46,xy Partial Gonadal Dysgenesis

Description

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

Clinical Features

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

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis
  • Micropenis
  • Delayed puberty
  • Decreased testicular size
  • Ambiguous genitalia
  • Hypoplasia of penis

And another 33 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.

Alternative names

46,xy Partial Gonadal Dysgenesis Is also known as 46,xy partial testicular dysgenesis, 46,xy pgd.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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46,xy Partial Gonadal Dysgenesis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SRY Molecular Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SRY
Specificity
100 %
Genes
10 %
SRY-Related 46,XY and 46,XY sex reversal and gonadal dysgenesis.

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

SRY
Specificity
100 %
Genes
10 %
SRY-Related 46,XY DSD and 46,XY CGD - Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SRY
Specificity
100 %
Genes
10 %
SRY-Related 46,XY DSD and 46,XY CGD - Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SRY
Specificity
100 %
Genes
10 %
Sex Determination (SRY), DNA Analysis.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SRY
Specificity
100 %
Genes
10 %
Y Chromosome Deletion Testing.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation (United States).

SRY
Specificity
100 %
Genes
10 %
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
12 %
Genes
73 %
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
27 %
Genes
64 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2 FARBER LIPOGRANULOMATOSIS; FRBRL IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS ACROGERIA, GOTTRON TYPE AGAMMAGLOBULINEMIA, X-LINKED; XLA

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