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MCID: HYP730
MIFTS: 53

Hypogonadotropic Hypogonadism

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations 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 20 43 42 17
Klinefelter Syndrome 12 20 43 44 15 71
Xxy Trisomy 12 20 43 71
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 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 44 D007713
NCIt 50 C34752
SNOMED-CT 67 405770005
UMLS 71 C0022735 C0271623 C2930823
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Summaries for Hypogonadotropic Hypogonadism

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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 Zinc and Menotropins 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 : 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:

Congenital Hypogonadotropic Hypogonadism

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

(show top 50) (show all 857)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 1 with or without anosmia 33.4 FGFR1 ANOS1
2 hypogonadotropic hypogonadism 23 without anosmia 33.1 PROKR2 GNRHR GNRH1 ANOS1
3 hypogonadotropic hypogonadism 7 with or without anosmia 33.1 SPRY4 PROKR2 GNRHR GNRH1 FGFR1 FGF17
4 adrenal hypoplasia, congenital 33.0 NSMF NR0B1 GNRHR GNRH1
5 congenital hypogonadotropic hypogonadism 32.4 GNRHR FGFR1 FGF8 DUSP6 CHD7 ANOS1
6 hartsfield syndrome 32.2 FGFR1 FGF8
7 kallmann syndrome 31.8 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
8 amenorrhea 31.6 GNRHR GNRH1 FSHB
9 charge syndrome 31.5 TACR3 TAC3 PROKR2 PROK2 NSMF KISS1R
10 normosmic congenital hypogonadotropic hypogonadism 31.4 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
11 hypopituitarism 31.2 PROKR2 PROK2 GNRH1 FSHB
12 hypogonadism 31.1 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
13 precocious puberty 31.0 KISS1R KISS1 GNRH1
14 coloboma of macula 30.8 TACR3 PROKR2 PROK2 GNRHR FGFR1 FGF8
15 cryptorchidism, unilateral or bilateral 30.7 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
16 pituitary stalk interruption syndrome 30.6 PROKR2 NSMF KISS1R CHD7
17 anovulation 30.6 KISS1 GNRH1 FSHB
18 choanal atresia, posterior 30.5 TACR3 PROKR2 PROK2 NSMF FGFR1 FGF8
19 central precocious puberty 30.5 KISS1R KISS1 GNRH1
20 disorder of sexual development 30.3 PROKR2 NR0B1 KISS1 GNRHR GNRH1 ANOS1
21 idiopathic central precocious puberty 30.2 TACR3 TAC3 PROKR2 KISS1R KISS1
22 premature menopause 30.1 NR0B1 KISS1R KISS1 GNRHR GNRH1 FSHB
23 septooptic dysplasia 30.0 PROKR2 PROK2 NSMF GNRHR GNRH1 FGFR1
24 renal hypodysplasia/aplasia 1 30.0 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
25 disease of mental health 29.5 XIST TACR3 TAC3 KISS1 GNRH1 FGFR1
26 sensorineural hearing loss 29.4 TACR3 TAC3 PROKR2 PROK2 NSMF IL17RD
27 hypogonadotropic hypogonadism 21 with or without anosmia 11.9
28 hypogonadotropic hypogonadism 5 with or without anosmia 11.9
29 hypogonadotropic hypogonadism 10 with or without anosmia 11.9
30 hypogonadotropic hypogonadism 15 with or without anosmia 11.9
31 hypogonadotropic hypogonadism 8 with or without anosmia 11.8
32 hypogonadotropic hypogonadism 12 with or without anosmia 11.8
33 hypogonadotropic hypogonadism 14 with or without anosmia 11.8
34 hypogonadotropic hypogonadism 20 with or without anosmia 11.8
35 hypogonadotropic hypogonadism 4 with or without anosmia 11.8
36 hypogonadotropic hypogonadism 6 with or without anosmia 11.8
37 hypogonadotropic hypogonadism 11 with or without anosmia 11.8
38 hypogonadotropic hypogonadism 13 with or without anosmia 11.8
39 hypogonadotropic hypogonadism 16 with or without anosmia 11.8
40 hypogonadotropic hypogonadism 2 with or without anosmia 11.8
41 hypogonadotropic hypogonadism 9 with or without anosmia 11.8
42 hypogonadotropic hypogonadism 17 with or without anosmia 11.8
43 hypogonadotropic hypogonadism 19 with or without anosmia 11.8
44 boucher-neuhauser syndrome 11.8
45 hypogonadotropic hypogonadism 3 with or without anosmia 11.8
46 hypogonadotropic hypogonadism 22 with or without anosmia 11.8
47 hypogonadotropic hypogonadism 18 with or without anosmia 11.8
48 gordon holmes syndrome 11.8
49 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.8
50 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.8

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:

46
# 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
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 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
3
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
7
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
8 Mitogens Phase 4
9 Vitamins Phase 4
10 Calciferol Phase 4
11 Anabolic Agents Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Estrogens Phase 4
14 Estrogen Antagonists Phase 4
15 Estrogen Receptor Antagonists Phase 4
16 Aromatase Inhibitors Phase 4
17 Hormones Phase 4
18 Hormone Antagonists Phase 4
19 Chorionic Gonadotropin Phase 4
20 Estradiol 3-benzoate Phase 4
21 Estradiol 17 beta-cypionate Phase 4
22 Follicle Stimulating Hormone Phase 4
23
Sodium citrate Approved, Investigational Phase 3 68-04-2
24
Ganirelix Approved Phase 3 124904-93-4, 123246-29-7 25081094
25
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
26
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
27
Enclomiphene Investigational Phase 3 15690-57-0
28 Prolactin Release-Inhibiting Factors Phase 3
29 Estrogen Receptor Modulators Phase 3
30 Clomiphene Phase 3
31 Zuclomiphene Phase 3
32 Cathartics Phase 2, Phase 3
33 Gastrointestinal Agents Phase 2, Phase 3
34 Castor Phase 2, Phase 3
35 Laxatives Phase 2, Phase 3
36 Citrate Phase 3
37 Contraceptive Agents Phase 3
38 Triptorelin Pamoate Phase 3
39
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
40
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
41
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
42
Testosterone enanthate Approved Phase 2 315-37-7 9416
43
Methyltestosterone Approved Phase 2 58-18-4 6010
44
Testosterone Approved, Investigational Phase 2 58-22-0 6013
45
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
46
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
47 Hypoglycemic Agents Phase 1, Phase 2
48 Nutrients Phase 2
49 Keratolytic Agents Phase 2
50 Micronutrients Phase 2

Interventional clinical trials:

(show top 50) (show all 84)
# 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 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 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
10 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
11 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
12 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)
13 Androgen Treatment in Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
14 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)
15 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 (MK-8962-043) Completed NCT03019575 Phase 3 Corifollitropin alfa;hCG
16 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
17 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
18 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)
19 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
20 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
21 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
22 A Phase III, Multi-center, Open-label, Randomized Study to Assess the Efficacy and Safety of Org 37462 Treatment in Chinese Women Undergoing Controlled Ovarian Stimulation for IVF or ICSI, Using a Long Protocol of Triptorelin as a Reference Treatment. Completed NCT00725491 Phase 3 ganirelix;triptorelin
23 Pulsatile GnRH in Anovulatory Infertility Unknown status NCT00383656 Phase 2 GnRH
24 Effect of Intranasal Insulin on LH Concentrations in Man Completed NCT02154477 Phase 1, Phase 2 intranasal insulin;placebo (intranasal saline)
25 Androgen Effect on Motor/Cognitive Outcome in Klinefelter Syndrome Completed NCT00348946 Phase 2 androgen oxandrolone
26 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
27 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
28 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
29 Recovery of Gonadal Function by Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Completed NCT00697814 Phase 2 Clomiphene citrate
30 A 6 Month, Double-blind Safety Extension Study of MBGS205 Completed NCT02908074 Phase 2 BGS649
31 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
32 Hypogonadotropic Hypogonadism in Obese Young Males Recruiting NCT03245827 Phase 2 Clomiphene;Placebo
33 Prolonged Pulsatile Kisspeptin Administration in Hypogonadotropic Hypogonadism Recruiting NCT04648969 Phase 2 kisspeptin 112-121;GnRH
34 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®
35 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
36 Pharmacodynamics and Safety of Human Recombinant Luteinising Hormone in Hypogonadotropic Hypogonadal Men Not yet recruiting NCT04189133 Phase 2 Lutropin alfa;Human chorionic gonadotropin
37 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
38 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
39 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
40 Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling Recruiting NCT01438073 Phase 1 kisspeptin 112-121;GnRH
41 Neuropeptides in Human Reproduction Recruiting NCT01952782 Phase 1 Kisspeptin 112-121;Naloxone;Gonadotropin Releasing Hormone (GnRH)
42 Kisspeptin Administration in the Adult Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
43 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
44 Efficacy of Pulsatile GnRH Therapy on Male Patients With Pituitary Stalk Interruption Syndrome Unknown status NCT02705014 Gonadotropin-releasing Hormone
45 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
46 Follow-up of Serum Androgen Profile After Bariatric Surgery in Men With Obesity Related Hypogonadotropic Hypogonadism Completed NCT00624624
47 Fertility Preservation in Cases of Spermatogenesis Failure : Prospective Study for Klinefelter Syndrome With Non-mosaic Karyotype (47, XXY, Homogeneous) Completed NCT01918280
48 Klinefelter Syndrome: Are we Missing the Optimal Time for Fertility Preservation? Completed NCT01817296
49 Subcapsular Orchiectomy in Men With Klinefelter Syndrome Completed NCT01750632
50 The Haemostatic Balance and Neurocognitive Phenotype in Klinefelter Syndrome - The Effect of Testosterone Treatment Completed NCT02526628

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, Breast, Testes, Testis, Brain, Bone, Thyroid
Sources

Publications for Hypogonadotropic Hypogonadism

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Articles related to Hypogonadotropic Hypogonadism:

(show top 50) (show all 4034)
# Title Authors PMID Year
1
Expression profile of microRNAs in the testes of patients with Klinefelter syndrome. 42
32651451 2020
2
48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report. 42
32389125 2020
3
Respiratory distress in a patient with Klinefelter syndrome: a suspicion of COVID-19 hiding severe pulmonary embolism. 42
33343792 2020
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. 54 61
20139426 2010
6
Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. 54 61
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. 54 61
17164310 2007
10
Genetic insights into human isolated gonadotropin deficiency. 54 61
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. 54 61
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. 54 61
16868131 2006
15
Transmission of male infertility and intracytoplasmic sperm injection (mini-review). 54 61
16909765 2006
16
Masculinizing genitoplasty in intersex patients. 61 54
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. 54 61
11821082 2002
22
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
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. 61 54
10202890 1999
24
Computer assisted sperm motility analysis at the moment of induced pregnancy during gonadotropin treatment for hypogonadotropic hypogonadism. 54 61
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
Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature. 61
32537678 2021
29
Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients. 61
33548149 2021
30
A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene. 61
33592857 2021
31
Pulmonary embolism in a patient with Klinefelter's syndrome. 61
33528124 2021
32
Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism. 61
33381670 2021
33
NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism. 61
33531459 2021
34
The Emerging Key Role of Klotho in the Hypothalamus-Pituitary-Ovarian Axis. 61
32783104 2021
35
The Role of Inflammatory Hematological Markers in Predicting IVF Success. 61
32759097 2021
36
Providing Care for Transgender Persons With Kidney Disease: A Narrative Review. 61
33552529 2021
37
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism. 61
32389901 2021
38
Neurotrophic keratitis in autoimmune polyglandular syndrome type 1: a case report. 61
33413189 2021
39
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. 61
33468338 2021
40
Cell adhesion molecule L1 like plays a role in the pathogenesis of idiopathic hypogonadotropic hypogonadism. 61
33453020 2021
41
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism. 61
33495532 2021
42
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. 61
33442024 2021
43
Serum insulin-like factor 3 quantification by LC-MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndrome. 61
33483888 2021
44
Induction of spermatogenesis in men with hypogonadotropic hypogonadism. 61
33432424 2021
45
The use of D-chiro-Inositol in clinical practice. 61
33506934 2021
46
The role of gonadotropins in testicular and adrenal androgen biosynthesis pathways-Insights from males with congenital hypogonadotropic hypogonadism on hCG/rFSH and on testosterone replacement. 61
32871622 2021
47
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice. 61
32222824 2021
48
New gene targets in the study of hypogonadotropic hypogonadism. 61
33189862 2021
49
Serum inhibin B for differentiating between congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty: a systematic review and meta-analysis. 61
33464540 2021
50
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. 61
33005949 2021
Sources

Variations for Hypogonadotropic Hypogonadism

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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
Sources

Expression for Hypogonadotropic Hypogonadism

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

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 FGFR1 signaling 65
Show member pathways
 12.28 FGFR1 FGF8 FGF17 ANOS1
4
Calcium signaling pathway 36
12.05 TACR3 FGFR1 FGF8 FGF17
5
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 11.99 GNRH1 FGFR1 FGF8 FGF17
6
Signaling by FGFR2 65
Show member pathways
 11.85 FGFR1 FGF8 FGF17 ANOS1
7
FGFR1 mutant receptor activation 65
Show member pathways
 11.53 FGFR1 FGF8 FGF17
8
G-protein signaling_RhoA regulation pathway 23
11.42 GNRH1 FGFR1 FGF8 FGF17
9
GnRH secretion 36
11.3 KISS1R KISS1 GNRH1
10
Hormone ligand-binding receptors 65
10.25 GNRHR GNRH1 FSHB
Sources

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 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

Sources for Hypogonadotropic Hypogonadism

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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