Hypogonadotropic Hypogonadism 24 Without Anosmia; Hh24

Description

Subnormal concentration of follicle stimulating hormone.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypogonadotropic Hypogonadism 24 Without Anosmia; Hh24

  • Abnormality of metabolism/homeostasis
  • Delayed skeletal maturation
  • Delayed puberty
  • Infertility
  • Decreased testicular size
  • Amenorrhea
  • Primary amenorrhea
  • Hypogonadotrophic hypogonadism
  • Azoospermia
  • Decreased muscle mass
And another 19 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hypogonadotropic Hypogonadism 24 Without Anosmia; Hh24 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Follicle-stimulating hormone deficiency, isolated (sequence analysis of FSHB gene).

By CGC Genetics in Portugal.

FSHB
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 %
Male and Female Infertility via the FSHB Gene.

By PreventionGenetics PreventionGenetics in United States.

FSHB
Specificity
100 %
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 %
Infertility panel.

By Centogene AG - the Rare Disease Company in Germany.

LHCGR, FSHR, LHB, FSHB
Specificity
25 %
Genes
100 %
Follicle-stimulating hormone deficiency, isolated.

By Centogene AG - the Rare Disease Company in Germany.

FSHB
Specificity
100 %
Genes
100 %
Single gene testing FSHB.

By CeGaT GmbH in Germany.

FSHB
Specificity
100 %
Genes
100 %
Male Factor Infertility.

By Asper Biogene Asper Biogene LLC in Estonia.

FMR1, CFTR, GNRHR, DNAH11, DNAH5, DNAI1, FSHB, INSL3, UTP14C, USP26, TEKT2, RBMXL2, PRM3, PRM2, PRM1, PRDM9, NLRP14, ESR2, DDX25, XIST , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
FSHB.

By Fulgent Genetics Fulgent Genetics in United States.

FSHB
Specificity
100 %
Genes
100 %
Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

FOXL2, STAR, CYP17A1, NR5A1, CYP19A1, WNT4, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, FSHB, POF1B, DIAPH2
Specificity
8 %
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 %
Phosphorus Male Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

AR, CFTR, SRY, LHCGR, FSHR, FSHB, DPY19L2, AURKC, CATSPER1, USP9Y
Specificity
10 %
Genes
100 %
Phosphorus Female Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

F2, F5, FMR1, FOXL2, CYP11A1, GALT, CYP17A1, LHCGR, KISS1R, GNRHR, NR5A1, GNAS, PROS1, PROC, CYP19A1, NOBOX, BMP15, FSHR, FSHB, SERPINC1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

Alternate names

Hypogonadotropic Hypogonadism 24 Without Anosmia; Hh24 Is also known as follicle-stimulating hormone deficiency, isolated;isolated fsh deficiency.


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