46,xx Gonadal Dysgenesis

Incidence and onset information

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

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 Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Close 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 Panel complete gene list SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3, AR, LHCGR, MAP3K1, NR5A1, OPHN1, ATRX Close 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 Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Close 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 Panel complete gene list SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3, AR, LHCGR, MAP3K1, NR5A1, OPHN1, ATRX Close 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 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREMATURE OVARIAN FAILURE 11; POF11 SECKEL SYNDROME KNOBLOCH SYNDROME 1; KNO1 BARDET-BIEDL SYNDROME 21; BBS21 2P21 MICRODELETION SYNDROME