Hypogonadotropic Hypogonadism

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Hypogonadotropic Hypogonadism:

Name: Hypogonadotropic Hypogonadism 11 11 28 5 14 71 75
Klinefelter Syndrome 11 19 42 28 5 41 43 14 71 33
Klinefelter's Syndrome 11 42 75 16
Xxy Syndrome 11 42 33
Xxy Trisomy 11 42 71
Hypogonadotropism 11 53
47, Xxy 11 19
Congenital Idiopathic Hypogonadotropic Hypogonadism 11
Isolated Congenital Gonadotropin Deficiency 11
Klinefelter Syndrome Karyotype 47, Xxy 33
Klinefelter Syndrome, Unspecified 33
Klinefelter Syndrome in Males 33
Klinefelters Syndrome 53
47, Xxy Syndrome 75
47,xxy Syndrome 42
Hypogonadism 71


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Disease Ontology 11 DOID:0090070 DOID:1921
ICD9CM 34 758.7
MeSH 43 D007713
NCIt 49 C34752
SNOMED-CT 68 405770005
UMLS 71 C0020619 C0022735 C0271623 more

Summaries for Hypogonadotropic Hypogonadism

MedlinePlus Genetics: 42 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 syndrome, is related to hypogonadotropic hypogonadism 7 with or without anosmia and hypogonadotropic hypogonadism 1 with or without anosmia. An important gene associated with Hypogonadotropic Hypogonadism is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are GPCR downstream signalling and Signal Transduction. The drugs Progesterone and Zinc cation have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and breast, and related phenotypes are homeostasis/metabolism and nervous system

MedlinePlus: 41 Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have: Smaller testes and penis Breast growth Less facial and body hair Reduced muscle tone Narrower shoulders and wider hips Weaker bones Decreased sexual interest Lower energy KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in. A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives. Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help. NIH: National Institute of Child Health and Human Development

Disease Ontology 11 Hypogonadotropic hypogonadism: A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.

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

Wikipedia 75 Hypogonadotropic hypogonadism: Hypogonadotropic hypogonadism (HH), is due to problems with either the hypothalamus or pituitary gland... more...

47, xxy syndrome: Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an... 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 1066)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 33.7 TACR3 SPRY4 PROKR2 GNRHR GNRH1 FGFR1
2 hypogonadotropic hypogonadism 1 with or without anosmia 33.6 PROKR2 FGFR1 ANOS1
3 hypogonadotropic hypogonadism 2 with or without anosmia 33.5 PROKR2 GNRH1 FGFR1 ANOS1
4 hypogonadotropic hypogonadism 23 with or without anosmia 33.4 PROKR2 NSMF GNRHR GNRH1 FGF8 ANOS1
5 gordon holmes syndrome 33.4 PROKR2 NSMF GNRH1
6 adrenal hypoplasia, congenital 33.3 NSMF NR0B1 GNRH1
7 kallmann syndrome 33.2 TACR3 TAC3 SPRY4 PROKR2 PROK2 PRL
8 normosmic congenital hypogonadotropic hypogonadism 32.6 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
9 hypogonadism 32.5 TACR3 TAC3 SPRY4 PROKR2 PROK2 PRL
10 charge syndrome 32.3 TACR3 TAC3 PROKR2 PROK2 NSMF KISS1R
11 hartsfield syndrome 32.3 FGFR1 FGF8
12 penis agenesis 31.8 GNRH1 ANOS1
13 amenorrhea 31.8 PRL GNRHR GNRH1
14 hypopituitarism 31.8 PROKR2 PROK2 PRL GNRH1
15 cryptorchidism, unilateral or bilateral 31.7 TACR3 TAC3 SPRY4 PROKR2 PROK2 PRL
16 azoospermia 31.5 TACR3 PRL NR0B1 KISS1R GNRH1
17 pituitary hormone deficiency, combined, 2 31.5 PROKR2 PRL GNRH1
18 precocious puberty 31.4 KISS1R GNRH1
19 premature menopause 31.3 TAC3 PRL NR0B1 KISS1R KISS1 GNRHR
20 coloboma of macula 31.2 TACR3 PROKR2 PROK2 GNRHR GNRH1 FGFR1
21 renal hypodysplasia/aplasia 1 31.1 TACR3 TAC3 PROKR2 PROK2 NSMF GNRHR
22 tooth agenesis 31.1 FGFR1 FGF8 CHD7 ANOS1
23 pituitary stalk interruption syndrome 31.1 PROKR2 NSMF KISS1R
24 oligospermia 31.0 PRL GNRHR GNRH1
25 cleft lip 31.0 FGFR1 FGF8 CHD7
26 choanal atresia, posterior 31.0 TACR3 PROKR2 PROK2 NSMF GNRHR FGFR1
27 anovulation 31.0 PRL KISS1 GNRH1
28 46,xy sex reversal 30.9 NSMF NR0B1 GNRHR GNRH1
29 central precocious puberty 30.8 TACR3 TAC3 PROKR2 NR0B1 KISS1R KISS1
30 lipoid congenital adrenal hyperplasia 30.7 PRL NR0B1 KISS1 GNRH1
31 sensorineural hearing loss 30.7 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
32 septooptic dysplasia 30.6 TACR3 PROKR2 PROK2 PRL NSMF NR0B1
33 hypothalamic disease 30.5 PRL GNRH1
34 disorder of sexual development 30.5 TACR3 TAC3 PROKR2 PROK2 PRL NR0B1
35 estrogen excess 30.5 PRL GNRH1
36 coloboma of optic nerve 30.4 PROKR2 PROK2 NSMF
37 precocious puberty, male-limited 30.4 KISS1R KISS1 GNRHR GNRH1
38 pseudohermaphroditism 30.4 NR0B1 GNRHR GNRH1
39 conn's syndrome 30.4 PRL NR0B1 GNRHR GNRH1
40 van maldergem syndrome 1 30.2 PRL GNRH1
41 sexual health disorder 30.2 PRL GNRH1
42 hypogonadotropic hypogonadism 21 with or without anosmia 11.9
43 hypogonadotropic hypogonadism 24 with or without anosmia 11.9
44 hypogonadotropic hypogonadism 3 with or without anosmia 11.9
45 hypogonadotropic hypogonadism 14 with or without anosmia 11.9
46 hypogonadotropic hypogonadism 20 with or without anosmia 11.9
47 hypogonadotropic hypogonadism 4 with or without anosmia 11.8
48 hypogonadotropic hypogonadism 5 with or without anosmia 11.8
49 hypogonadotropic hypogonadism 6 with or without anosmia 11.8
50 hypogonadotropic hypogonadism 10 with or without anosmia 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 homeostasis/metabolism MP:0005376 10.34 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
2 nervous system MP:0003631 10.3 CHD7 FGF17 FGF8 FGFR1 GNRH1 GNRHR
3 growth/size/body region MP:0005378 10.22 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
4 endocrine/exocrine gland MP:0005379 10.21 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
5 normal MP:0002873 10.08 FGF8 FGFR1 GNRH1 GNRHR KISS1R NDNF
6 cellular MP:0005384 10 CHD7 DUSP6 FGF8 FGFR1 GNRHR KISS1
7 digestive/alimentary MP:0005381 9.97 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
8 behavior/neurological MP:0005386 9.93 CHD7 FGF17 FGF8 FGFR1 KISS1R NSMF
9 reproductive system MP:0005389 9.8 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
10 skeleton MP:0005390 9.28 CHD7 DUSP6 FGF8 FGFR1 GNRH1 KISS1R

Drugs & Therapeutics for Hypogonadotropic Hypogonadism

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
Liraglutide Approved Phase 4 204656-20-2 44147092 16134956
Dihydrotachysterol Approved Phase 4 67-96-9 5311071
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
Follitropin Approved, Vet_approved Phase 4 97048-13-0, 146479-72-3, 9002-68-0 62819
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
Nutmeg Approved Phase 4
Fenofibrate Approved Phase 4 49562-28-9 3339
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
Polyestradiol phosphate Approved Phase 4 28014-46-2
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
15 Estrogen Receptor Antagonists Phase 4
16 Estrogen Antagonists Phase 4
17 Insulin, Globin Zinc Phase 4
Insulin Phase 4
19 Vitamins Phase 4
20 Trace Elements Phase 4
21 Calciferol Phase 4
22 Calcium, Dietary Phase 4
23 Micronutrients Phase 4
24 Incretins Phase 4
25 Contraceptive Agents Phase 4
Triptorelin Pamoate Phase 4
27 Fenugreek seed meal Phase 4
28 Fenugreek Phase 4
Vitamin D2 Phase 4 3249
30 Ergocalciferols Phase 4
31 Aromatase Inhibitors Phase 4
32 Mace Phase 4
33 Antimetabolites Phase 4
34 Hypolipidemic Agents Phase 4
35 Lipid Regulating Agents Phase 4
36 Estradiol 3-benzoate Phase 4
37 Estradiol 17 beta-cypionate Phase 4
38 Pharmaceutical Solutions Phase 4
39 Follicle Stimulating Hormone Phase 4
40 Phosphodiesterase Inhibitors Phase 4
41 Phosphodiesterase 5 Inhibitors Phase 4
42 Vasodilator Agents Phase 4
43 Vardenafil Dihydrochloride Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4 96919
Stanolone Illicit, Investigational Phase 3 521-18-6 10635

Interventional clinical trials:

(show top 50) (show all 356)
# Name Status NCT ID Phase Drugs
1 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
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 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
4 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
5 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Completed NCT02408445 Phase 4 testosterone cypionate 200mg/ml
6 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Completed NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
7 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
8 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
9 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)
10 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
11 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
12 MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism in Patients With Prostate Cancer: Orchiectomy vs. Triptorelin Completed NCT02102646 Phase 4 Triptorelin
13 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
14 The Effect of Testosterone Replacement in Patients With Hypogonadotrophic Hypogonadism Due to Opioid Treatment for Non-malignant Disease Completed NCT02433730 Phase 4 Testosterone;placebo
15 Phase IV Study to Investigate the Effect of Testosterone Treatment on Paraoxonase Level in Male Patients With Hypogonadotrophic Hypogonadism Completed NCT01107067 Phase 4 Sustanon
16 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
17 Effect of Androgel on Inflammatory Mediators and Oxidative Stress in Type 2 Diabetic Males With Hypogonadism Completed NCT00350701 Phase 4 androgel;androgel 10g;placebo
18 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
19 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
20 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
21 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
22 A Phase IV, Multi-center, Open-label, Single-arm 24-hour Ambulatory Blood Pressure Monitoring (ABPM) Study of 16 Weeks Treatment With Androderm® in Hypogonadal Men Completed NCT04320745 Phase 4 Androderm®
23 Study on Effects of Testosterone Replacement Therapy in Hypogonadal Type 2 Completed NCT03792321 Phase 4 Testosterone Undecanoate;Placebo
24 Subcutaneous Testosterone Therapy in Men Compared to Intramuscular Testosterone Therapy in Men Completed NCT03091348 Phase 4 Testosterone
25 Effect of Testosterone Replacement on Insulin Resistance in Hypogonadal, Non-obese Men With Metabolic Syndrome Completed NCT00487734 Phase 4 Placebo for testosterone gel
26 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
27 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
28 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
29 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
30 24-Hour Ambulatory Blood Pressure Monitoring Study in Hypogonadal Men Receiving Testosterone Replacement Therapy Completed NCT04274894 Phase 4 AndroGel 1.62%
31 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
32 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
33 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
34 Testosterone Replacement and Dutasteride Effectiveness (TRADE) Completed NCT00194675 Phase 4 Dutasteride;Testosterone gel;Placebo dutasteride
35 Testosterone Replacement in Metabolic Syndrome and Inflammation of Fat Tissue Completed NCT01123278 Phase 4 Testosterone;Placebo
36 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
37 Effects of Testosterone Replacement on Atherosclerosis Progression in Older Men With Low Testosterone Levels Completed NCT00287586 Phase 4 Testosterone Gel (Androgel);Placebo
38 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%
39 Natesto Effects on Testosterone, Luteinizing Hormone, Follicle Stimulating Hormone and Semen Parameters Completed NCT03203681 Phase 4 Natesto
40 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
41 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
42 Phase 4 Study of About the Effect of Testosterone Treatment on the Components of Metabolic Syndrome Completed NCT01160341 Phase 4 Testosteron
43 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
44 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;Testim
45 A Randomized, Double-blinded, Clinical, Placebo-controlled Trial on the Effects of Therapy With Letrozole and hUman Choriongonadotropin in Male Hypogonadism Induced by Illicit Use of Anabolic Androgenic Steroids on Plasma Reproductive Hormones, Fertility, Withdrawal Symptoms and Myocardial Function - The LUCAS Trial Recruiting NCT05205837 Phase 4 Letrozole 2.5mg, hCG;Placebo
46 Testosterone Therapy and Bone Quality in Men With Diabetes and Hypogonadism Recruiting NCT03887936 Phase 4 Testosterone gel 1.62%;Placebo
47 52 Week RCT to Investigate the Effect of Testosterone Undecanoate vs Placebo on Intrahepatic Fat Content in Obese/Overweight Men With T2DM/Prediabetes and Hypogonadism and Subsequent 108 Week Open Label Phase to Investigate Effects on Cardiometabolic Parameters Recruiting NCT03851627 Phase 4 Testosterone Undecanoate;Placebo
48 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
49 A Phase 4, Open-Label, Single-Arm Study to Evaluate the Effects of Vogelxo(R) on 24-hour Ambulatory Blood Pressure Monitoring in Hypogonadal Men Using Therapeutic Testosterone Replacement Therapy Recruiting NCT04558567 Phase 4 Vogelxo
50 Muscle Strength and -Mass After Bariatric Surgery - a Possible Effect of Testosterone Replacement Therapy? Randomized, Placebo-controlled and Double-blinded Study Recruiting NCT03721497 Phase 4 Testosterone Undecanoate

Search NIH Clinical Center for Hypogonadotropic Hypogonadism

Inferred drug relations via UMLS 71 / NDF-RT 50 :

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

Genetic tests related to Hypogonadotropic Hypogonadism:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 28
2 Klinefelter Syndrome 28

Anatomical Context for Hypogonadotropic Hypogonadism

Organs/tissues related to Hypogonadotropic Hypogonadism:

MalaCards : Pituitary, Testes, Breast, Hypothalamus, Bone, Prostate, Spinal Cord

Publications for Hypogonadotropic Hypogonadism

Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 6619)
# Title Authors PMID Year
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. 62 5
27512013 2017
Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive. 62 41
36112034 2022
FSH and bone: Comparison between males with central versus primary hypogonadism. 62 41
35992104 2022
In vitro propagation of XXY human Klinefelter spermatogonial stem cells: A step towards new fertility opportunities. 62 41
36246909 2022
Mutations of the KISS1 gene in disorders of puberty. 53 62
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. 53 62
20139426 2010
[Azoospermia factor and male infertility]. 53 62
20369704 2010
Genetic association between AZF region polymorphism and Klinefelter syndrome. 53 62
19909597 2009
Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. 53 62
19072570 2008
21-hydroxylase deficiency and klinefelter syndrome in an adult man: striking a balance between androgen excess and insufficiency. 53 62
18772490 2008
Role of hormones, genes, and environment in human cryptorchidism. 53 62
18436703 2008
Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. 53 62
17968468 2007
Establishment and clinical application of enzyme immunoassays for determination of luteinizing hormone releasing hormone and metastin. 53 62
17486693 2007
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. 53 62
17200176 2007
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 53 62
17164310 2007
Genetic insights into human isolated gonadotropin deficiency. 53 62
17624596 2007
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 53 62
16968799 2006
Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome. 53 62
16926256 2006
Treatment of mediastinal immature teratoma in a child with precocious puberty and Klinefelter's syndrome. 53 62
17062277 2006
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 53 62
16882753 2006
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome. 53 62
16906568 2006
Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. 53 62
16868131 2006
Transmission of male infertility and intracytoplasmic sperm injection (mini-review). 53 62
16909765 2006
Masculinizing genitoplasty in intersex patients. 53 62
16148681 2005
Rett syndrome: model of neurodevelopmental disorders. 53 62
16225824 2005
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. 53 62
15598687 2005
Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis. 53 62
16286771 2005
Genotyping of AR and PSA polymorphisms in a patient with Klinefelter syndrome, non-Hodgkin lymphoma, and adenocarcinoma of the prostate. 53 62
15350307 2004
Immunoexpression of androgen receptors and aromatase in testes of patient with Klinefelter's syndrome. 53 62
15704647 2004
Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter's syndrome. 53 62
11925377 2002
Efficacy and safety of recombinant human follicle-stimulating hormone in men with isolated hypogonadotropic hypogonadism. 53 62
11821082 2002
Rethinking the fate of males with mutations in the gene that causes Rett syndrome. 53 62
11738861 2001
Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis. 53 62
11473958 2001
[Detection of fetal cells in maternal blood: myth or reality?]. 53 62
11406933 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. 53 62
10202890 1999
Computer assisted sperm motility analysis at the moment of induced pregnancy during gonadotropin treatment for hypogonadotropic hypogonadism. 53 62
8282963 1993
Testosterone normalizes plasma vasopressin response to osmotic stimuli in men with hypogonadism. 53 62
7920892 1993
Both hyper- and hypogonadotropic hypogonadism occur transiently in acute illness: bio- and immunoactive gonadotropins. 53 62
1464665 1992
Immunohistochemical localization of inhibin-alpha in the testes of normal men and in men with testicular disorders. 53 62
2096111 1990
Klinefelter syndrome-Considerations in management during the SARS-CoV-2 pandemic. 62
34309060 2023
Preoperative testosterone and follicle stimulating hormone levels are important predictors for sperm retrieval by microdissection testicular sperm extraction in non-mosaic Klinefelter syndrome. 62
36100572 2022
X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization. 62
36073611 2022
Experiences of individuals receiving a sex chromosome multisomy diagnosis. 62
35986191 2022
Pulmonary Thromboendarterectomy in Klinefelter Syndrome. Literature Review. 62
34571108 2022
Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome). 62
35947806 2022
First Adolescent Romantic and Sexual Experiences in Individuals With Differences of Sex Development/Intersex Conditions. 62
36088232 2022
Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients. 62
36219240 2022
Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone. 62
35506821 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres. 62
36228316 2022
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review. 62
36138264 2022

Variations for Hypogonadotropic Hypogonadism

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism:

5 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.2818-2A>T SNV Association
1344593 GRCh37: 12:106890528-106890528
GRCh38: 12:106496750-106496750
2 POLR3B NM_018082.6(POLR3B):c.1199T>C (p.Phe400Ser) SNV Association
1344599 GRCh37: 12:106821072-106821072
GRCh38: 12:106427294-106427294
3 POLR3B NM_018082.6(POLR3B):c.2637dup (p.Leu880fs) DUP Association
1344603 GRCh37: 12:106857318-106857319
GRCh38: 12:106463540-106463541
4 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) SNV Association
31166 rs138249161 GRCh37: 12:106826199-106826199
GRCh38: 12:106432421-106432421
5 SEMA3F NM_004186.5(SEMA3F):c.2171C>T (p.Thr724Met) SNV Affects
982050 rs768027884 GRCh37: 3:50225361-50225361
GRCh38: 3:50187928-50187928
6 CHD7 NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) SNV Pathogenic
2022 rs121434338 GRCh37: 8:61735186-61735186
GRCh38: 8:60822627-60822627
7 TACR3 NM_001059.3(TACR3):c.370del (p.Leu124_Val125insTer) DEL Pathogenic
1691567 GRCh37: 4:104640463-104640463
GRCh38: 4:103719306-103719306
8 overlap with 823 genes GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 CN GAIN Pathogenic
1704345 GRCh37: X:61545-155226048
9 FGFR1 NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) SNV Pathogenic
16282 rs121909628 GRCh37: 8:38272410-38272410
GRCh38: 8:38414892-38414892
10 overlap with 9 genes GRCh37/hg19 Xp22.33(chrX:2696691-3666623)x1 CN LOSS Pathogenic
1708269 GRCh37: X:2696691-3666623
11 overlap with 34 genes GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1 CN LOSS Pathogenic
1708270 GRCh37: Y:2650140-9651417
12 GNRHR NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) SNV Likely Pathogenic
16024 rs104893837 GRCh37: 4:68606400-68606400
GRCh38: 4:67740682-67740682
13 SEMA3F NM_004186.5(SEMA3F):c.1954G>T (p.Ala652Ser) SNV Uncertain Significance
982049 GRCh37: 3:50225144-50225144
GRCh38: 3:50187711-50187711
14 SEMA3F NM_004186.5(SEMA3F):c.2095C>T (p.Arg699Trp) SNV Uncertain Significance
982048 rs777811058 GRCh37: 3:50225285-50225285
GRCh38: 3:50187852-50187852
15 WDR11 NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) SNV Uncertain Significance
68842 rs139007744 GRCh37: 10:122666300-122666300
GRCh38: 10:120906788-120906788
16 PLXNA3 NM_017514.5(PLXNA3):c.322C>T (p.Arg108Cys) SNV Uncertain Significance
982252 rs782774035 GRCh37: X:153688845-153688845
GRCh38: X:154460505-154460505
17 SEMA3F NM_004186.5(SEMA3F):c.2165C>T (p.Pro722Leu) SNV Uncertain Significance
982054 rs749838132 GRCh37: 3:50225355-50225355
GRCh38: 3:50187922-50187922
18 PLXNA3 NM_017514.5(PLXNA3):c.4075C>T (p.Arg1359Cys) SNV Uncertain Significance
982053 rs150035406 GRCh37: X:153696757-153696757
GRCh38: X:154468414-154468414
19 PLXNA3 NM_017514.5(PLXNA3):c.3256C>G (p.Leu1086Val) SNV Uncertain Significance
982052 GRCh37: X:153695629-153695629
GRCh38: X:154467286-154467286
20 PLXNA3 NM_017514.5(PLXNA3):c.1936T>C (p.Ser646Pro) SNV Uncertain Significance
982051 GRCh37: X:153693104-153693104
GRCh38: X:154464761-154464761
21 FGFR1 NM_023110.3(FGFR1):c.457C>G (p.Pro153Ala) SNV Uncertain Significance
1708299 GRCh37: 8:38285603-38285603
GRCh38: 8:38428085-38428085
22 ANOS1 NM_000216.4(ANOS1):c.318+11G>A SNV Uncertain Significance
1708370 GRCh37: X:8591638-8591638
GRCh38: X:8623597-8623597
23 KISS1R NM_032551.5(KISS1R):c.*9G>A SNV Uncertain Significance
1708371 GRCh37: 19:920757-920757
GRCh38: 19:920757-920757
24 HS6ST1 NM_004807.3(HS6ST1):c.1194G>A (p.Val398_Pro399=) SNV Uncertain Significance
1708403 GRCh37: 2:129025778-129025778
GRCh38: 2:128268204-128268204
25 SEMA3F NM_004186.5(SEMA3F):c.1354C>A (p.Pro452Thr) SNV Uncertain Significance
982046 rs768661142 GRCh37: 3:50222145-50222145
GRCh38: 3:50184712-50184712
26 SEMA3F NM_004186.5(SEMA3F):c.86C>T (p.Thr29Met) SNV Uncertain Significance
982047 rs141286158 GRCh37: 3:50197141-50197141
GRCh38: 3:50159708-50159708
27 SPRY4 NM_001127496.3(SPRY4):c.-47-4598C>G SNV Uncertain Significance
1332906 GRCh37: 5:141699318-141699318
GRCh38: 5:142319753-142319753
28 CCDC141 NM_173648.4(CCDC141):c.4312C>T (p.Pro1438Ser) SNV Uncertain Significance
1341698 GRCh37: 2:179701634-179701634
GRCh38: 2:178836907-178836907
29 CCDC141 NM_173648.4(CCDC141):c.538C>T (p.Arg180Trp) SNV Uncertain Significance
1341699 GRCh37: 2:179826199-179826199
GRCh38: 2:178961472-178961472
30 NHLH2 NM_005599.3(NHLH2):c.26C>T (p.Ala9Val) SNV Uncertain Significance
1326268 GRCh37: 1:116380968-116380968
GRCh38: 1:115838347-115838347
31 NHLH2 NM_005599.3(NHLH2):c.91G>A (p.Val31Met) SNV Uncertain Significance
1326269 GRCh37: 1:116380903-116380903
GRCh38: 1:115838282-115838282
32 NHLH2 NM_005599.3(NHLH2):c.25G>T (p.Ala9Ser) SNV Uncertain Significance
1326289 GRCh37: 1:116380969-116380969
GRCh38: 1:115838348-115838348
33 NHLH2 NM_005599.3(NHLH2):c.235C>T (p.Arg79Cys) SNV Uncertain Significance
1326288 GRCh37: 1:116380759-116380759
GRCh38: 1:115838138-115838138
34 PROK2 NM_001126128.2(PROK2):c.3G>A (p.Met1Ile) SNV Uncertain Significance
1691558 GRCh37: 3:71834201-71834201
GRCh38: 3:71785050-71785050
35 FGFR1 NM_023110.3(FGFR1):c.621+6TG[5] MICROSAT Uncertain Significance
1691563 GRCh37: 8:38285425-38285426
GRCh38: 8:38427907-38427908

Copy number variations for Hypogonadotropic Hypogonadism from CNVD:

6 (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 TTTY15 Klinefelter syndrome
23 266988 Y 18390253 18758303 Microdeletion XKRY Klinefelter syndrome

Expression for Hypogonadotropic Hypogonadism

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism.

Pathways for Hypogonadotropic Hypogonadism

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

(show all 13)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
4 12.57 FGFR1 FGF8 FGF17 DUSP6 ANOS1
Show member pathways
12.35 FGFR1 FGF8 FGF17 ANOS1
6 12.12 FGFR1 FGF8 FGF17 DUSP6
Show member pathways
Show member pathways
11.63 FGFR1 FGF8 FGF17
9 11.5 GNRH1 FGFR1 FGF8 FGF17
10 11.32 TACR3 KISS1 GNRH1
11 10.56 GNRHR GNRH1
13 9.96 TACR3 TAC3

GO Terms for Hypogonadotropic Hypogonadism

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGFR1 FGF8 FGF17
2 multicellular organism development GO:0007275 9.5 SPRY4 GNRH1 FGFR1
3 tachykinin receptor signaling pathway GO:0007217 9.46 TACR3 TAC3
4 chordate embryonic development GO:0043009 9.26 FGFR1 CHD7
5 neuropeptide signaling pathway GO:0007218 9.23 TAC3 PROKR2 PROK2 KISS1R

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

# Name GO ID Score Top Affiliating Genes
1 type 1 fibroblast growth factor receptor binding GO:0005105 9.26 FGF8 FGF17
2 type 2 fibroblast growth factor receptor binding GO:0005111 8.92 FGF8 FGF17

Sources for Hypogonadotropic Hypogonadism

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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