46,xy Disorder Of Sex Development Due To Isolated 17,20-lyase Deficiency

Description

46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.

Clinical Features

Top most frequent phenotypes and symptoms related to 46,xy Disorder Of Sex Development Due To Isolated 17,20-lyase Deficiency

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis
  • Micropenis
  • Delayed puberty
  • Decreased testicular size
  • Primary amenorrhea

And another 26 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

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46,xy Disorder Of Sex Development Due To Isolated 17,20-lyase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
CYP17A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP17A1
Specificity
100 %
Genes
50 %
CYP17A1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP17A1
Specificity
100 %
Genes
50 %
CYP17A1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP17A1
Specificity
100 %
Genes
50 %
CYP17A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP17A1
Specificity
100 %
Genes
50 %
CYP17A1 Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CYP17A1
Specificity
100 %
Genes
50 %
CYP17A1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CYP17A1
Specificity
100 %
Genes
50 %
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
3 %
Genes
100 %

We have 41 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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