MCID: CNG562
MIFTS: 34

Congenital Hypogonadotropic Hypogonadism

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

Aliases & Classifications for Congenital Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Congenital Hypogonadotropic Hypogonadism:

Name: Congenital Hypogonadotropic Hypogonadism 58

Characteristics:

Orphanet epidemiological data:

58
congenital hypogonadotropic hypogonadism
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E23.0
Orphanet 58 ORPHA174590

Summaries for Congenital Hypogonadotropic Hypogonadism

MalaCards based summary : Congenital Hypogonadotropic Hypogonadism is related to hypogonadotropic hypogonadism 7 with or without anosmia and normosmic congenital hypogonadotropic hypogonadism. An important gene associated with Congenital Hypogonadotropic Hypogonadism is DUSP6 (Dual Specificity Phosphatase 6), and among its related pathways/superpathways are MAPK signaling pathway and Negative regulation of FGFR3 signaling. The drugs Menotropins and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Congenital Hypogonadotropic Hypogonadism

Diseases in the Hypogonadotropic Hypogonadism family:

Rare Disorder with Hypogonadotropic Hypogonadism Congenital Hypogonadotropic Hypogonadism

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 31.5 GNRHR FGFR1 DUSP6 ANOS1
2 normosmic congenital hypogonadotropic hypogonadism 31.2 GNRHR FGFR1 FGF8 DUSP6 CHD7 ANOS1
3 hartsfield syndrome 30.3 FGFR1 FGF8
4 kallmann syndrome 30.1 GNRHR FGFR1 FGF8 DUSP6 CHD7 ANOS1
5 hypogonadotropic hypogonadism 23 without anosmia 29.5 GNRHR FGFR1 ANOS1
6 hypogonadotropic hypogonadism 29.0 GNRHR FGFR1 FGF8 DUSP6 CHD7 ANOS1
7 hypogonadism 29.0 GNRHR FGFR1 FGF8 DUSP6 CHD7 ANOS1
8 cryptorchidism, unilateral or bilateral 28.8 GNRHR FGFR1 FGF8 CHD7 ANOS1
9 charge syndrome 28.5 GNRHR FGFR1 FGF8 CHD7 ANOS1
10 coloboma of macula 28.0 GNRHR FGFR1 FGF8 CHD7 ANOS1
11 isolated congenital hypogonadotropic hypogonadism 12.6
12 rare female infertility due to a congenital hypogonadotropic hypogonadism 12.4
13 aromatase deficiency 11.3
14 infertility 10.5
15 isolated gonadotropin-releasing hormone deficiency 10.5
16 hypogonadotropic hypogonadism 2 with or without anosmia 10.4
17 hypogonadotropic hypogonadism 1 with or without anosmia 10.2
18 hypogonadotropic hypogonadism 8 with or without anosmia 10.2
19 split hand-foot malformation 10.2
20 amenorrhea 10.2
21 cleft lip 10.2
22 cleft lip/palate 10.2
23 neurofibromatosis, type ii 10.1
24 prader-willi syndrome 10.1
25 achalasia-addisonianism-alacrima syndrome 10.1
26 hemochromatosis, type 1 10.1
27 hypogonadism, male 10.1
28 focal dermal hypoplasia 10.1
29 hemochromatosis, type 2a 10.1
30 branchiootic syndrome 1 10.1
31 hypogonadotropic hypogonadism 15 with or without anosmia 10.1
32 hypogonadotropic hypogonadism 17 with or without anosmia 10.1
33 hypogonadotropic hypogonadism 18 with or without anosmia 10.1
34 hypogonadotropic hypogonadism 19 with or without anosmia 10.1
35 hypogonadotropic hypogonadism 20 with or without anosmia 10.1
36 hypogonadotropic hypogonadism 21 with or without anosmia 10.1
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
38 hypogonadotropic hypogonadism 25 with anosmia 10.1
39 hemochromatosis type 2 10.1
40 hypospadias 10.1
41 infant gynecomastia 10.1
42 gynecomastia 10.1
43 ichthyosis 10.1
44 hydrocele 10.1
45 hypoglycemia 10.1
46 growth hormone deficiency 10.1
47 pituitary stalk interruption syndrome 10.1
48 pituitary tumors 10.1
49 lobar holoprosencephaly 10.0 FGFR1 FGF8
50 microform holoprosencephaly 10.0 FGFR1 FGF8

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



Diseases related to Congenital Hypogonadotropic Hypogonadism

Symptoms & Phenotypes for Congenital Hypogonadotropic Hypogonadism

GenomeRNAi Phenotypes related to Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.72 ANOS1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 FGFR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.72 FGF8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.72 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.72 ANOS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 FGFR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.72 ANOS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.72 FGF8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.72 ANOS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.72 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.72 FGF8
14 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.72 FGFR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.72 FGF8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 ANOS1 FGFR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.72 FGF8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 FGFR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 FGFR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 FGF8
21 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.72 ANOS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.72 ANOS1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.72 FGFR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 FGF8

MGI Mouse Phenotypes related to Congenital Hypogonadotropic Hypogonadism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 CHD7 DUSP6 FGF8 FGFR1
2 digestive/alimentary MP:0005381 9.46 CHD7 FGF8 FGFR1 GNRHR
3 hearing/vestibular/ear MP:0005377 9.26 CHD7 DUSP6 FGF8 FGFR1
4 muscle MP:0005369 8.92 CHD7 DUSP6 FGF8 FGFR1

Drugs & Therapeutics for Congenital Hypogonadotropic Hypogonadism

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3
Testosterone enanthate Approved Phase 4 315-37-7 9416
4
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
5
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
7
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
8 Follicle Stimulating Hormone Phase 4
9 Chorionic Gonadotropin Phase 4
10 Hormones Phase 4
11 Insulin, Globin Zinc Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Testosterone 17 beta-cypionate Phase 4
14 Hormone Antagonists Phase 4
15 insulin Phase 4
16 Androgens Phase 4
17 Anabolic Agents Phase 4
18 Vitamins Phase 4
19 Mitogens Phase 4
20 Calciferol Phase 4

Interventional clinical trials:


# 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 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
3 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
4 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
5 Intra-Testicular Transplantation of Purified Autologous Clusters of Differentiation (CD) 34+,133+, and Mesenchymal Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
6 Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH) Completed NCT01914172

Search NIH Clinical Center for Congenital Hypogonadotropic Hypogonadism

Genetic Tests for Congenital Hypogonadotropic Hypogonadism

Anatomical Context for Congenital Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Congenital Hypogonadotropic Hypogonadism:

40
Bone, Pituitary, Endothelial, Testes, Brain, Testis, Olfactory Bulb

Publications for Congenital Hypogonadotropic Hypogonadism

Articles related to Congenital Hypogonadotropic Hypogonadism:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Psychosexual effects resulting from delayed, incomplete, or absent puberty. 61
32524038 2020
2
Distinguishing between hidden testes and anorchia: the role of endocrine evaluation in infancy and childhood. 61
32422605 2020
3
Nectin-like molecule 2, a necessary sexual maturation regulator, participates in congenital hypogonadotropic hypogonadism. 61
32535046 2020
4
Genotypic and phenotypic spectra of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism. 61
32520725 2020
5
Pubertal Delay. The challenge of a timely differential diagnosis between Congenital Hypogonadotropic Hypogonadism (CHH) and Constitutional Delay of Growth and Puberty (CDGP): a narrative review. 61
32418410 2020
6
Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing. 61
32400067 2020
7
Knocking-down of the Prokineticin receptor 2 affects reveals its complex role in the regulation of the hypothalamus-pituitary-gonadal axis in the zebrafish model. 61
32376893 2020
8
Correlations Among Genotype and Outcome in Chinese Male Patients With Congenital Hypogonadotropic Hypogonadism Under HCG Treatment. 61
32171629 2020
9
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice. 61
32222824 2020
10
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease. 61
32200437 2020
11
Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells. 61
31996360 2020
12
Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a PTCH1 mutation reveals a new candidate gene for Kallmann syndrome. 61
32074614 2020
13
Congenital hypogonadotropic hypogonadism/Kallmann syndrome is associated with statural gain in both men and women: a monocentric study. 61
31770102 2020
14
Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration? 61
32508745 2020
15
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes. 61
31996231 2020
16
Efficacy of follitropin-alpha versus human menopausal gonadotropin for male patients with congenital hypogonadotropic hypogonadism. 61
31905120 2020
17
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism. 61
31883645 2020
18
Identification of ROBO1/2 and SCEL as candidate genes in Kallmann syndrome with emerging bioinformatic analysis. 61
31325086 2020
19
A single-nucleotide polymorphism induced alternative splicing in Tacr3 involves in hypoxic-ischemic brain damage. 61
31722250 2020
20
Addressing gaps in care of people with conditions affecting sex development and maturation. 61
31406344 2019
21
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism. 61
31200363 2019
22
Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients. 61
31464203 2019
23
Replacement of Male Mini-Puberty. 61
31240270 2019
24
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism. 61
31291191 2019
25
Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates. 61
31522908 2019
26
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism. 61
31073722 2019
27
Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys. 61
31067328 2019
28
Testosterone replacement in congenital hypogonadotropic hypogonadism maintains bone density but has only limited osteoanabolic effects. 61
30851011 2019
29
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients. 61
30999277 2019
30
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective. 61
30550360 2019
31
Clinical Management of Congenital Hypogonadotropic Hypogonadism. 61
30698671 2019
32
Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility. 61
30381580 2019
33
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. 61
30733481 2019
34
Glu2.53(90) of the GnRH receptor is part of the conserved G protein-coupled receptor structure and does not form a salt-bridge with Lys3.32(121). 61
30476558 2019
35
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. 61
30575316 2019
36
The Genetic Basis of Delayed Puberty. 61
31293522 2019
37
The Pulsatile Gonadorelin Pump Induces Earlier Spermatogenesis Than Cyclical Gonadotropin Therapy in Congenital Hypogonadotropic Hypogonadism Men. 61
30569789 2019
38
Gonadotropin-Induced Spermatogenesis in CHH Patients with Cryptorchidism. 61
31929795 2019
39
Psychological Aspects of Congenital Hypogonadotropic Hypogonadism. 61
31333578 2019
40
Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family. 61
30947225 2019
41
Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism. 61
30519672 2018
42
Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans. 61
30124894 2018
43
Assisted reproductive techniques with congenital hypogonadotropic hypogonadism patients: a systematic review and meta-analysis. 61
30453944 2018
44
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. 61
29144511 2018
45
Predictive factors for pituitary response to pulsatile GnRH therapy in patients with congenital hypogonadotropic hypogonadism. 61
29516878 2018
46
[Diagnosis and management of adult-onset idiopathic hypogonadotropic hypogonadism]. 61
29886652 2018
47
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. 61
29419413 2018
48
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. 61
29330225 2018
49
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism. 61
29146774 2018
50
Health-related physical fitness and quality of life in men with congenital hypogonadotropic hypogonadism. 61
29430665 2018

Variations for Congenital Hypogonadotropic Hypogonadism

Expression for Congenital Hypogonadotropic Hypogonadism

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

Pathways for Congenital Hypogonadotropic Hypogonadism

GO Terms for Congenital Hypogonadotropic Hypogonadism

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.61 FGFR1 FGF8 DUSP6
2 lung development GO:0030324 9.51 FGFR1 FGF8
3 heart morphogenesis GO:0003007 9.49 FGF8 CHD7
4 positive regulation of cell differentiation GO:0045597 9.48 FGFR1 FGF8
5 blood vessel remodeling GO:0001974 9.46 FGF8 CHD7
6 embryonic hindlimb morphogenesis GO:0035116 9.4 FGF8 CHD7
7 aorta morphogenesis GO:0035909 9.37 FGF8 CHD7
8 generation of neurons GO:0048699 9.32 FGFR1 FGF8
9 branching involved in salivary gland morphogenesis GO:0060445 9.26 FGFR1 FGF8
10 organ induction GO:0001759 9.16 FGFR1 FGF8
11 fibroblast growth factor receptor signaling pathway GO:0008543 9.13 FGFR1 FGF8 ANOS1
12 inner ear morphogenesis GO:0042472 8.8 FGFR1 FGF8 CHD7

Sources for Congenital Hypogonadotropic Hypogonadism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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