Patients with disorders of sex development
2
조회
0
다운로드
2
인용
0
참고문헌
키워드
초록
Disorders of sex development (DSDs) are a genetically and clinically heterogeneous group of congenital conditions of the urogenital tract and reproductive system. Time and spatially controlled transcription factors, signal molecules, and an array of different hormones are involved in the development of sex characteristics, and variations in their pathways and actions are associated with DSD. These conditions may be caused by numerical or structural variations in sex chromosomes as well as autosomes, variations in genes involved in gonadal and/or genital development, and changes in gonadal and/or adrenal steroidogenesis. Endogenous or exogenous (maternal) and possibly endocrine disruptors may also interfere with genital development.
Abstract
Disorders of sex development (DSDs) are a genetically and clinically heterogeneous group of congenital conditions of the urogenital tract and reproductive system. Time and spatially controlled transcription factors, signal molecules, and an array of different hormones are involved in the development of sex characteristics, and variations in their pathways and actions are associated with DSD. These conditions may be caused by numerical or structural variations in sex chromosomes as well as autosomes, variations in genes involved in gonadal and/or genital development, and changes in gonadal and/or adrenal steroidogenesis. Endogenous or exogenous (maternal) and possibly endocrine disruptors may also interfere with genital development.
참고문헌 (24)
- León NY, "A clinical algorithm to diagnose differences of sex development", Lancet Diabetes Endocrinol, 7, pp.560~574 (2019)
- Thyen U, "Epidemiology and initial management of ambiguous genitalia at birth in Germany", Horm Res, 66, pp.195~203 (2006)
- Ahmed SF, "Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development(Revised 2015)", Clin Endocrinol(Oxf), 84, pp.771~788 (2016)
- Bashamboo A, "Gene mutations associated with anomalies of human gonad formation", Sex Dev, 7, pp.126~146 (2013)
- Hiort O, "Understanding differences and disorders of sex development (DSD)", pp.294~300 (2014), Karger
- Cools M, "Caring for individuals with a difference of sex development(DSD) : a consensus statement", Nat Rev Endocrinol, 14, pp.415~429 (2018)
- Wherrett DK, "Approach to the infant with a suspected disorder of sex development", Pediatr Clin North Am, 62, pp.983~999 (2015)
- Kolesinska Z, "Integrating clinical and genetic approaches in the diagnosis of 46, XY disorders of sex development", Endocr Connect, 7, pp.1480~1490 (2018)
- Wright CF, "Paediatric genomics : diagnosing rare disease in children", Nat Rev Genet, 19, pp.253~268 (2018)
- Doehnert U, "Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome", Sex Dev, 9, pp.69~74 (2015)
- Diamond DA, "Comparative assessment of pediatric testicular volume : orchidometer versus ultrasound", J Urol, 164(3 Pt 2), pp.1111~1114 (2000)
- Thankamony A, "Anogenital distance and penile length in infants with hypospadias or cryptorchidism : comparison with normative data", Environ Health Perspect, 122, pp.207~211 (2014)
- Hua XG, "Associations between hypospadias, cryptorchidism and anogenital distance : systematic review and meta-analysis", Andrologia, 50, pp.e13152~ (2018)
- Khattab A, "Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency", Proc Natl Acad Sci U S A, 114, pp.E1933~E1940 (2017)
- Kulle A, "Steroid hormone analysis in diagnosis and treatment of DSD : position paper of EU COST Action BM 1303 'DSDnet'", Eur J Endocrinol, 176, pp.P1~P9 (2017)
- Santos XM, "The utility of ultrasound and magnetic resonance imaging versus surgery for the characterization of mullerian anomalies in the pediatric and adolescent population", J Pediatr Adolesc Gynecol, 25, pp.181~184 (2012)
- Hiort O, "Pubertal development in 17betahydroxysteroid dehydrogenase type 3 deficiency", Horm Res Paediatr, 87, pp.354~358 (2017)
- Hiort O, "Management of disorders of sex development", Nat Rev Endocrinol, 10, pp.520~529 (2014)
- Davies JH, "Recognition and assessment of atypical and ambiguous genitalia in the newborn", Arch Dis Child, 102, pp.968~974 (2017)
- Sandberg DE, "Introduction to the special section : disorders of sex development", J Pediatr Psychol, 42, pp.487~495 (2017)
- Grimbizis GF, "The Thessaloniki ESHRE", ESGE consensus on diagnosis of female genital anomalies, 2016, pp.13, 1~16
- Fan Y, "Diagnostic application of targeted next-generation sequencing of 80 genes associated with disorders of sexual development", Sci Rep, 7, pp.44536~ (2017)
- Audi L, "Genetics in endocrinology : approaches to molecular genetic diagnosis in the management of differences", disorders of sex development(DSD) : position paper of EU COST Action BM 1303 ‘DSDnet’, 2018, pp.179, R197~R206
- Joseph AA, "Gender issues and related social stigma affecting patients with a disorder of sex development in India", Arch Sex Behav, 46, pp.361~367 (2017)