46,xx Testicular Disorder Of Sex Development

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

Genes related to 46,xx Testicular Disorder Of Sex Development

SRY
NR5A1
SOX9
NR0B1
SOX3

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Clinical Features

Phenotypes and symptoms related to 46,xx Testicular Disorder Of Sex Development

Decreased testicular size
Ambiguous genitalia
Polycystic ovaries
Male hypogonadism

Incidence and onset information

— Based on the latest data available 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT have a estimated prevalence of 2.5 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

46,xx Testicular Disorder Of Sex Development Is also known as de la chapelle syndrome, 46,xx testicular dsd, xx, male syndrome.

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.

46,xx Testicular Disorder Of Sex Development Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SRY Molecular Analysis. By Baylor Miraca Genetics Laboratories (United States). SRY Specificity 100 % Genes 20 %
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 20 %
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 20 %
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 20 %
Sex Determination (SRY), DNA Analysis. By Molecular Diagnostic Laboratory University of Alberta (Canada). SRY Specificity 100 % Genes 20 %
Y Chromosome Deletion Testing. By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation (United States). SRY Specificity 100 % Genes 20 %
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 Specificity 6 % Genes 80 %
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 Specificity 12 % Genes 60 %

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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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