LCH
MCID: LYD011
MIFTS: 34

Leydig Cell Hypoplasia (LCH)

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

Aliases & Classifications for Leydig Cell Hypoplasia

MalaCards integrated aliases for Leydig Cell Hypoplasia:

Name: Leydig Cell Hypoplasia 52 25 71
Male Hypergonadotropic Hypogonadism Due to Lhcgr Defect 52 25
46,xy Disorder of Sex Development Due to Lh Defects 52 25
Lh Resistance Due to Lh Receptor Deactivation 52 25
Leydig Cell Agenesis 52 25
46,xy Disorder of Sex Development Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 52
Male Pseudohermaphroditism Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 52
46,xy Dsd Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 52
46,xy Disorder of Sex Development Due to Lh Resistance or Lhb Deficiency 52
Male Pseudohermaphroditism Due to Lh Resistance or Lhb Deficiency 52
46,xy Dsd Due to Lh Resistance or Lhb Deficiency 52
Hypoplasia, Leydig Cell 39
Lch 25

Classifications:



Summaries for Leydig Cell Hypoplasia

NIH Rare Diseases : 52 Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development . It causes incomplete development of Leydig cells, which are cells in the testicles (testes ) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with LCH has typical male chromosomes (46, XY ), but due to low androgen levels, may have a range of genital differences. In a genetic male with LCH, the external genitalia may not look clearly male or female (ambiguous genitalia ). Specific features of LCH may include a small penis (micropenis), a urethra opening (hole) on the underside of the penis rather than at the tip (hypospadias ), and a scrotum that is divided into two halves (bifid scrotum). A person with a severe form of LCH may have only female external genitalia , and small undescended testes (located in the pelvis, abdomen, or groin). Males with severe LCH may not develop secondary sex characteristics during puberty, such as increased body hair, facial hair, and a deeper voice. LCH is caused by mutations in the LHCGR gene and inheritance is autosomal recessive . There is no standard treatment for LCH. Treatment depends on the features and severity in each person and may include hormone therapy ; surgery for undescended testes, removal of testes, or to correct genital differences; and assisted reproductive technology for infertility. A team of specialists often work together to identify treatment options for a person with LCH. Of note: Genetic females (46, XX) can also inherit the mutations that cause LCH in males. Genetic females with these mutations have normal female external genitalia and normal female development during puberty, but may have amenorrhea (absent periods) and infertility.

MalaCards based summary : Leydig Cell Hypoplasia, also known as male hypergonadotropic hypogonadism due to lhcgr defect, is related to pseudohermaphroditism and hypogonadism. An important gene associated with Leydig Cell Hypoplasia is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Prolactin Signaling Pathway and cAMP signaling pathway. Affiliated tissues include testes, breast and uterus, and related phenotypes are delayed skeletal maturation and cryptorchidism

Genetics Home Reference : 25 Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia). In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.

Wikipedia : 74 Leydig cell hypoplasia (or aplasia) (LCH), also known as Leydig cell agenesis, is a rare autosomal... more...

Related Diseases for Leydig Cell Hypoplasia

Diseases in the Leydig Cell Hypoplasia family:

Leydig Cell Hypoplasia, Type I

Diseases related to Leydig Cell Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphroditism 30.1 STON1-GTF2A1L LHCGR HSD17B3
2 hypogonadism 29.6 LHCGR CGA
3 ovarian disease 29.0 LHCGR CGA
4 cryptorchidism, unilateral or bilateral 28.9 LHCGR HSD17B3 CGA
5 leydig cell hypoplasia, type i 13.0
6 langerhans cell histiocytosis 12.5
7 lissencephaly with cerebellar hypoplasia 12.2
8 hypogonadotropic hypogonadism 23 without anosmia 11.7
9 letterer-siwe disease 11.7
10 lissencephaly 2 11.2
11 hashimoto-pritzker syndrome 11.2
12 histiocytosis 10.9
13 diabetes insipidus 10.4
14 hypogonadotropism 10.3
15 amenorrhea 10.2
16 bone disease 10.2
17 helix syndrome 10.1
18 46, xy disorders of sexual development 10.1
19 hypothyroidism 10.1
20 myeloproliferative neoplasm 10.1
21 juvenile xanthogranuloma 10.1
22 molluscum contagiosum 10.1
23 inguinal hernia 10.0
24 syndrome with 46,xy disorder of sex development 10.0
25 renal cell carcinoma, nonpapillary 10.0
26 hemophagocytic lymphohistiocytosis, familial, 1 10.0
27 lissencephaly 1 10.0
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
29 acute promyelocytic leukemia 10.0
30 leptin deficiency or dysfunction 10.0
31 hyperprolactinemia 10.0
32 hemophagocytic lymphohistiocytosis 10.0
33 lissencephaly 10.0
34 exanthem 10.0
35 lymphoma 10.0
36 hypogonadotropic hypogonadism 10.0
37 osteomyelitis 10.0
38 inflammatory spondylopathy 10.0
39 goiter 10.0
40 neutropenia 10.0
41 leukemia 10.0
42 pancytopenia 10.0
43 acute leukemia 10.0
44 hyperparathyroidism 10.0
45 toxic shock syndrome 10.0
46 sclerosing cholangitis 10.0
47 histoplasmosis 10.0
48 endodermal sinus tumor 10.0
49 hemangioma 10.0
50 capillary hemangioma 10.0

Graphical network of the top 20 diseases related to Leydig Cell Hypoplasia:



Diseases related to Leydig Cell Hypoplasia

Symptoms & Phenotypes for Leydig Cell Hypoplasia

Human phenotypes related to Leydig Cell Hypoplasia:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 hallmark (90%) HP:0002750
2 cryptorchidism 31 hallmark (90%) HP:0000028
3 increased circulating gonadotropin level 31 hallmark (90%) HP:0000837
4 primary amenorrhea 31 hallmark (90%) HP:0000786
5 male hypogonadism 31 hallmark (90%) HP:0000026
6 hypospadias 31 hallmark (90%) HP:0000047
7 hypergonadotropic hypogonadism 31 hallmark (90%) HP:0000815
8 absence of secondary sex characteristics 31 hallmark (90%) HP:0008187
9 decreased serum testosterone level 31 hallmark (90%) HP:0040171
10 micropenis 31 hallmark (90%) HP:0000054
11 male pseudohermaphroditism 31 hallmark (90%) HP:0000037
12 ambiguous genitalia 31 hallmark (90%) HP:0000062
13 aplasia of the uterus 31 hallmark (90%) HP:0000151
14 breast aplasia 31 hallmark (90%) HP:0100783
15 female hypogonadism 31 hallmark (90%) HP:0000134
16 primary gonadal insufficiency 31 hallmark (90%) HP:0008193
17 hyoplasia of the leydig cells 31 hallmark (90%) HP:0010790
18 secondary amenorrhea 31 occasional (7.5%) HP:0000869
19 testicular gonadoblastoma 31 occasional (7.5%) HP:0000030
20 abnormal vas deferens morphology 31 occasional (7.5%) HP:0012872

Drugs & Therapeutics for Leydig Cell Hypoplasia

Search Clinical Trials , NIH Clinical Center for Leydig Cell Hypoplasia

Genetic Tests for Leydig Cell Hypoplasia

Anatomical Context for Leydig Cell Hypoplasia

MalaCards organs/tissues related to Leydig Cell Hypoplasia:

40
Testes, Breast, Uterus, T Cells, Testis, Bone, Lung

Publications for Leydig Cell Hypoplasia

Articles related to Leydig Cell Hypoplasia:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. 61 52
29305568 2018
2
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia 61
30444213 2019
3
Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor. 61
30711030 2019
4
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation. 61
26554443 2016
5
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. 61
26246498 2015
6
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development. 61
25893774 2015
7
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1. 61
25795638 2015
8
What lessons can be learned from testicular histology in undescended testes? 61
26816792 2014
9
Etiological diagnosis of undervirilized male/XY disorder of sex development. 61
25327912 2014
10
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. 61
25079470 2014
11
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. 61
24792890 2014
12
The ERK1/2 pathway regulates testosterone synthesis by coordinately regulating the expression of steroidogenic genes in Leydig cells. 61
23480967 2013
13
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II. 61
23232123 2013
14
Gonadotropin resistance. 61
23392092 2013
15
Inactivating mutations of the human luteinizing hormone receptor in both sexes. 61
23044874 2012
16
Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor. 61
22002533 2012
17
The Leydig cell MEK/ERK pathway is critical for maintaining a functional population of adult Leydig cells and for fertility. 61
21527500 2011
18
Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist. 61
21482767 2011
19
Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD. 61
21691974 2011
20
46,XY DSD due to impaired androgen production. 61
20541150 2010
21
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. 61
19551906 2009
22
The undescended testis: diagnosis, treatment and long-term consequences. 61
19738919 2009
23
Diseases associated with mutations of the human lutropin receptor. 61
20374734 2009
24
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. 61
18433292 2008
25
Biological effect of a novel mutation in the third leucine-rich repeat of human luteinizing hormone receptor. 61
16709601 2006
26
Inactivating mutations of LH and FSH receptors--from genotype to phenotype. 61
17021580 2006
27
[Leydig cell hypoplasia (Leydig cell aplasia)]. 61
16817462 2006
28
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. 61
15745934 2005
29
[Leydig cell hypoplasia]. 61
16544038 2005
30
Disorders of sexual development caused by luteinizing hormone receptor mutations. 61
15719037 2005
31
Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. 61
15751609 2005
32
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. 61
16433250 2005
33
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain. 61
15607529 2005
34
Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility. 61
15569941 2004
35
Detection of rare Leydig cell hypoplasia in somatic cell cloned male piglets. 61
15751539 2004
36
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. 61
15372531 2004
37
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. 61
15472221 2004
38
[Leydig cell hypoplasia(agenesis)]. 61
14968545 2004
39
LH receptor defects. 61
12428200 2002
40
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. 61
12050206 2002
41
[Inactivating and activating mutations of the human LH/hCG receptor leading to male pseudohermaphroditism and familial male-limited precocious puberty]. 61
11857912 2002
42
Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. 61
11849253 2002
43
Molecular basis of androgen insensitivity. 61
11420135 2001
44
Etiological studies of severe or familial hypospadias. 61
11257695 2001
45
Müllerian Inhibiting Substance lowers testosterone in luteinizing hormone-stimulated rodents. 61
11248089 2001
46
Effect of activating and inactivating mutations on the phosphorylation and trafficking of the human lutropin/choriogonadotropin receptor. 61
11075813 2000
47
Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH. 61
10852464 2000
48
Luteinizing hormone receptor mutations in disorders of sexual development and cancer. 61
10704433 2000
49
Naturally occurring mutations of the luteinizing hormone receptor gene affecting reproduction. 61
11299516 2000
50
Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. 61
10714363 1999

Variations for Leydig Cell Hypoplasia

Expression for Leydig Cell Hypoplasia

Search GEO for disease gene expression data for Leydig Cell Hypoplasia.

Pathways for Leydig Cell Hypoplasia

Pathways related to Leydig Cell Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 LHCGR CGA
2 11.66 LHCGR CGA
3 11.42 LHCGR CGA
4
Show member pathways
11.1 HSD17B3 CGA
5 10.65 LHCGR CGA
6 9.74 LHCGR CGA

GO Terms for Leydig Cell Hypoplasia

Biological processes related to Leydig Cell Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male genitalia development GO:0030539 8.62 LHCGR HSD17B3

Sources for Leydig Cell Hypoplasia

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
Content
Loading form....