Review Article| Volume 49, ISSUE 1, P207-218, March 2022

Differences of Sex Development

What Neonatologists Need to Know


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        • Lee P.A.
        • Houk C.P.
        • Ahmed S.F.
        • et al.
        • Endocrinology ICCoIobtLWPESatESfP
        Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.
        Pediatrics. 2006; 118: e488-e500
        • Lee P.A.
        • Nordenström A.
        • Houk C.P.
        • et al.
        Global disorders of sex development update since 2006: perceptions, approach and care.
        Horm Res Paediatr. 2016; 85: 158-180
        • Lee P.A.
        • Wisniewski A.
        • Baskin L.
        • et al.
        Advances in diagnosis and care of persons with DSD over the last decade.
        Int J Pediatr Endocrinol. 2014;
        • Ernst M.M.
        • Gardner M.
        • Mara C.A.
        • et al.
        The DSD-Translational Research Network Leadership Group and Psychosocial Workgroup. Psychosocial screening in disorders/differences of sex development: Psychometric evaluation of the psychosocial assessment tool.
        Horm Res Paediatr. 2018; 90: 368-380
        • Parivesh A.
        • Barseghyan H.
        • Délot E.
        • et al.
        Translating genomics to the clinical diagnosis of disorders/differences of sex development.
        Curr Top Dev Biol. 2019; 134: 317-375
        • Bennecke E.
        • Köhler B.
        • Röhle R.
        • et al.
        Disorders or differences of sex development? Views of affected individuals on DSD terminology.
        J Sex Res. 2021; 58: 522-531
        • Health VGDo. Victorian Department of Health
        Decision-making principles for the care of infants, children and adolescents with intersex conditions.
        Victorian Government Department of Health, Melbourne, Australia2013 (Available at:)
        • Wiesemann C.
        • Ude-Koeller S.
        • Sinnecker G.H.
        • 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
        • Byne W.
        • Karasic D.H.
        • Coleman E.
        • et al.
        Assessment and treatment of gender dysphoria and gender variant patients: a primer for Psychiatrists.
        Am J Psychiatry. 2018; 175: 1046
      1. Steve J. Langdon. Native People of Alaska, Traditional Living in a Northern Land, 5th Edition. Anchorage January 1, 2013.

        • Almasri J.
        • Zaiem F.
        • Rodriguez-Gutierrez R.
        • et al.
        Genital reconstructive surgery in females with congenital adrenal hyperplasia: a systematic review and meta-analysis.
        J Clin Endocrinol Metab. 2018; 103: 4089-4096
        • Daae E.
        • Feragen K.B.
        • Waehre A.
        • et al.
        Sexual orientation in individuals with congenital adrenal hyperplasia: a systematic review.
        Front Behav Neurosci. 2020; 14: 38
        • Capel B.
        Sex in the 90s: SRY and the switch to the male pathway.
        Annu Rev Physiol. 1998; 60: 497-523
        • Bernard P.
        • Ryan J.
        • Sim H.
        • et al.
        Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer.
        Endocrinology. 2012; 153: 901-912
        • Kamrath C.
        • Hochberg Z.
        • Hartmann M.F.
        • 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
        • Castets S.
        • Nguyen K.A.
        • Plaisant F.
        • et al.
        Reference values for the external genitalia of full-term and pre-term female neonates.
        Arch Dis Child Fetal Neonatal Ed. 2021; 106: 39-44
        • Yatsenko S.A.
        • Witchel S.F.
        Genetic approach to ambiguous genitalia and disorders of sex development: what clinicians need to know.
        Semin Perinatol. 2017; 41: 232-243
        • Khattab A.
        • Yuen T.
        • Al-Malki S.
        • et al.
        A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
        Ann N Y Acad Sci. 2016; 1364: 5-10
        • Bangalore Krishna K.
        • Kogan B.A.
        • Ernst M.M.
        • et al.
        Individualized care for patients with intersex (disorders/differences of sex development): Part 3.
        J Pediatr Urol. 2020; 16: 598-605
        • Schober J.
        • Cooney T.
        • Pfaff D.
        • et al.
        Innervation of the labia minora of prepubertal girls.
        J Pediatr Adolesc Gynecol. 2010; 23: 352-357
        • Strandqvist A.
        • Falhammar H.
        • Lichtenstein P.
        • et al.
        Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden.
        J Clin Endocrinol Metab. 2014; 99: 1425-1432
        • Sturm R.M.
        • Durbin-Johnson B.
        • Kurzrock E.A.
        Congenital adrenal hyperplasia: current surgical management at academic medical centers in the United States.
        J Urol. 2015; 193: 1796-1801
        • van der Zwan Y.G.
        • Callens N.
        • van Kuppenveld J.
        • et al.
        DSD DSGo. Long-term outcomes in males with disorders of sex development.
        J Urol. 2013; 190: 1038-1042
        • Örtqvist L.
        • Fossum M.
        • Andersson M.
        • et al.
        Long-term followup of men born with hypospadias: urological and cosmetic results.
        J Urol. 2015; 193: 975-981
        • Frisén L.
        • Nordenström A.
        • Falhammar H.
        • et al.
        Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
        J Clin Endocrinol Metab. 2009; 94: 3432-3439