Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12098-024-05144-8.pdf
Reference30 articles.
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2. Délot EC, Vilain E. Towards improved genetic diagnosis of human differences of sex development. Nat Rev Genet. 2021;22:588–602.
3. Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket A. AR and SRD5A2 gene mutations in a series of 51 Turkish 46, XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology. 2014;2:572–8.
4. Lee YS, Kirk JMW, Stanhope RG, et al. Phenotypic variability in 17β-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol. 2007;67:20–8.
5. Hughes LA, McKay-Bounford K, Webb EA, et al. Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). Endocr Connect. 2019;8:100–10.
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