Overview

Disorders/Differences of Sex Development (DSD)

Disorders/Differences of Sex Development (DSD) are conditions where the development of chromosomal, anatomical or gonadal sex is atypical. DSD covers a wide spectrum of disorders such as hypospadias (misplacement of the urethral opening on the penis), premature ovarian insufficiency and complete sex reversal (where the physical sex does not match the genetic sex of an individual).

DSD cases are surprisingly common, with a frequency of 1 in 4,500 births. The underlying cause of many DSD cases is the failure of genes responsible for the proper development of the reproductive organs during foetal development. Unfortunately, the underlying genetic cause of around 70% of DSD cases is unknown.

Optional research testing: Should the results of the panel testing be negative, there is an option for patients to be included in further testing via participation in research through Professor Andrew Sinclair’s group at Murdoch Children’s Research Institute. Participation in this study will allow the research group to continue to search for the genetic cause of DSD if the clinical test is negative.

Please contact Katie Ayers on [email protected] or +61 3 9345 4357 for more details regarding the research including information and consent forms.

What is this test?

The VCGS DSD diagnostic gene panel will identify mutations in 68 genes known to cause DSD.

The genes are: AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARX, ATF3, ATRX, BMP15, CDKN1C, CHD7, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR7, DHH, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, FSHR, GATA4, GNRH1, GNRHR, HESX1, HS6ST1, HSD11B1, HSD17B3, HSD17B4, HSD3B2, IL17RD, INSL3, KISS1R, LEP, LEPR, LHB, LHCGR, LHX3, MAMLD1, MAP3K1, MKKS, NR0B1, NR3C1, NR5A1, PCSK1, POR, PROK2, PROKR2, PROP1, RSPO1, SEMA3A, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TOE1, TSPYL1, WDR11, WNT4, WT1, ZFPM2

Frequently asked questions

How much does DSD testing cost?

$1200

What is the turnaround time for DSD testing?

8-10 weeks

What are the specimen requirements?

  1. Test request/payment authorisation form
  2. DSD Phenotype checklist-> detailed phenotype information is necessary to assist with prioritisation of genetic variants of interest for curation
  3. 2-4ml EDTA blood sample (or appropriately stored DNA extracted from EDTA blood)