# Disorders/Differences of Sex Development (DSD) - Translational Research Network

> **NIH NIH R01** · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2022 · $713,249

## Abstract

PROJECT SUMMARY
Disorders/Differences of Sex Development (DSD) is an umbrella term covering congenital conditions in which
chromosomal, gonadal, or anatomic sex development is atypical. DSD are phenotypically heterogeneous,
ranging from genital malformations (hypospadias, cryptorchidism, clitoral hypertrophy) to genital ambiguity.
DSD have a collective incidence of about 1% and can result in serious consequences for fertility, cancer risk
and quality of life across the lifespan. Debate over clinical management, in particular gender assignment and
genital or gonadal surgery, has intensified; yet scientific data informing best practices remain limited. Clinical
care in DSD is hampered by a fragmented research agenda and lack of standardization, leaving fundamental
gaps in knowledge of DSD pathology and links between treatment options and desired outcomes. Major
obstacles include gaps in understanding of pathophysiology (impeding precise diagnostic categorization), the
absence of prospective longitudinal studies of psychosocial outcomes, and the potential moderating influence
of biomedical, psychosocial and legal factors on medical decision making.
This project is the first of its kind, globally, to prospectively study the variable pathways from DSD diagnosis
and clinical management to psychosocial adaptation. This goal will be accomplished by exploiting the
infrastructure and robust collaboration of the DSD–Translational Research Network (DSD-TRN). The Network
comprises a consortium of 12 interdisciplinary healthcare teams across the nation in conjunction with patient
stakeholder and bioethics representation.
Our guiding principle is that evidence-based standardization of diagnostic and treatment protocols will be
associated with higher rates of definitively diagnosed DSD, reduced variation in clinical practice, enhanced
patient/family healthcare-related experiences, and improved psychosocial outcomes for patients and their
families. The proposed project will deliver evidence needed to raise the quality of healthcare in DSD to levels
observed for other rare diseases. Specific aims include:
 1. Genetics. Improving and expanding the molecular diagnosis of DSD;
 2. Psychosocial. Identifying diagnostic, clinical care, and family risk and resilience factors associated with
 variability in psychological outcomes of patients with DSD and their families;
 3. Determinants of clinical management. Identifying biomedical, legal, and psychosocial determinants of
 clinical management decisions.

## Key facts

- **NIH application ID:** 10379331
- **Project number:** 5R01HD093450-05
- **Recipient organization:** UNIVERSITY OF MICHIGAN AT ANN ARBOR
- **Principal Investigator:** DAVID Eric SANDBERG
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $713,249
- **Award type:** 5
- **Project period:** 2018-07-15 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10379331

## Citation

> US National Institutes of Health, RePORTER application 10379331, Disorders/Differences of Sex Development (DSD) - Translational Research Network (5R01HD093450-05). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10379331. Licensed CC0.

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