46,xx Gonadal Dysgenesis

Description

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

Clinical Features

Top most frequent phenotypes and symptoms related to 46,xx Gonadal Dysgenesis

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis
  • Delayed skeletal maturation
  • Osteopenia
  • Delayed puberty
  • Arachnodactyly
  • Ambiguous genitalia

And another 15 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.
No data available about the known clinical features onset.

Alternative names

46,xx Gonadal Dysgenesis Is also known as xx female gonadal dysgenesis, 46,xx pure gonadal dysgenesis, 46,xx complete gonadal dysgenesis, follicular stimulating hormone-resistant ovaries, hypergonadotropic ovarian dysgenesis, xx-gd, 46,xx ovarian dysgenesis, fsh-ro.

Researches and researchers

Doctors, researchs, and experts related to 46,xx Gonadal Dysgenesis extracted from public data.

46,xx Gonadal Dysgenesis Experts map



Current Researchs and researchers

  • LE KREMLIN-BICÊTRE — Pr Micheline MISRAHI

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — CHU Paris-Sud - Hôpital de Bicêtre
    • Research area/topic::

      Pilot study to validate the genetic diagnosis of premature ovarian faillure by exome sequencing


  • PARIS — Pr Sophie CHRISTIN-MAITRE

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — CHU Paris Est - Hôpital Saint-Antoine
    • Research area/topic::

      NGS analysis of breakpoints in chromosomal rearrangements in women with premature ovarian failure


  • LÜBECK — Pr Ute THYEN

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Schleswig-Holstein - Campus Lübeck
      — Universitätsklinikum Schleswig-Holstein - Campus Lübeck
    • Research area/topic::

      Network DSD/Intersexuality



Mendelian

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46,xx Gonadal Dysgenesis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ovarian Insufficiency.

By Center for Human Genetics, Inc (United States).

NR5A1
Specificity
100 %
Genes
15 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
15 %
Premature Ovarian Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
40 %
Genes
58 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
15 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS, NR5A1
Specificity
23 %
Genes
29 %
Premature Ovarian Failure Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
40 %
Genes
58 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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