 MAPK cascade GO:0000165 9.65 IL17RD FGFR1 FGF8 FGF17 DUSP6
5 female pregnancy GO:0007565 9.61 TAC3 GNRH1 FSHB
6 positive regulation of blood pressure GO:0045777 9.51 TACR3 TAC3
7 aorta morphogenesis GO:0035909 9.48 FGF8 CHD7
8 neuropeptide signaling pathway GO:0007218 9.46 TAC3 PROKR2 PROK2 KISS1R
9 gonad development GO:0008406 9.4 NR0B1 FGF8
10 male sex determination GO:0030238 9.37 NR0B1 GNRH1
11 tachykinin receptor signaling pathway GO:0007217 9.32 TACR3 TAC3
12 G protein-coupled receptor signaling pathway GO:0007186 9.28 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
13 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 9.16 FGF8 FGF17
2 type 1 fibroblast growth factor receptor binding GO:0005105 8.96 FGF8 FGF17
3 type 2 fibroblast growth factor receptor binding GO:0005111 8.62 FGF8 FGF17

Sources for Hypogonadotropic Hypogonadism

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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