ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet Diabetes Endocrinol. 2019, Jul; 7: 560–74. doi: https://www.ncbi.nlm.nih.gov/pubmed/30803928

This review provides a step-by-step approach for establishing the diagnosis in a newborn child with ambiguous genitalia. It compiles all recommended investigations in an excellent algorithm that comprises all established and emerging diagnostic tools, and puts them into the context of current knowledge and controversies.

It is crucial that clinicians follow a systematic decision-making path for the workup of patients with DSD that will currently lead to a precise diagnosis in about 50% of cases. An exact diagnosis is essential for the prediction of therapeutic and psychosocial consequences. It also informs communication between patients, parents, health care professionals from various disciplines as well as DSD researchers (1). DSD care has greatly improved in the past 15 years through the introduction of a clear, systematic nomenclature for DSD based on genetics, through collection of patient data in large registries (for research), and through the collaboration of DSD health professionals, researchers and DSD advocacy groups in international networks (1). Common diagnostic strategies for the newborn with ambiguous genitalia allow the DSD community to join efforts towards solving remaining research questions and to address ongoing controversies (2), e.g. about sex assignment and surgery, as mentioned in this review by Leon et al. It also enables quality control and will thereby improve the standards of DSD care, hopefully worldwide. The I-DSD registry ( https://home.i-dsd.org/) is a helpful tool to systematically collect data. Its 2020 revision includes not only basic data of DSD patients (as comprised in the suggested diagnostic algorithm), but also longitudinal data that are will importantly inform lifelong holistic care of DSD patients beyond the newborn period (3, 4).

References:

1. Caring for individuals with a difference of sex development (DSD): a Consensus Statement.  Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, Köhler B, Berra M, Springer A, Schweizer K, Pasterski V; COST Action BM1303 working group 1. Nat Rev Endocrinol. 2018 Jul;14(7):415–429. doi: 10.1038/s41574-018-0010-8. PMID: 29769693.

2. Addressing gaps in care of people with conditions affecting sex development and maturation. Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy SA, Kulle A, Ahmed SF, Dessens A, Balsamo A, Maghnie M, Bonomi M, Dattani M, Persani L, Audi L, DSDnet CA, Gn RHNawatERNfREC. Nat Rev Endocrinol. 2019, Oct; 15: 615–22; DOI 10.1038/s41574-019-0238-y, PMID 31406344. https://www.ncbi.nlm.nih.gov/pubmed/31406344.

3. Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. Flück C, Nordenström A, Ahmed SF, Ali SR, Berra M, Hall J, Köhler B, Pasterski V, Robeva R, Schweizer K, Springer A, Westerveld P, Hiort O, Cools M. Eur J Endocrinol. 2019, Nov; 181: 545–64; DOI 10.1530/eje-19-0363, PMID 31539875. https://eje.bioscientifica.com/downloadpdf/journals/eje/181/5/EJE-19-0363.pdf.

4. The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development. Ali SR, Lucas-Herald A, Bryce J, Ahmed SF. Int J Mol Sci. 2019, Sep 7; 20; DOI 10.3390/ijms20184405, PMID 31500256. https://www.ncbi.nlm.nih.gov/pubmed/31500256