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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Pediatric Urology · Posterior Hypospadias

The Diagnostic Journey: Why DSD Testing Matters

At a Glance

Children with severe or posterior hypospadias often undergo a Differences in Sex Development (DSD) workup to check for underlying genetic or hormonal factors. These tests help specialists create a safe, personalized surgical and long-term care plan for the child.

When a child is diagnosed with posterior hypospadias, doctors often recommend a more detailed evaluation called a DSD workup (Differences in Sex Development) [1]. While this might sound alarming, the goal is to get a complete picture of your child’s health to ensure the best long-term care [2].

Why the Extra Tests?

Even if the hypospadias seems like an isolated (non-syndromic) issue, research shows that a small percentage of children with the most severe forms of hypospadias have underlying genetic or hormonal differences that aren’t immediately visible [3][4].

Certain physical signs often prompt this workup [1][5]:

  • Undescended Testes: One or both testicles are not felt in the scrotum [5].
  • Micropenis: The penis is smaller than the typical range for a newborn [1].
  • Bifid Scrotum: The scrotum is split into two distinct halves [1].

Genetic Testing: A Closer Look

Doctors use several tools to look at your child’s “biological blueprint” [6]:

  • Karyotype: This is a “bird’s-eye view” of the chromosomes. It checks the number and overall structure of the chromosomes (for example, confirming if they are 46,XY) [6][7].
  • Chromosomal Microarray (CMA): Think of this as a high-powered microscope. It looks for tiny, “hidden” missing or extra pieces of genetic material that a standard karyotype might miss [8][9].
  • Gene Panels: These look at specific genes known to influence genital development, such as SRD5A2 (which helps the body use testosterone) or AR (the androgen receptor) [10][11].

The Importance of Early Detection: The WT1 Gene

One specific gene doctors often check is called WT1 [3]. While rare, variants in this gene can be associated with severe hypospadias and carry a risk for Wilms tumor, a type of childhood kidney cancer [4][12]. It is important to remember that these mutations are exceedingly rare, especially when the hypospadias is confirmed to be isolated (non-syndromic) [13]. However, knowing about a WT1 variant early allows doctors to start proactive screening (like regular ultrasounds) out of an abundance of caution [14][15].

The Endocrine Evaluation

A pediatric endocrinologist (a hormone specialist) may also join the team [16]. They check the levels of hormones like testosterone and AMH (Anti-Müllerian Hormone) to see how well the testes are functioning [16][17]. In some cases, they may prescribe hormone treatments before surgery to help the penis grow, which can make the surgical repair easier [18][19].

Getting these answers early helps your medical team create a personalized roadmap for your child’s surgery and long-term health [2][3].

Common questions in this guide

Why does my child need a DSD workup for hypospadias?
A DSD (Differences in Sex Development) workup is recommended for severe hypospadias to check for underlying genetic or hormonal differences. This testing provides doctors with a complete picture of your child's health to ensure the safest long-term care and surgical planning.
What physical signs prompt doctors to order genetic testing for hypospadias?
Doctors often recommend genetic testing if a child with hypospadias also has undescended testicles, a smaller-than-typical penis (micropenis), or a scrotum that is split into two distinct halves (bifid scrotum).
What genetic tests are used to evaluate posterior hypospadias?
Doctors typically use a karyotype to look at overall chromosome structure, a chromosomal microarray to find tiny missing or extra genetic pieces, and gene panels to examine specific genes that influence genital development.
Why do doctors test the WT1 gene?
The WT1 gene is tested because certain rare variants are associated with severe hypospadias and an increased risk for Wilms tumor, a type of childhood kidney cancer. If a variant is found, doctors can start proactive screening like regular ultrasounds out of an abundance of caution.
What is the role of a pediatric endocrinologist in treating hypospadias?
A pediatric endocrinologist checks hormone levels like testosterone to see how well the testes are functioning. They may also prescribe hormone treatments before surgery to help the penis grow, making the surgical repair easier and more successful.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What specific physical findings (like undescended testes or bifid scrotum) made you recommend a DSD workup?
  2. 2.If my child’s genetic tests show a WT1 variant, what is the specific screening schedule for Wilms tumor?
  3. 3.Will we be seeing a pediatric endocrinologist as part of this process, and what hormonal tests will they perform?
  4. 4.How long does it typically take to get the results back for a chromosomal microarray or gene panel?
  5. 5.If the tests come back 'normal' but the hypospadias is still severe, what does that mean for our next steps?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (19)
  1. 1

    Incidence and diagnoses of disorders of sex development in proximal hypospadias.

    Wong YS, Tam YH, Pang KKY, Yau HC

    Journal of pediatric surgery 2018; (53(12)):2498-2501 doi:10.1016/j.jpedsurg.2018.08.010.

    PMID: 30224237
  2. 2

    Utility of genetic work-up for 46, XY patients with severe hypospadias.

    Srivastava P, Tenney J, Lodish M, et al.

    Journal of pediatric urology 2023; (19(3)):261-272 doi:10.1016/j.jpurol.2022.11.023.

    PMID: 36496321
  3. 3

    Yield of modern genetic evaluation for patients with proximal hypospadias and descended gonads.

    Rowe CK, Adam MP, Ahn JJ, et al.

    Journal of pediatric urology 2019; (15(5)):527.e1-527.e6 doi:10.1016/j.jpurol.2019.07.017.

    PMID: 31537436
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    Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered?

    Dabrowski E, Armstrong AE, Leeth E, et al.

    Pediatrics 2018; (141(Suppl 5)):S491-S495 doi:10.1542/peds.2017-0230.

    PMID: 29610178
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    Prevalence of disorders of sex development in patients with hypospadias and cryptorchidism.

    Lavoie C, Chun B, Au M, et al.

    Journal of pediatric urology 2025; (21(1)):71-77 doi:10.1016/j.jpurol.2024.09.017.

    PMID: 39370332
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    45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report.

    Kawabe Y, Yamaguchi M, Miyagaki S, et al.

    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020; (29(4)):189-193 doi:10.1297/cpe.29.189.

    PMID: 33088019
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    Male refractory hypospadias with sexual reversal: a case report.

    Zhao J, Chen G, Chen J, Qian L

    Journal of medical case reports 2023; (17(1)):494 doi:10.1186/s13256-023-04230-3.

    PMID: 38012693
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    Advanced maternal age: copy number variations and pregnancy outcomes.

    Cao L, Dong W, Wu Q, et al.

    Frontiers in genetics 2023; (14()):1206855 doi:10.3389/fgene.2023.1206855.

    PMID: 37396033
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    Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception.

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    Journal of the Chinese Medical Association : JCMA 2015; (78(7)):408-13.

    PMID: 26004737
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    Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.

    Yuan S, Meng L, Zhang Y, et al.

    Steroids 2017; (125()):61-66 doi:10.1016/j.steroids.2017.06.010.

    PMID: 28663096
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    Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development.

    Guo Q, Zhong WW, Lai HJ, et al.

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    New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report.

    Akramov NR, Shavaliev RF, Osipova IV

    Medicine 2021; (100(19)):e25864 doi:10.1097/MD.0000000000025864.

    PMID: 34106634
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    Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

    Leitao Braga B, Lisboa Gomes N, Nishi MY, et al.

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    Spectrum of Clinical Manifestations in Children With WT1 Mutation: Case Series and Literature Review.

    Arroyo-Parejo Drayer P, Seeherunvong W, Katsoufis CP, et al.

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    Wilms Tumor, Version 2.2025, NCCN Clinical Practice Guidelines In Oncology.

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    Proximal Hypospadias-Isolated Genital Condition or Marker of More?

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    The Journal of urology 2020; (204(2)):345-352 doi:10.1097/JU.0000000000000810.

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    Application of glanular decompression and expansion surgery in proximal hypospadias with hypoplastic glans penis.

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    Preliminary Experience with Transdermal Preoperative Hormonal Treatment Before Severe Hypospadias Repair: Synergy Between Pediatric Surgeons and Endocrinologists.

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This page explains DSD testing for posterior hypospadias for educational purposes only. Always consult your pediatric urologist or endocrinologist to discuss your child's specific medical needs and test results.

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