Hypogonadotropic Hypogonadism 11 With Or Without Anosmia; Hh11

Description

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder 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. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Clinical Features

Phenotypes and symptoms related to Hypogonadotropic Hypogonadism 11 With Or Without Anosmia; Hh11

  • Cryptorchidism
  • Micropenis
  • Decreased testicular size
  • Primary amenorrhea
  • Hypogonadotrophic hypogonadism
  • Microphallus
  • Absence of pubertal development

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hypogonadotropic Hypogonadism 11 With Or Without Anosmia; Hh11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Normosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2
Specificity
15 %
Genes
100 %
TACR3 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

TACR3
Specificity
100 %
Genes
100 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
10 %
Genes
100 %
TACR3-Related Isolated Gonadotropin-Releasing Hormone Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

TACR3
Specificity
100 %
Genes
100 %
Hypogonadotropic Hypogonadism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11, TAC3
Specificity
6 %
Genes
100 %
Kallmann Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FGF17, WDR11, TAC3, KISS1
Specificity
6 %
Genes
100 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11, TAC3
Specificity
6 %
Genes
100 %
Hypogonadotropic hypogonadism 11 with or without anosmia (sequence analysis of TACR3 gene).

By CGC Genetics in Portugal.

TACR3
Specificity
100 %
Genes
100 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HESX1, CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, SEMA3A, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HESX1, CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, SEMA3A, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Idiopathic Hypogonadotropic Hypogonadism (IHH) via TACR3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TACR3
Specificity
100 %
Genes
100 %
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, FGFR1, TACR3, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SOX10, IL17RD
Specificity
10 %
Genes
100 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOX2, HESX1, CHD7, LEP, LEPR, PCSK1, PROP1, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SOX10, SEMA3E, SOX3 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Hypogonadotropic hypogonadism 11 with or without anosmia.

By Centogene AG - the Rare Disease Company in Germany.

TACR3
Specificity
100 %
Genes
100 %
Hypogonadotropic hypogonadism: TACR3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TACR3
Specificity
100 %
Genes
100 %
KALLMANN SYNDROME AND RELATED DISORDERS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SEMA3A, NSMF, WDR11, TAC3, KISS1, HS6ST1
Specificity
7 %
Genes
100 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Kallmann Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, FGF8, ANOS1, SEMA3A, NSMF, TAC3, KISS1
Specificity
8 %
Genes
100 %
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, FGF8, ANOS1, NSMF, TAC3, KISS1
Specificity
8 %
Genes
100 %
TACR3.

By Fulgent Genetics Fulgent Genetics in United States.

TACR3
Specificity
100 %
Genes
100 %
Kallmann Syndrome Panel.

By Blueprint Genetics in Finland.

CHD7, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
12 %
Genes
100 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Kallmann syndrome/gonadotropin-releasing hormone deficiency panel.

By LifeLabs Genetics in Canada.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, SEMA3A, TAC3
Specificity
10 %
Genes
100 %
Hypogonadotropic Hypogonadism , Sequencing TACR3 Gene.

By Reference Laboratory Genetics in Spain.

TACR3
Specificity
100 %
Genes
100 %
Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SEMA3A, NSMF, LHB, FSHB, WDR11, TAC3, KISS1, POLR3B, HS6ST1
Specificity
5 %
Genes
100 %
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CHD7, FGFR1, TACR3, GNRHR, PROKR2, ANOS1, SOX10, IL17RD
Specificity
13 %
Genes
100 %


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