MCID: LYD011
MIFTS: 35

Leydig Cell Hypoplasia

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

Aliases & Classifications for Leydig Cell Hypoplasia

MalaCards integrated aliases for Leydig Cell Hypoplasia:

Name: Leydig Cell Hypoplasia 53 25 73
Male Hypergonadotropic Hypogonadism Due to Lhcgr Defect 53 25
46,xy Disorder of Sex Development Due to Lh Defects 53 25
Lh Resistance Due to Lh Receptor Deactivation 53 25
Leydig Cell Agenesis 53 25
46,xy Disorder of Sex Development Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 53
Male Pseudohermaphroditism Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 53
46,xy Dsd Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency 53
46,xy Disorder of Sex Development Due to Lh Resistance or Lhb Deficiency 53
Male Pseudohermaphroditism Due to Lh Resistance or Lhb Deficiency 53
46,xy Dsd Due to Lh Resistance or Lhb Deficiency 53
Hypoplasia, Leydig Cell 40
Lch 25

Classifications:



Summaries for Leydig Cell Hypoplasia

NIH Rare Diseases : 53 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 leydig cell hypoplasia, type i. 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 G alpha (s) signalling events. Affiliated tissues include testes and uterus, and related phenotypes are male hypogonadism 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.

Wikipedia : 76 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 all 12)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphroditism 29.2 HSD17B3 LHCGR
2 leydig cell hypoplasia, type i 12.6
3 langerhans cell histiocytosis 12.1
4 lissencephaly with cerebellar hypoplasia 11.8
5 hypogonadotropic hypogonadism 23 without anosmia 11.4
6 letterer-siwe disease 11.0
7 lissencephaly 2 10.9
8 penis agenesis 9.8 CGA LHCGR
9 hypogonadism 9.8
10 sex differentiation disease 9.4 HSD17B3 LHCGR
11 gynecomastia 9.3 CGA HSD17B3
12 hypospadias 9.0 HSD17B3 LHCGR

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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 male hypogonadism 32 hallmark (90%) HP:0000026
2 cryptorchidism 32 hallmark (90%) HP:0000028
3 testicular gonadoblastoma 32 occasional (7.5%) HP:0000030
4 male pseudohermaphroditism 32 hallmark (90%) HP:0000037
5 hypospadias 32 hallmark (90%) HP:0000047
6 micropenis 32 hallmark (90%) HP:0000054
7 ambiguous genitalia 32 hallmark (90%) HP:0000062
8 female hypogonadism 32 hallmark (90%) HP:0000134
9 aplasia of the uterus 32 hallmark (90%) HP:0000151
10 primary amenorrhea 32 hallmark (90%) HP:0000786
11 hypergonadotropic hypogonadism 32 hallmark (90%) HP:0000815
12 increased circulating gonadotropin level 32 hallmark (90%) HP:0000837
13 secondary amenorrhea 32 occasional (7.5%) HP:0000869
14 delayed skeletal maturation 32 hallmark (90%) HP:0002750
15 absence of secondary sex characteristics 32 hallmark (90%) HP:0008187
16 primary gonadal insufficiency 32 hallmark (90%) HP:0008193
17 hyoplasia of the leydig cells 32 hallmark (90%) HP:0010790
18 abnormal vas deferens morphology 32 occasional (7.5%) HP:0012872
19 decreased serum testosterone level 32 hallmark (90%) HP:0040171
20 breast aplasia 32 hallmark (90%) HP:0100783

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:

41
Testes, Uterus

Publications for Leydig Cell Hypoplasia

Articles related to Leydig Cell Hypoplasia:

(show all 27)
# Title Authors Year
1
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. ( 29305568 )
2018
2
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. ( 26246498 )
2015
3
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1. ( 25795638 )
2015
4
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. ( 25079470 )
2014
5
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. ( 24792890 )
2014
6
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II. ( 23232123 )
2013
7
Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD. ( 21691974 )
2011
8
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain. ( 15607529 )
2005
9
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. ( 16433250 )
2005
10
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. ( 15745934 )
2005
11
Detection of rare Leydig cell hypoplasia in somatic cell cloned male piglets. ( 15751539 )
2004
12
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. ( 15472221 )
2004
13
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in Leydig cell hypoplasia. ( 15372531 )
2004
14
Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. ( 11849253 )
2002
15
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. ( 12050206 )
2002
16
Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. ( 10523033 )
1999
17
Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. ( 9817592 )
1998
18
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. ( 9626653 )
1998
19
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. ( 8843415 )
1996
20
Laparoscopic bilateral gonadectomy in a phenotypic woman with a form of Leydig cell hypoplasia. ( 9050648 )
1996
21
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. ( 7581384 )
1995
22
Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this. ( 1617805 )
1992
23
Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. ( 3557461 )
1987
24
Leydig cell hypoplasia causing male pseudohermaphroditism: case report and review of the literature. ( 3135571 )
1987
25
Male pseudohermaphroditism resulting from Leydig cell hypoplasia. ( 3998941 )
1985
26
Leydig cell hypoplasia causing male pseudohermaphroditism: diagnosis 13 years after prepubertal castration. ( 6319451 )
1984
27
Leydig cell hypoplasia: a cause of male pseudohermaphroditism. ( 221512 )
1978

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

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 HSD17B3 LHCGR

Sources for Leydig Cell Hypoplasia

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10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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32 HPO
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45 MESH via Orphanet
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57 OMIM
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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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