HH24
MCID: HYP647
MIFTS: 41

Hypogonadotropic Hypogonadism 24 Without Anosmia (HH24)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 24 Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 24 Without Anosmia:

Name: Hypogonadotropic Hypogonadism 24 Without Anosmia 57 12 72 29 6 15
Follicle-Stimulating Hormone Deficiency, Isolated 57 20 72 13 39 70
Isolated Follicle-Stimulating Hormone Deficiency 12 36 29 6
Isolated Fsh Deficiency 20 58
Hh24 57 72
Isolated Follicle-Stimulating Hormone Deficiency 20
Isolated Follicle Stimulating Hormone Deficiency 58
Isolated Follitropin Deficiency 70

Characteristics:

Orphanet epidemiological data:

58
isolated follicle stimulating hormone deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
some female patients can conceive after administration of gonadotropins


HPO:

31
hypogonadotropic hypogonadism 24 without anosmia:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0090088
OMIM® 57 229070
OMIM Phenotypic Series 57 PS147950
KEGG 36 H01253
ICD10 32 E23.6
MESH via Orphanet 45 C537070
ICD10 via Orphanet 33 E23.6
UMLS via Orphanet 71 C0342386 C1856716
Orphanet 58 ORPHA52901
MedGen 41 C1856716
UMLS 70 C0271581 C1856716

Summaries for Hypogonadotropic Hypogonadism 24 Without Anosmia

KEGG : 36 Isolated follicle-stimulating hormone deficiency (IFSHD) can be caused by mutations in the gene encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible.

MalaCards based summary : Hypogonadotropic Hypogonadism 24 Without Anosmia, also known as follicle-stimulating hormone deficiency, isolated, is related to amenorrhea and infertility. An important gene associated with Hypogonadotropic Hypogonadism 24 Without Anosmia is FSHB (Follicle Stimulating Hormone Subunit Beta), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and GnRH signaling pathway. Affiliated tissues include pituitary, breast and bone, and related phenotypes are male hypogonadism and female hypogonadism

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 24 without anosmia: A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility.

More information from OMIM: 229070 PS147950

Related Diseases for Hypogonadotropic Hypogonadism 24 Without Anosmia

Diseases in the Hypogonadotropic Hypogonadism 7 with or Without Anosmia family:

Hypogonadotropic Hypogonadism 2 with or Without Anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia
Hypogonadotropic Hypogonadism 24 Without Anosmia Hypogonadotropic Hypogonadism 3 with or Without Anosmia
Hypogonadotropic Hypogonadism 1 with or Without Anosmia Hypogonadotropic Hypogonadism 4 with or Without Anosmia
Hypogonadotropic Hypogonadism 5 with or Without Anosmia Hypogonadotropic Hypogonadism 6 with or Without Anosmia
Hypogonadotropic Hypogonadism 8 with or Without Anosmia Hypogonadotropic Hypogonadism 9 with or Without Anosmia
Hypogonadotropic Hypogonadism 10 with or Without Anosmia Hypogonadotropic Hypogonadism 11 with or Without Anosmia
Hypogonadotropic Hypogonadism 12 with or Without Anosmia Hypogonadotropic Hypogonadism 13 with or Without Anosmia
Hypogonadotropic Hypogonadism 14 with or Without Anosmia Hypogonadotropic Hypogonadism 15 with or Without Anosmia
Hypogonadotropic Hypogonadism 16 with or Without Anosmia Hypogonadotropic Hypogonadism 17 with or Without Anosmia
Hypogonadotropic Hypogonadism 18 with or Without Anosmia Hypogonadotropic Hypogonadism 19 with or Without Anosmia
Hypogonadotropic Hypogonadism 20 with or Without Anosmia Hypogonadotropic Hypogonadism 21 with or Without Anosmia
Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 24 Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 amenorrhea 30.1 INS FSHB
2 infertility 29.9 INS FSHB
3 hypogonadism 29.9 INS FSHB
4 anovulation 29.6 INS FSHB
5 premature menopause 29.5 INS FSHB
6 male infertility 10.4
7 hyperprolactinemia 10.1
8 hypothalamic disease 10.1
9 pituitary tumors 10.1
10 cryptorchidism, unilateral or bilateral 10.0
11 autosomal recessive disease 10.0
12 polycystic ovary syndrome 10.0
13 hyperandrogenism 10.0
14 azoospermia 10.0
15 hypogonadotropic hypogonadism 9.9 INS FSHB
16 ovarian hyperstimulation syndrome 9.8 INS FSHB
17 hypopituitarism 9.7 INS FSHB

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism 24 Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism 24 Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 24 Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male hypogonadism 58 31 obligate (100%) Obligate (100%) HP:0000026
2 female hypogonadism 58 31 obligate (100%) Obligate (100%) HP:0000134
3 gonadotropin deficiency 58 31 obligate (100%) Obligate (100%) HP:0008213
4 hypogonadotropic hypogonadism 31 obligate (100%) HP:0000044
5 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
6 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
7 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
8 sparse axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002215
9 sparse pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002225
10 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
11 delayed menarche 58 31 hallmark (90%) Very frequent (99-80%) HP:0012569
12 decreased serum testosterone level 31 hallmark (90%) HP:0040171
13 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
14 testicular atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000029
15 oligospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000798
16 decreased female libido 58 31 frequent (33%) Frequent (79-30%) HP:0030018
17 oligomenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000876
18 abnormal sperm morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012864
19 hyperplasia of the leydig cells 58 31 frequent (33%) Frequent (79-30%) HP:0010791
20 bilateral breast hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0012814
21 decreased muscle mass 31 occasional (7.5%) HP:0003199
22 delayed puberty 58 Very frequent (99-80%)
23 hypogonadotrophic hypogonadism 58 Obligate (100%)
24 anosmia 58 Excluded (0%)
25 infertility 31 HP:0000789
26 abnormality of metabolism/homeostasis 31 HP:0001939
27 hypogonadism 31 HP:0000135
28 low gonadotropins (secondary hypogonadism) 58 Very frequent (99-80%)
29 decreased testosterone in males 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
primordial follicles

Skeletal:
delayed bone age

Chest Breasts:
delayed or absent thelarche

Skin Nails Hair Hair:
scant or absent facial hair (in some patients)
scant axillary hair (in some patients)
scant pubic hair (in some patients)

Endocrine Features:
infertility
hypogonadotropic hypogonadism
low or undetectable fsh levels
normal to high lh levels
normal to low testosterone levels
more
Head And Neck Nose:
normal sense of smell

Genitourinary Internal Genitalia Male:
small testes
leydig cell hyperplasia
oligospermia/azoospermia
sparse small seminiferous tubules
peritubular fibrosis
more
Muscle Soft Tissue:
underdeveloped muscles (in some patients)

Clinical features from OMIM®:

229070 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 24 Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 24 Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 24 Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 24 Without Anosmia 29 FSHB
2 Isolated Follicle-Stimulating Hormone Deficiency 29

Anatomical Context for Hypogonadotropic Hypogonadism 24 Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

40
Pituitary, Breast, Bone, Testes

Publications for Hypogonadotropic Hypogonadism 24 Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

(show all 25)
# Title Authors PMID Year
1
FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. 57 6
12161499 2002
2
Follitropin (FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations. 57 6
9806482 1998
3
Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. 57 6
9624193 1998
4
Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. 6 57
9271483 1997
5
Isolated deficiency of follicle-stimulating hormone re-revisited. 57 6
9280841 1997
6
Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. 57 6
8220432 1993
7
Isolated deficiency of follicle-stimulating hormone. Clinical and laboratory features. 6 57
4344039 1972
8
Isolated follicle-stimulating hormone deficiency revisited. Ovulation and conception in presence of circulating antibody to follicle-stimulating hormone. 61 57
758600 1979
9
Novel FSH╬▓ mutation in a male patient with isolated FSH deficiency and infertility. 6
28392474 2017
10
The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. 6
25052309 2015
11
Combined effects of the variants FSHB -211G>T and FSHR 2039A>G on male reproductive parameters. 6
22791757 2012
12
Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci. 6
20488225 2010
13
Isolated FSH deficiency in a male. A case report. 57
725549 1978
14
Isolated deficiency of follicle-stimulating hormone: Further studies. 57
1092710 1975
15
Anterior pituitary--six glands and one. 57
4564314 1972
16
Eli Lilly lecture. The subunits of pituitary thyrotropin--their relationship to other glycoprotein hormones. 57
5002675 1971
17
Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient. 61
32367462 2020
18
Isolated Follicle-stimulating Hormone Deficiency Coincidentally Diagnosed by Hematospermia. 61
29434156 2018
19
Isolated follicle stimulated hormone deficiency in male: case report. 61
29335009 2018
20
Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency. 61
26625121 2016
21
Effect of follicle-stimulating hormone on ovarian androgen production in a woman with isolated follicle-stimulating hormone deficiency. 61
11041762 2000
22
Isolated follicle-stimulating hormone deficiency in men: successful long-term gonadotropin therapy. 61
6436064 1984
23
Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism. 61
6814256 1982
24
Clomiphene in treatment of male infertility due to isolated follicle-stimulating-hormone deficiency. 61
90239 1979
25
Isolated follicle-stimulating hormone deficiency in man. 61
407105 1977

Variations for Hypogonadotropic Hypogonadism 24 Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 24 Without Anosmia:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FSHB , ARL14EP-DT NM_000510.2(FSHB):c.-280G>T SNV association 139460 rs10835638 GRCh37: 11:30252352-30252352
GRCh38: 11:30230805-30230805
2 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.298T>C (p.Cys100Arg) SNV Pathogenic 189329 rs5030777 GRCh37: 11:30255255-30255255
GRCh38: 11:30233708-30233708
3 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.236_237del (p.Val79fs) Deletion Pathogenic 16240 rs5030646 GRCh37: 11:30255192-30255193
GRCh38: 11:30233645-30233646
4 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.205T>G (p.Cys69Gly) SNV Pathogenic 16241 rs5030776 GRCh37: 11:30255162-30255162
GRCh38: 11:30233615-30233615
5 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.282C>A (p.Tyr94Ter) SNV Pathogenic 16242 rs121909666 GRCh37: 11:30255239-30255239
GRCh38: 11:30233692-30233692
6 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.343C>T (p.Arg115Ter) SNV Likely pathogenic 375419 rs374623109 GRCh37: 11:30255300-30255300
GRCh38: 11:30233753-30233753
7 ARL14EP-DT , FSHB NM_001382289.1(FSHB):c.*610C>T SNV Uncertain significance 877745 GRCh37: 11:30255957-30255957
GRCh38: 11:30234410-30234410
8 ARL14EP-DT , FSHB NM_001382289.1(FSHB):c.*841C>A SNV Uncertain significance 878778 GRCh37: 11:30256188-30256188
GRCh38: 11:30234641-30234641
9 ARL14EP-DT , FSHB NM_001382289.1(FSHB):c.*1337G>A SNV Uncertain significance 878779 GRCh37: 11:30256684-30256684
GRCh38: 11:30235137-30235137
10 FSHB , ARL14EP-DT NC_000011.10:g.30235230T>C SNV Uncertain significance 878780 GRCh37: 11:30256777-30256777
GRCh38: 11:30235230-30235230
11 ARL14EP-DT , FSHB NM_001382289.1(FSHB):c.245C>T (p.Pro82Leu) SNV Uncertain significance 880520 GRCh37: 11:30255202-30255202
GRCh38: 11:30233655-30233655
12 ARL14EP-DT , FSHB NM_001382289.1(FSHB):c.312G>A (p.Lys104=) SNV Uncertain significance 880521 GRCh37: 11:30255269-30255269
GRCh38: 11:30233722-30233722
13 ARL14EP-DT , FSHB NM_001382289.1(FSHB):c.344G>A (p.Arg115Gln) SNV Uncertain significance 880522 GRCh37: 11:30255301-30255301
GRCh38: 11:30233754-30233754
14 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*663G>C SNV Uncertain significance 304284 rs779622190 GRCh37: 11:30256010-30256010
GRCh38: 11:30234463-30234463
15 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.-35T>C SNV Uncertain significance 304274 rs886048178 GRCh37: 11:30252597-30252597
GRCh38: 11:30231050-30231050
16 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.-65C>G SNV Uncertain significance 304273 rs755811230 GRCh37: 11:30252567-30252567
GRCh38: 11:30231020-30231020
17 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.59G>T (p.Ser20Ile) SNV Uncertain significance 304276 rs6170 GRCh37: 11:30253508-30253508
GRCh38: 11:30231961-30231961
18 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*212T>C SNV Uncertain significance 304278 rs879553055 GRCh37: 11:30255559-30255559
GRCh38: 11:30234012-30234012
19 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*303C>A SNV Uncertain significance 304279 rs555094841 GRCh37: 11:30255650-30255650
GRCh38: 11:30234103-30234103
20 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*551G>A SNV Uncertain significance 304282 rs886048179 GRCh37: 11:30255898-30255898
GRCh38: 11:30234351-30234351
21 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*872C>T SNV Uncertain significance 304285 rs552570330 GRCh37: 11:30256219-30256219
GRCh38: 11:30234672-30234672
22 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*1009G>A SNV Uncertain significance 304288 rs75464895 GRCh37: 11:30256356-30256356
GRCh38: 11:30234809-30234809
23 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.30C>G (p.Phe10Leu) SNV Uncertain significance 304275 rs763300762 GRCh37: 11:30253479-30253479
GRCh38: 11:30231932-30231932
24 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.327C>A (p.Ser109Arg) SNV Uncertain significance 304277 rs148454792 GRCh37: 11:30255284-30255284
GRCh38: 11:30233737-30233737
25 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*898T>C SNV Uncertain significance 304286 rs143137782 GRCh37: 11:30256245-30256245
GRCh38: 11:30234698-30234698
26 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*948T>G SNV Likely benign 304287 rs78946483 GRCh37: 11:30256295-30256295
GRCh38: 11:30234748-30234748
27 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*635A>G SNV Benign 304283 rs676349 GRCh37: 11:30255982-30255982
GRCh38: 11:30234435-30234435
28 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*476A>G SNV Benign 304280 rs506197 GRCh37: 11:30255823-30255823
GRCh38: 11:30234276-30234276
29 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.*520C>G SNV Benign 304281 rs506306 GRCh37: 11:30255867-30255867
GRCh38: 11:30234320-30234320
30 ARL14EP-DT , FSHB NM_000510.3(FSHB):c.228C>T (p.Tyr76=) SNV Benign 257061 rs6169 GRCh37: 11:30255185-30255185
GRCh38: 11:30233638-30233638

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 24 Without Anosmia:

72
# Symbol AA change Variation ID SNP ID
1 FSHB p.Cys69Gly VAR_033015 rs5030776

Expression for Hypogonadotropic Hypogonadism 24 Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 24 Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 24 Without Anosmia

Pathways related to Hypogonadotropic Hypogonadism 24 Without Anosmia according to KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 GnRH signaling pathway hsa04912

Pathways related to Hypogonadotropic Hypogonadism 24 Without Anosmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 INS FSHB
2 10.33 INS FSHB

GO Terms for Hypogonadotropic Hypogonadism 24 Without Anosmia

Biological processes related to Hypogonadotropic Hypogonadism 24 Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.16 INS FSHB
2 positive regulation of gene expression GO:0010628 8.96 INS FSHB
3 positive regulation of cell migration GO:0030335 8.62 INS FSHB

Molecular functions related to Hypogonadotropic Hypogonadism 24 Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 INS FSHB

Sources for Hypogonadotropic Hypogonadism 24 Without Anosmia

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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