46,xy Disorder Of Sex Development Due To 5-alpha-reductase 2 Deficiency

Table of contents:

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

Description

46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.

Genes related to 46,xy Disorder Of Sex Development Due To 5-alpha-reductase 2 Deficiency

SRD5A2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to 46,xy Disorder Of Sex Development Due To 5-alpha-reductase 2 Deficiency

Cryptorchidism
Hypoplasia of penis
Ambiguous genitalia
Scrotal hypoplasia
Bifid scrotum
Decreased fertility
Abnormality of the endocrine system
Perineal hypospadias
Ambiguous genitalia, male
Urogenital sinus anomaly

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 Disorder Of Sex Development Due To 5-alpha-reductase 2 Deficiency Is also known as steroid 5-alpha-reductase deficiency, pseudovaginal perineoscrotal hypospadias, 46,xy dsd due to 5-alpha-reductase 2 deficiency.

Researches and researchers

Doctors, researchs, and experts related to 46,xy Disorder Of Sex Development Due To 5-alpha-reductase 2 Deficiency extracted from public data.

46,xy Disorder Of Sex Development Due To 5-alpha-reductase 2 Deficiency Experts map

Current Researchs and researchers

PARIS — Dr Ken MCELREAVEY
Investigator of research project - Coordinator of research network
- Institution/s:
  — Département de Biologie du développement et cellules souches, Institut Pasteur
- Research area/topic::
  Réseau national d'étude du pseudohermaphrodisme masculin et autres troubles de développement sexuel

NEW YORK — Dr Maria I NEW
Manager of registry - Coordinator of research network
- Institution/s:
  — The Mount Sinai School of Medicine
- Research area/topic::
  RGSDC: Rare Genetic Steroid Disorders Consortium

46,xy Disorder Of Sex Development Due To 5-alpha-reductase 2 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Steroid 5-Alpha-Reductase Deficiency. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). SRD5A2 Specificity 100 % Genes 100 %
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 2 % Genes 100 %
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 4 % Genes 100 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...) View the complete list with 41 more genes Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Specificity 2 % Genes 100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication 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 4 % Genes 100 %
SRD5A2 Gene Sequencing. By GeneDx (United States). SRD5A2 Specificity 100 % Genes 100 %
Prenatal SRD5A2 Gene Sequencing. By GeneDx (United States). SRD5A2 Specificity 100 % Genes 100 %
SRD5A2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SRD5A2 Specificity 100 % Genes 100 %

You can get up to 20 more panels with our dedicated tool

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 NEU-LAXOVA SYNDROME 2; NLS2 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 TRICHOHEPATOENTERIC SYNDROME 1; THES1