Urologie Scan, Table of Contents Urologie Scan 2016; 03(02): 147-161DOI: 10.1055/s-0042-107184 Fortbildung Allgemeines © Georg Thieme Verlag KG Stuttgart · New York„DSD“ – Besonderheiten der Geschlechtsentwicklung Authors Olaf Hiort Recommend Article Abstract Buy Article(opens in new window) Full Text References Literatur 1 Hughes IA, Houk C, Ahmed SF et al. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554-563 2 Vilain E, Achermann JC, Eugster EA et al. We used to call them hermaphrodites. Genet Med 2007; 9: 65-66 3 Pasterski V, Prentice P, Hughes IA. Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe. Arch Dis Child 2010; 95: 618-623 4 Bashamboo A, McElreavey K. Gene mutations associated with anomalies of human gonad formation. Sex Dev 2013; 7: 126-146 5 Ledig S, Hiort O, Scherer G et al. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Hum Reprod 2010; 25: 2637-2646 6 Hiort O. The differential role of androgens in early human sex development. BMC Med 2013; 11: 152 7 Money J, Hampson JG, Hampson JL. Hermaphroditism: recommendations concerning assignment of sex, change of sex and psychologic management. Bull Johns Hopkins Hosp 1955; 97: 284-300 8 Diamond M, Sigmundson HK. Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 1997; 151: 1046-1050 9 Moran ME, Karkazis K. Developing a multidisciplinary team for disorders of sex development: planning, implementation, and operation tools for care providers. Adv Urol 2012; 2012: 604135 10 Ahmed SF, Khwaja O, Hughes IA. Clinical features and gender assignment in cases of male undermasculinisation: the role for a masculinisation score. Br J Urol Intern 2000; 85: 120-124 11 Joint LWPES/ESPE CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 2002; 87: 4048-4053 12 Kulle AE, Riepe FG, Melchior D et al. A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data. J Clin Endocrinol Metab 2010; 95: 2399-2409 13 Koal T, Schmiederer D, Pham-Tuan H et al. Standardized LC-MS/MS based steroid hormone profile-analysis. J Steroid Biochem Mol Biol 2012; 129: 129-138 14 Krone N, Hughes BA, Lavery GG et al. Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS). J Steroid Biochem Mol Biol 2010; 121: 496-504 15 Kamrath C, Hochberg Z, Hartmann MF et al. Increased activation of the alternative „backdoor“ pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis. J Clin Endocrinol Metab 2012; 97: E367-E375 16 Josso N, Rey RA, Picard JY. Anti-Mullerian Hormone: A Valuable Addition to the Toolbox of the Pediatric Endocrinologist. Int J Endocrinol 2013; 2013: 674105 17 Kubini K, Zachmann M, Albers N et al. Basal inhibin B and the testosterone response to human chorionic gonadotropin correlate in prepubertal boys. J Clin Endocrinol Metab 2000; 85: 134-138 18 Lindhardt Johansen M, Hagen CP, Raipert-De Meyts E et al. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study. J Clin Endocrinol Metab 2012; 97: E1540-E1549 19 Appari M, Werner R, Wünsch L et al. Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome. J Mol Med (Berl) 2009; 87: 623-632 20 Hiort O, Gillessen-Kaesbachb G. Disorders of sex development in developmental syndromes. Endocr Dev 2009; 14: 174-180 21 Baxter RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet 2013; 14: 371-392 22 Gillam LH, Hewitt JK, Warne GL. Ethical principles for the management of infants with disorders of sex development. Horm Res Paediatr 2010; 74: 412-418 23 Wiesemann C, Ude-Koeller S, Sinnecker GH et al. Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents. Eur J Pediatr 2010; 169: 671-679 24 Thyen U, Richter-Appelt H, Wiesemann C et al. Deciding on gender in children with intersex conditions: considerations and controversies. Treat Endocrinol 2005; 4: 1-8 25 Wunsch L, Holterhus PM, Wessel L et al. Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis. BJU Int 2012; 110: E958-E965 26 Looijenga LH, Van Agthoven T, Biermann K. Development of malignant germ cells – the genvironmental hypothesis. Int J Dev Biol 2013; 57: 241-253 27 Bertelloni S, Dati E, Baroncelli GI. Disorders of sex development: hormonal management in adolescence. Gynecol Endocrinol 2008; 24: 339-346 28 Jurgensen M, Kleinemeier E, Lux A et al. Psychosexual development in children with disorder of sex development (DSD) – results from the German Clinical Evaluation Study. J Pediatr Endocrinol Metab 2010; 23: 565-578 29 Ahmed SF, Rodie M, Jiang J et al. The European disorder of sex development registry: a virtual research environment. Sex Dev 2010; 4: 192-198 30 Holterhus PM, Deppe U, Werner R et al. Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome. BMC Genomics 2007; 8: 376 31 Hiort O, Birnbaum W, Marshall L et al. Management of Disorders of Sex Development. Nat Endocr Rev 2014; 10 : 520-529 32 Barrett ES, Parlett LE, Sathyanarayana S et al. Prenatal exposure to stressful life events is associated with masculinized anogenital distance (AGD) in female infants. Physiol Behav 2013; 10: 14-20 33 Dean A, Sharpe RM. Anogenital Distance or Digit Length Ratio as Measures of Fetal Androgen Exposure: Relationship to Male Reproductive Development and Its Disorders. J Clin Endocrinol Metab 2013; 98: 2230-2238 34 Werner R, Merz H, Birnbaum W et al. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. J Clin Endocrinol Metab 2015; 100: E1022-E1029