LHB gene related symptoms and diseases

All the information presented here about the LHB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LHB gene

Symptoms // Phenotype % Cases
Abnormality of metabolism/homeostasis Common - Between 50% and 80% cases
Enlarged ovaries Common - Between 50% and 80% cases
Infertility Common - Between 50% and 80% cases
Amenorrhea Common - Between 50% and 80% cases
Oligomenorrhea Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with LHB gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hypogonadotrophic hypogonadism
  • Conjunctival hyperemia
  • Beta-cell dysfunction
  • Hypogonadism
  • Micropenis
  • Decreased testicular size
  • Gynecomastia
  • Hypergonadotropic hypogonadism

And 37 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to LHB gene

Here you will find a list of rare diseases related to the LHB. 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

SOURCES: OMIM MESH

LEYDIG CELL HYPOPLASIA DUE TO LHB DEFICIENCY

Alternate names

LEYDIG CELL HYPOPLASIA DUE TO LHB DEFICIENCY Is also known as 46,xy dsd due to lhb deficiency, leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency, 46,xy disorder of sex development due to lhb deficiency, 46,xy dsd due to luteinizing hormone subunit beta deficiency, 46,xy disorder of sex developmen


More info about LEYDIG CELL HYPOPLASIA DUE TO LHB DEFICIENCY

SOURCES: ORPHANET

HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23

Alternate names

HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 Is also known as fertile eunuch syndrome, pasqualini syndrome

Description

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}. ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see {238320}): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

Most common symptoms of HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23

  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Micropenis
  • Infertility
  • Decreased testicular size


More info about HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23

SOURCES: OMIM


Potential gene panels for LHB gene

Hypogonadotropic Hypogonadism Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Sequencing Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel
United States.

Hypogonadotropic Hypogonadism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Deletion/Duplication Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel
United States.

Kallmann Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Kallmann Syndrome Sequencing Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel
United States.

Hypogonadism, hypergonadotropic (sequence analysis of LHB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LHB gene.

More info about this panel
Portugal.

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel
Portugal.

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel
Portugal.

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.

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.

LHB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LHB gene.

More info about this panel
United States.

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Panel

Spain.

By Laboratorio de Genetica Clinica SL NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM that also includes the following genes: GNRHR KISS1R KISS1 LHB

More info about this panel
Spain.

HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel
Spain.

Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 PROKR2 PROK2 CHD7 NSMF POLR3B FGF8

More info about this panel
Spain.

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.

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