17-beta Hydroxysteroid Dehydrogenase Iii Deficiency

Description

17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

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Clinical Features

Top most frequent phenotypes and symptoms related to 17-beta Hydroxysteroid Dehydrogenase Iii Deficiency

  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Infertility
  • Ambiguous genitalia
  • Gynecomastia
  • Hypogonadotrophic hypogonadism
  • Congenital hypothyroidism
  • Male pseudohermaphroditism
  • Oligospermia
View the complete list of symptoms

Incidence and onset information

Not enough data available about incidence and published cases.

17-beta Hydroxysteroid Dehydrogenase Iii Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
17-beta Hydroxysteroid Dehydrogenase III Deficiency.

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

HSD17B3
Specificity
100 %
Genes
50 %
Compare panel coverage
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
Compare panel coverage
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Compare panel coverage
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Compare panel coverage
Pseudohermaphroditism with gynecomastia (sequence analysis of HSD17B3 gene).

By CGC Genetics in Portugal.

HSD17B3
Specificity
100 %
Genes
50 %
Compare panel coverage
46,XY Disorder of Sex Development (DSD) via the HSD17B3 Gene.

By PreventionGenetics PreventionGenetics in United States.

HSD17B3
Specificity
100 %
Genes
50 %
Compare panel coverage
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
Compare panel coverage
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Compare panel coverage
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 76 more genes
Specificity
2 %
Genes
50 %
Compare panel coverage
Disorders of Sex Development Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
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Pseudohermaphroditism with gynecomastia.

By Centogene AG - the Rare Disease Company in Germany.

HSD17B3
Specificity
100 %
Genes
50 %
Compare panel coverage
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Compare panel coverage
HSD17B3.

By Fulgent Genetics Fulgent Genetics in United States.

HSD17B3
Specificity
100 %
Genes
50 %
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Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
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5-ALPHA REDUCTASE DEFICIENCY (MALE PSEUDOHERMAFRODISTISM).

By Laboratorio de Genetica Clinica SL in Spain.

HSD17B3, SRD5A2
Specificity
50 %
Genes
50 %
Compare panel coverage
Disorder of Sexual Development Screen (20 Genes + Molecular Karyotype).

By EVOLVEGENE EvolveGene in United States.

WT1, HSD17B4, CYP17A1, AR, SRY, EIF2B5, LMNA, EIF2B3, EIF2B2, EIF2B4, LHCGR, POR, NR5A1, HSD17B3, SRD5A2, CYP19A1, FIGLA, FSHR, BMP15, PSMC3IP
Specificity
5 %
Genes
50 %
Compare panel coverage
Nonsyndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

STAR, HSD3B2, CYP11A1, CYP17A1, AR, LHCGR, ANOS1, POR, HSD17B3, SRD5A2, AKR1C2, CBX2
Specificity
9 %
Genes
50 %
Compare panel coverage

Alternate names

17-beta Hydroxysteroid Dehydrogenase Iii Deficiency Is also known as 17-ketosteroid reductase deficiency of testis, 17-ksr deficiency, neutral 17-beta-hydroxysteroid oxidoreductase deficiency, pseudohermaphroditism, male, with gynecomastia;17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betahsd iii) deficiency is a rare disorder leading to male pseudohermaphroditism (mph), a condition characterized by incomplete differentiation of the male genitalia in 46x,y males..



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