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

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.

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



Mendelian

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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
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
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
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
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 %

We have 20 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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