LHCGR gene related symptoms and diseases
All the information presented here about the LHCGR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LHCGR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Infertility | Uncommon - Between 30% and 50% cases |
| Acne | Uncommon - Between 30% and 50% cases |
| Enlarged ovaries | Uncommon - Between 30% and 50% cases |
| Amenorrhea | Uncommon - Between 30% and 50% cases |
| Neoplasm | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with LHCGR gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Absence of secondary sex characteristics
- Female hypogonadism
- Primary gonadal insufficiency
- Breast aplasia
- Aplasia of the uterus
- Male pseudohermaphroditism
- Decreased serum testosterone level
- Male hypogonadism
And 56 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LHCGR gene
Here you will find a list of rare diseases related to the LHCGR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
LEYDIG CELL HYPOPLASIA, TYPE I
Alternate names
LEYDIG CELL HYPOPLASIA, TYPE I Is also known as leydig cell agenesis, leydig cell hypoplasia, complete, hypergonadotropic hypogonadism, male, due to lhcgr defect, leydig cell hypoplasia with male pseudohermaphroditism
Description
Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000).
Most common symptoms of LEYDIG CELL HYPOPLASIA, TYPE I
- Cryptorchidism
- Hypospadias
- Delayed skeletal maturation
- Hypogonadism
- Micropenis
More info about LEYDIG CELL HYPOPLASIA, TYPE I
FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY
Alternate names
FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY Is also known as sexual precocity, familial, gonadotropin-independent, testotoxicosis, familial, familial gonadotropin-independent male-limited sexual precocity, fmpp, male-limited precocious puberty, testotoxicosis
Description
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
Most common symptoms of FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY
- Behavioral abnormality
- Attention deficit hyperactivity disorder
- Decreased testicular size
- Tall stature
- Abnormality of the hair
More info about FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY
LEYDIG CELL HYPOPLASIA DUE TO COMPLETE LH RESISTANCE
Alternate names
LEYDIG CELL HYPOPLASIA DUE TO COMPLETE LH RESISTANCE Is also known as 46,xy disorder of sex development due to complete luteinizing hormone resistance, 46,xy disorder of sex development due to complete lh receptor inactivation, 46,xy disorder of sex development due to complete luteinizing hormone receptor inactivation, 46,xy d
More info about LEYDIG CELL HYPOPLASIA DUE TO COMPLETE LH RESISTANCE
SOURCES: ORPHANET
LEYDIG CELL HYPOPLASIA DUE TO PARTIAL LH RESISTANCE
Alternate names
LEYDIG CELL HYPOPLASIA DUE TO PARTIAL LH RESISTANCE Is also known as 46,xy dsd due to partial lh receptor inactivation, 46,xy disorder of sex developement due to partial lh receptor inactivation, leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation, 46,xy disorder of sex developement due to partial
More info about LEYDIG CELL HYPOPLASIA DUE TO PARTIAL LH RESISTANCE
SOURCES: ORPHANET
Search interest in LHCGR
Potential gene panels for LHCGR gene
Male Precocious Puberty (LHCGR) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the LHCGR gene.
More info about this panel United States.
Male-Limited Precocious Puberty Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the LHCGR gene.
More info about this panel United States.
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel United States.
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1
More info about this panel United States.
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1
More info about this panel United States.
LHCGR. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LHCGR gene.
More info about this panel Spain.
Leydig cell adenoma, somatic, with precocious puberty (sequence analysis of LHCGR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LHCGR gene.
More info about this panel Portugal.
LHCGR-related Disorders via LHCGR Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LHCGR gene.
More info about this panel United States.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel United States.
Infertility panel Panel
Germany.
By Centogene AG - the Rare Disease Company Infertility panel that also includes the following genes: FSHB FSHR LHB LHCGR
More info about this panel Germany.
Leydig cell adenoma Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LHCGR gene.
More info about this panel Germany.
Leydig cell hypoplasia type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LHCGR gene.
More info about this panel Germany.
Single gene testing LHCGR Panel
Germany.
By CeGaT GmbH
This panel specifically test the LHCGR gene.
More info about this panel Germany.
qGenEx Sex development disorders Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panel Spain.
Leydig cell hypoplasia: LHCGR gene screening (exon 11) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LHCGR gene.
More info about this panel Spain.
Leydig cell hypoplasia: LHCGR gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LHCGR gene.
More info about this panel Spain.
Endocrine Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
Endocrine Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panel United States.
LHCGR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LHCGR gene.
More info about this panel United States.
Premature Ovarian Failure Panel Panel
Finland.
By Blueprint Genetics Premature Ovarian Failure Panel that also includes the following genes: BMP15 FOXL2 STAR WT1 NOBOX CYP17A1 CYP19A1 FSHR GALT GNAS
More info about this panel Finland.
Abnormal Genitalia/ Disorders of Sex Development Panel Panel
Finland.
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panel Finland.
Leydig cell hypoplasia Panel
Spain.
By Bioarray
This panel specifically test the LHCGR gene.
More info about this panel Spain.
Central Precocious Puberty NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Central Precocious Puberty NGS and Deletion/Duplication Panel that also includes the following genes: KISS1R KISS1 LHCGR MKRN3
More info about this panel United States.
LHCGR Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the LHCGR gene.
More info about this panel United States.
FAMILIAL GONADOTROPIN-INDEPENDENT MALE-LIMITED PRECOCIOUS PUBERTY (TESTOTOXICOSIS) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the LHCGR gene.
More info about this panel Spain.
Leydig Cell Hypoplasia , Sequencing LHCGR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LHCGR gene.
More info about this panel Spain.
Leydig Cell Hypoplasia , Sequencing Exon 11 LHCGR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LHCGR gene.
More info about this panel Spain.
Leydig cell agenesis Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the LHCGR gene.
More info about this panel Germany.
Phosphorus Male Infertility Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Male Infertility Panel that also includes the following genes: SRY AURKC USP9Y CATSPER1 CFTR DPY19L2 FSHB FSHR AR LHCGR
More info about this panel United States.
Phosphorus Female Infertility Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Male infertility genetic testing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Male infertility genetic testing that also includes the following genes: CATSPER1 CFTR FSHR AR LHCGR
More info about this panel Canada.
Female infertility genetic testing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Female infertility genetic testing that also includes the following genes: BMP15 ZP1 FMR1 FSHR LHB LHCGR
More info about this panel Canada.
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2
More info about this panel Canada.
Nonsyndromic disorders of sexual development: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic disorders of sexual development: gene sequencing panel that also includes the following genes: SRD5A2 STAR CBX2 CYP11A1 CYP17A1 AKR1C2 HSD17B3 HSD3B2 ANOS1 AR
More info about this panel Canada.
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