MCID: HYP763
MIFTS: 40

Hypogonadotropic Hypogonadism 23 Without Anosmia

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 23 Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 23 Without Anosmia:

Name: Hypogonadotropic Hypogonadism 23 Without Anosmia 57 75
Fertile Eunuch Syndrome 57 12 53 75 37 13
Hypogonadotropic Hypogonadism 23 with or Without Anosmia 57 12 15
Pasqualini Syndrome 57 12 75
46,xy Disorder of Sex Development Due to Luteinizing Hormone Subunit Beta Deficiency 12 59
Leydig Cell Hypoplasia Due to Luteinizing Hormone Subunit Beta Deficiency 12 59
46,xy Dsd Due to Luteinizing Hormone Subunit Beta Deficiency 12 59
46,xy Disorder of Sex Development Due to Lhb Deficiency 12 59
Leydig Cell Hypoplasia Due to Lhb Deficiency 12 59
46,xy Dsd Due to Lhb Deficiency 12 59
Hh23 57 75
Eunuchoidism with Spermatogenesis, Normal Fsh and Low or Normal Interstitial Cell-Stimulating Hormone 53
Isolated Lutropin Deficiency 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used
affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles


HPO:

32
hypogonadotropic hypogonadism 23 without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 228300
Disease Ontology 12 DOID:0090091
ICD10 33 Q56.1
Orphanet 59 ORPHA325448
ICD10 via Orphanet 34 Q56.1
MedGen 42 C0271582
MeSH 44 D005058
KEGG 37 H01973
UMLS 73 C0271582

Summaries for Hypogonadotropic Hypogonadism 23 Without Anosmia

OMIM : 57 Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012). For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see 147950. (228300)

MalaCards based summary : Hypogonadotropic Hypogonadism 23 Without Anosmia, also known as fertile eunuch syndrome, is related to hypogonadism and eunuchism. An important gene associated with Hypogonadotropic Hypogonadism 23 Without Anosmia is LHB (Luteinizing Hormone Beta Polypeptide), and among its related pathways/superpathways are Ovarian steroidogenesis and Prolactin signaling pathway. Affiliated tissues include pituitary, testes and ovary, and related phenotypes are abnormality of metabolism/homeostasis and secondary amenorrhea

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 23 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. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea.

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.\n

Related Diseases for Hypogonadotropic Hypogonadism 23 Without Anosmia

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism 23 Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism 23 Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 23 Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
secondary amenorrhea
oligomenorrhea after menarche
small to normal uterus
multicystic ovaries

Endocrine Features:
hypogonadotropic hypogonadism
low testosterone levels
delayed or absent puberty in males
spontaneous normal puberty in females
low to undetectable luteinizing hormone levels
more
Head And Neck Nose:
normal sense of smell

GenitourinaryInternal GenitaliaMale:
small or normal testes
low semen volume
reduced or absent spermatogenesis
reduced or absent leydig cells
testicular microlithiasis

Chest Breasts:
gynecomastia

Genitourinary External Genitalia Male:
small penis

Skin Nails Hair Hair:
sparse to absent male facial hair
sparse to absent axillary hair
sparse to absent pubic hair

Voice:
juvenile voice


Clinical features from OMIM:

228300

Human phenotypes related to Hypogonadotropic Hypogonadism 23 Without Anosmia:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 secondary amenorrhea 32 HP:0000869
3 hypogonadotrophic hypogonadism 32 HP:0000044
4 decreased serum testosterone level 32 HP:0040171
5 gynecomastia 32 HP:0000771
6 abnormal spermatogenesis 32 HP:0008669
7 micropenis 32 HP:0000054
8 abnormality of the leydig cells 32 HP:0010789
9 ovarian cyst 32 HP:0000138
10 sparse pubic hair 32 HP:0002225
11 sparse axillary hair 32 HP:0002215
12 decreased circulating luteinizing hormone level 32 HP:0030344
13 androgen insufficiency 32 HP:0008226
14 testicular microlithiasis 32 HP:0012215

MGI Mouse Phenotypes related to Hypogonadotropic Hypogonadism 23 Without Anosmia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.26 FSHR GNRH1 GNRHR LHB
2 reproductive system MP:0005389 8.92 FSHR GNRH1 GNRHR LHB

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 23 Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 23 Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 23 Without Anosmia

Anatomical Context for Hypogonadotropic Hypogonadism 23 Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 23 Without Anosmia:

41
Pituitary, Testes, Ovary, Uterus

Publications for Hypogonadotropic Hypogonadism 23 Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 23 Without Anosmia:

# Title Authors Year
1
Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus. ( 23678225 )
2013
2
Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone. ( 14709845 )
2003
3
Fertile eunuch syndrome versus classic hypogonadotrophic hypogonadism. ( 343467 )
1978
4
The fertile eunuch syndrome. An isolated leydig-cell failure? ( 883676 )
1977

Variations for Hypogonadotropic Hypogonadism 23 Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 23 Without Anosmia:

75
# Symbol AA change Variation ID SNP ID
1 LHB p.Gln74Arg VAR_003189 rs5030773

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 23 Without Anosmia:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 LHB NM_000894.2(LHB): c.221A> G (p.Gln74Arg) single nucleotide variant Pathogenic rs5030773 GRCh37 Chromosome 19, 49519530: 49519530
2 LHB NM_000894.2(LHB): c.221A> G (p.Gln74Arg) single nucleotide variant Pathogenic rs5030773 GRCh38 Chromosome 19, 49016273: 49016273
3 LHB NM_000894.2(LHB): c.167G> A (p.Gly56Asp) single nucleotide variant Pathogenic rs121912517 GRCh37 Chromosome 19, 49519820: 49519820
4 LHB NM_000894.2(LHB): c.167G> A (p.Gly56Asp) single nucleotide variant Pathogenic rs121912517 GRCh38 Chromosome 19, 49016563: 49016563
5 LHB NM_000894.2(LHB): c.183+1G> C single nucleotide variant Pathogenic rs786204822 GRCh38 Chromosome 19, 49016546: 49016546
6 LHB NM_000894.2(LHB): c.183+1G> C single nucleotide variant Pathogenic rs786204822 GRCh37 Chromosome 19, 49519803: 49519803
7 LHB NM_000894.2(LHB): c.88_96delCACCCCATC (p.His30_Ile32del) deletion Pathogenic rs786204823 GRCh38 Chromosome 19, 49016634: 49016642
8 LHB NM_000894.2(LHB): c.88_96delCACCCCATC (p.His30_Ile32del) deletion Pathogenic rs786204823 GRCh37 Chromosome 19, 49519891: 49519899
9 LHB NM_000894.2(LHB): c.28_39delTTGCTGCTGCTG (p.Leu10_Leu13del) deletion Pathogenic rs769066903 GRCh38 Chromosome 19, 49016691: 49016702
10 LHB NM_000894.2(LHB): c.28_39delTTGCTGCTGCTG (p.Leu10_Leu13del) deletion Pathogenic rs769066903 GRCh37 Chromosome 19, 49519948: 49519959
11 LHB NM_000894.2(LHB): c.183+1G> T single nucleotide variant Pathogenic rs786204822 GRCh38 Chromosome 19, 49016546: 49016546
12 LHB NM_000894.2(LHB): c.183+1G> T single nucleotide variant Pathogenic rs786204822 GRCh37 Chromosome 19, 49519803: 49519803
13 LHB NM_000894.2(LHB): c.183+11T> C single nucleotide variant Benign rs2387588 GRCh38 Chromosome 19, 49016536: 49016536
14 LHB NM_000894.2(LHB): c.183+11T> C single nucleotide variant Benign rs2387588 GRCh37 Chromosome 19, 49519793: 49519793
15 LHB NM_000894.2(LHB): c.132A> C (p.Pro44=) single nucleotide variant Benign rs1056914 GRCh38 Chromosome 19, 49016598: 49016598
16 LHB NM_000894.2(LHB): c.132A> C (p.Pro44=) single nucleotide variant Benign rs1056914 GRCh37 Chromosome 19, 49519855: 49519855
17 LHB NM_000894.2(LHB): c.114C> G (p.Val38=) single nucleotide variant Benign rs6521 GRCh38 Chromosome 19, 49016616: 49016616
18 LHB NM_000894.2(LHB): c.114C> G (p.Val38=) single nucleotide variant Benign rs6521 GRCh37 Chromosome 19, 49519873: 49519873
19 LHB NM_000894.2(LHB): c.16-26T> C single nucleotide variant Benign rs4002462 GRCh38 Chromosome 19, 49016740: 49016740
20 LHB NM_000894.2(LHB): c.16-26T> C single nucleotide variant Benign rs4002462 GRCh37 Chromosome 19, 49519997: 49519997

Expression for Hypogonadotropic Hypogonadism 23 Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 23 Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 23 Without Anosmia

Pathways related to Hypogonadotropic Hypogonadism 23 Without Anosmia according to KEGG:

37
# Name Kegg Source Accession
1 Ovarian steroidogenesis hsa04913
2 Prolactin signaling pathway hsa04917

Pathways related to Hypogonadotropic Hypogonadism 23 Without Anosmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 FSHR GNRH1 GNRHR LHB
2
Show member pathways
12.46 FSHR GNRHR LHB
3
Show member pathways
11.72 GNRH1 GNRHR LHB
4 11.57 FSHR LHB
5 11.33 FSHR GNRHR
6 10.85 FSHR LHB
7 10.04 FSHR GNRH1 GNRHR LHB

GO Terms for Hypogonadotropic Hypogonadism 23 Without Anosmia

Biological processes related to Hypogonadotropic Hypogonadism 23 Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.46 FSHR GNRH1 GNRHR LHB
2 male gonad development GO:0008584 9.26 FSHR LHB
3 hormone-mediated signaling pathway GO:0009755 8.96 FSHR LHB
4 G-protein coupled receptor signaling pathway GO:0007186 8.92 FSHR GNRH1 GNRHR LHB

Molecular functions related to Hypogonadotropic Hypogonadism 23 Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.96 GNRH1 LHB
2 protein-hormone receptor activity GO:0016500 8.62 FSHR GNRHR

Sources for Hypogonadotropic Hypogonadism 23 Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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