HH24
MCID: HYP647
MIFTS: 36

Hypogonadotropic Hypogonadism 24 Without Anosmia (HH24)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 24 Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 24 Without Anosmia:

Name: Hypogonadotropic Hypogonadism 24 Without Anosmia 56 12 73 29 6 15
Follicle-Stimulating Hormone Deficiency, Isolated 56 52 73 13 39 71
Isolated Follicle-Stimulating Hormone Deficiency 12 36 29 6
Isolated Fsh Deficiency 52 58
Hh24 56 73
Isolated Follicle-Stimulating Hormone Deficiency 52
Isolated Follicle Stimulating Hormone Deficiency 58
Isolated Follitropin Deficiency 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 229070
OMIM Phenotypic Series 56 PS147950
KEGG 36 H01253
ICD10 32 E23.6
MESH via Orphanet 44 C537070
ICD10 via Orphanet 33 E23.6
UMLS via Orphanet 72 C0342386 C1856716
Orphanet 58 ORPHA52901
MedGen 41 C1856716
UMLS 71 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 male infertility 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 : 73 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 13)
# Related Disease Score Top Affiliating Genes
1 male infertility 10.3
2 infertility 10.3
3 amenorrhea 10.2
4 hyperprolactinemia 10.1
5 azoospermia 10.1
6 hypothalamic disease 10.1
7 pituitary tumors 10.1
8 hypogonadism 10.1
9 cryptorchidism, unilateral or bilateral 9.9
10 autosomal recessive disease 9.9
11 polycystic ovary syndrome 9.9
12 hyperandrogenism 9.9
13 anovulation 9.9

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 abnormality of metabolism/homeostasis 31 HP:0001939
24 hypogonadotrophic hypogonadism 58 Obligate (100%)
25 anosmia 58 Excluded (0%)
26 infertility 31 HP:0000789
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:

56
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

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 22)
# 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. 6 56
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. 56 6
9806482 1998
3
Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. 6 56
9624193 1998
4
Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. 6 56
9271483 1997
5
Isolated deficiency of follicle-stimulating hormone re-revisited. 56 6
9280841 1997
6
Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. 6 56
8220432 1993
7
Isolated deficiency of follicle-stimulating hormone. Clinical and laboratory features. 6 56
4344039 1972
8
Isolated follicle-stimulating hormone deficiency revisited. Ovulation and conception in presence of circulating antibody to follicle-stimulating hormone. 61 56
758600 1979
9
Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci. 6
20488225 2010
10
Isolated FSH deficiency in a male. A case report. 56
725549 1978
11
Isolated deficiency of follicle-stimulating hormone: Further studies. 56
1092710 1975
12
Anterior pituitary--six glands and one. 56
4564314 1972
13
Eli Lilly lecture. The subunits of pituitary thyrotropin--their relationship to other glycoprotein hormones. 56
5002675 1971
14
Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient. 61
32367462 2020
15
Isolated Follicle-stimulating Hormone Deficiency Coincidentally Diagnosed by Hematospermia. 61
29434156 2018
16
Isolated follicle stimulated hormone deficiency in male: case report. 61
29335009 2018
17
Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency. 61
26625121 2016
18
Effect of follicle-stimulating hormone on ovarian androgen production in a woman with isolated follicle-stimulating hormone deficiency. 61
11041762 2000
19
Isolated follicle-stimulating hormone deficiency in men: successful long-term gonadotropin therapy. 61
6436064 1984
20
Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism. 61
6814256 1982
21
Clomiphene in treatment of male infertility due to isolated follicle-stimulating-hormone deficiency. 61
90239 1979
22
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 GRCh37 Pos GRCh38 Pos
1 FSHB NM_000510.2(FSHB):c.-280G>TSNV association 139460 rs10835638 11:30252352-30252352 11:30230805-30230805
2 FSHB NM_000510.3(FSHB):c.298T>C (p.Cys100Arg)SNV Pathogenic 189329 rs5030777 11:30255255-30255255 11:30233708-30233708
3 FSHB NM_000510.3(FSHB):c.205T>G (p.Cys69Gly)SNV Pathogenic 16241 rs5030776 11:30255162-30255162 11:30233615-30233615
4 FSHB NM_000510.3(FSHB):c.282C>A (p.Tyr94Ter)SNV Pathogenic 16242 rs121909666 11:30255239-30255239 11:30233692-30233692
5 FSHB NM_000510.3(FSHB):c.236_237del (p.Val79fs)deletion Pathogenic/Likely pathogenic 16240 rs5030646 11:30255192-30255193 11:30233645-30233646
6 FSHB NM_000510.3(FSHB):c.343C>T (p.Arg115Ter)SNV Likely pathogenic 375419 rs374623109 11:30255300-30255300 11:30233753-30233753
7 FSHB NM_000510.3(FSHB):c.59G>T (p.Ser20Ile)SNV Conflicting interpretations of pathogenicity 304276 rs6170 11:30253508-30253508 11:30231961-30231961
8 FSHB NM_000510.3(FSHB):c.-65C>GSNV Uncertain significance 304273 rs755811230 11:30252567-30252567 11:30231020-30231020
9 FSHB NM_000510.3(FSHB):c.-35T>CSNV Uncertain significance 304274 rs886048178 11:30252597-30252597 11:30231050-30231050
10 FSHB NM_000510.3(FSHB):c.*1009G>ASNV Uncertain significance 304288 rs75464895 11:30256356-30256356 11:30234809-30234809
11 FSHB NM_000510.3(FSHB):c.*663G>CSNV Uncertain significance 304284 rs779622190 11:30256010-30256010 11:30234463-30234463
12 FSHB NC_000011.10:g.30233655C>TSNV Uncertain significance 880520 11:30255202-30255202 11:30233655-30233655
13 FSHB NC_000011.10:g.30233722G>ASNV Uncertain significance 880521 11:30255269-30255269 11:30233722-30233722
14 FSHB NC_000011.10:g.30233754G>ASNV Uncertain significance 880522 11:30255301-30255301 11:30233754-30233754
15 FSHB NC_000011.10:g.30234410C>TSNV Uncertain significance 877745 11:30255957-30255957 11:30234410-30234410
16 FSHB NC_000011.10:g.30234641C>ASNV Uncertain significance 878778 11:30256188-30256188 11:30234641-30234641
17 FSHB NC_000011.10:g.30235137G>ASNV Uncertain significance 878779 11:30256684-30256684 11:30235137-30235137
18 FSHB NC_000011.10:g.30235230T>CSNV Uncertain significance 878780 11:30256777-30256777 11:30235230-30235230
19 FSHB NM_000510.3(FSHB):c.*551G>ASNV Uncertain significance 304282 rs886048179 11:30255898-30255898 11:30234351-30234351
20 FSHB NM_000510.3(FSHB):c.30C>G (p.Phe10Leu)SNV Uncertain significance 304275 rs763300762 11:30253479-30253479 11:30231932-30231932
21 FSHB NM_000510.3(FSHB):c.327C>A (p.Ser109Arg)SNV Uncertain significance 304277 rs148454792 11:30255284-30255284 11:30233737-30233737
22 FSHB NM_000510.3(FSHB):c.*212T>CSNV Uncertain significance 304278 rs879553055 11:30255559-30255559 11:30234012-30234012
23 FSHB NM_000510.3(FSHB):c.*303C>ASNV Uncertain significance 304279 rs555094841 11:30255650-30255650 11:30234103-30234103
24 FSHB NM_000510.3(FSHB):c.*872C>TSNV Uncertain significance 304285 rs552570330 11:30256219-30256219 11:30234672-30234672
25 FSHB NM_000510.3(FSHB):c.*898T>CSNV Uncertain significance 304286 rs143137782 11:30256245-30256245 11:30234698-30234698
26 FSHB NM_000510.3(FSHB):c.*948T>GSNV Likely benign 304287 rs78946483 11:30256295-30256295 11:30234748-30234748
27 FSHB NM_000510.3(FSHB):c.228C>T (p.Tyr76=)SNV Benign 257061 rs6169 11:30255185-30255185 11:30233638-30233638
28 FSHB NM_000510.3(FSHB):c.*476A>GSNV Benign 304280 rs506197 11:30255823-30255823 11:30234276-30234276
29 FSHB NM_000510.3(FSHB):c.*635A>GSNV Benign 304283 rs676349 11:30255982-30255982 11:30234435-30234435
30 FSHB NM_000510.3(FSHB):c.*520C>GSNV Benign 304281 rs506306 11:30255867-30255867 11:30234320-30234320

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

73
# 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

GO Terms for Hypogonadotropic Hypogonadism 24 Without Anosmia

Sources for Hypogonadotropic Hypogonadism 24 Without Anosmia

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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