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

Similar diseases

Genes related to 17-beta Hydroxysteroid Dehydrogenase Iii Deficiency

HSD17B3
HSD17B3-AS1

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 Panel GTR000528876 complete gene list STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4, LMNA, NR0B1, LHCGR, KISS1R, ANOS1, ATRX, OPHN1, SETBP1, SALL1, FAT4, POR, SOX9, RIPK4, SCARF2, NR5A1, HSD17B3, SRD5A2, GATA4, CEP41, DHCR24, BMP4, B3GLCT, TCTN3, UBR1, AKR1C2, CYP19A1, DYNC2H1, GRIP1, ESCO2, FREM2, HOXA13, IL17RD, DHH, DNMT3B, ROR2, SEMA3A, TBX15, WNT4, WNT7A, TSPYL1, CCNQ, ZFPM2, MAP3K1, NSMF, RSPO1, FRAS1, IRF6, ICK, FEZF1, NEK1, SPECC1L, WDR60 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 Panel GTR000528538 complete gene list WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1, DHH, ZFPM2, MAP3K1, MAMLD1, AMH, AMHR2 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 Panel GTR000558944 complete gene list WT1, CYP11A1, HCCS, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, LHCGR, ATRX, OPHN1, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, B3GLCT, AKR1C2, DYNC2H1, DHH, ZFPM2, MAP3K1, MAMLD1, AMH, AMHR2 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 Panel GTR000553211 complete gene list HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, AIRE, AR, ARX, CHD7, EIF2B1, LEP, LEPR, PCSK1, SRY, FGFR2, PROP1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, ATRX, CLPP, SOX3, POR, SOX9, NR5A1, HSD17B3, LHX4, LHX3, SRD5A2, CYP19A1, DHH, SEMA3A, WNT4, MAP3K1, NSMF, RSPO1, FIGLA, FSHR, MCM8, BMP15, HFM1, NOBOX, MAMLD1, FSHB, WDR11, TAC3, KISS1, HS6ST1, ZP1, DMRT1, DMRT2, SOHLH1, PRLR, CBX2 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 Panel GTR000553213 complete gene list HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, AIRE, AR, ARX, CFTR, CHD7, LEP, LEPR, PCSK1, SRY, FGFR2, PROP1, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, ATRX, SOX3, POR, SOX9, DNAH1, NR5A1, HSD17B3, LHX4, LHX3, SRD5A2, GATA4, CYP19A1, DHH, SEMA3A, WNT4, MAP3K1, NSMF, RSPO1, MAMLD1, AMH, AMHR2, FSHB, WDR11, TAC3, KISS1, SPATA16, PICK1, AURKC, CATSPER1, HS6ST1, DMRT1, DMRT2, CBX2, NPAS2, SLC26A8, TEX11, GALNTL5 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 Panel GTR000553215 complete gene list HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, AIRE, AR, ARX, CFTR, CHD7, EIF2B1, LEP, LEPR, PCSK1, SRY, FGFR2, PROP1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, ATRX, CLPP, SOX3, POR, SOX9, DNAH1, NR5A1, HSD17B3, LHX4, LHX3, SRD5A2, GATA4, CYP19A1, DHH, SEMA3A, WNT4, MAP3K1, NSMF, RSPO1, FIGLA, FSHR, MCM8, BMP15, HFM1, NOBOX, MAMLD1, AMH, AMHR2, FSHB, WDR11, TAC3, KISS1, SPATA16, PICK1, AURKC, CATSPER1, HS6ST1, ZP1, DMRT1, DMRT2, SOHLH1, PRLR, CBX2, NPAS2, SLC26A8, TEX11, GALNTL5 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 Panel GTR000553216 complete gene list HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, AR, ARX, CHD7, LEP, LEPR, PCSK1, SRY, FGFR2, PROP1, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, ATRX, SOX3, POR, SOX9, NR5A1, HSD17B3, LHX4, LHX3, SRD5A2, GATA4, CYP19A1, DHH, SEMA3A, WNT4, MAP3K1, NSMF, RSPO1, MAMLD1, AMH, AMHR2, FSHB, WDR11, TAC3, KISS1, HS6ST1, DMRT1, DMRT2, CBX2 Specificity 2 % Genes 50 % Compare panel coverage
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 Panel GTR000552858 complete gene list STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1, HSD17B3, SRD5A2, B9D1, GATA4, CEP41, TCTN3, AKR1C2, CYP19A1, DYNC2H1, GRIP1, FREM2, HOXA13, DHH, ROR2, WNT4, TSPYL1, ZFPM2, MAP3K1, RSPO1, FRAS1, NEK1, WDR60, MAMLD1, AMH, AMHR2, NR3C1, DMRT1, CBX2 Specificity 3 % Genes 50 % Compare panel coverage
HSD17B3. By Fulgent Genetics Fulgent Genetics in United States. HSD17B3 Specificity 100 % Genes 50 % Compare panel coverage
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 Panel GTR000552632 complete gene list STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, CYP21A2, ATRX, ERCC3, POR, SOX9, NR5A1, HSD17B3, SRD5A2, GATA4, CEP41, CYP19A1, DYNC2H1, IL17RD, DHH, ZFPM2, MAP3K1, RSPO1, FRAS1, IRF6, MAMLD1, AMH, AMHR2, MKRN3 Specificity 3 % Genes 50 % Compare panel coverage
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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