Abstract Disorder of sexual development or disorder of sex differentiation (DSD) refers to the inconsistency between karyotype and gonad phenotype and/or gonad anatomy in neonates and is manifested as the difficulty in identifying neonates' sex. According to the karyotype, DSD is classified as 46,XY DSD, 46,XX DSD, and sex chromosome DSD. A combination of detailed medical history, physical examination, and laboratory and imaging examinations is required for the diagnosis and comprehensive assessment of neonatal DSD and the determination of potential causes in clinical practice. Sex identification can only be made after all diagnostic evaluations have been completed. Sex identification of DSD neonates is influenced by various medical and social factors, including genotype (karyotype), sex hormones (levels of testosterone, dihydrotestosterone, and adrenal steroids), sex phenotype (appearance of internal and external genitals), reproduction (fertility potential), feelings of their parents, and even social acceptance and religious customs. A team with multidisciplinary cooperation is required, and patients must be involved in the whole process of sex identification. The major task of neonatal physicians for DSD is to assess the condition of neonates and provide management.
Crissman HP, Warner L, Gardner M, et al. Children with disorders of sex development:A qualitative study of early parental experience[J]. Int J Pediatr Endocrinol, 2011, 2011(1):10.
[2]
Rothkopf AC, John RM. Understanding disorders of sexual development[J]. J Pediatr Nurs, 2014, 29(5):e23-e34.
[3]
McCann-Crosby B, Sutton VR. Disorders of sexual development[J]. Clin Perinatol, 2015, 42(2):395-412.
[4]
Michala L, Liao LM, Wood D, et al. Practice changes in childhood surgery for ambiguous genitalia?[J]. J Pediatr Urol, 2014, 10(5):934-939.
[5]
Wherrett DK. Approach to the infant with a suspected disorder of sex development[J]. Pediatr Clin North Am, 2015, 62(4):983-999.
[6]
Sax L. How common is intersex? A response to Anne Fausto-Sterling[J]. J Sex Res, 2002, 39(3):174-178.
[7]
Thyen U, Lanz K, Holterhus PM, et al. Epidemiology and initial management of ambiguous genitalia at birth in Germany[J]. Horm Res, 2006, 66(4):195-203.
[8]
Ahmed SF, Achermann JC, Arlt W, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development(revised2015)[J]. Clin Endocrinol(Oxf), 2016, 84(5):771-788.
[9]
Telles-Silveira M, Knobloch F, Kater CE. Development of a strategy of physician-patient relationship for improving care for patients with disorders of sex development:a qualitative study[J]. Sao Paulo Med J, 2016, 134(4):300-305.
[10]
Fisher AD, Ristori J, Fanni E, et al. Gender identity, gender assignment and reassignment in individuals with disorders of sex development:a major of dilemma[J]. J Endocrinol Invest, 2016, 10:1-18.
[11]
Davies K. Disorders of sex development-ambiguous genitalia[J]. J Pediatr Nurs, 2016, 31(4):463-466.
[12]
Hughes IA. Consequences of the Chicago DSD Consensus:a personal perspective[J]. Horm Metab Res, 2015, 47(5):394-400.
[13]
McCann-Crosby B, Sutton VR. Disorders of sexual development[J]. Clin Perinatol, 2015, 42(2):395-412, ix-x.
[14]
Krishnan S, Wisniewski AB. Ambiguous genitalia in the newborn[M]//De Groot LJ, Beck-Peccoz P, Chrousos G, et al. Endotext. South Dartmouth (MA):MDText.com.Inc, 2015:29.
[15]
Ostrer H. Disorders of sex development (DSDs):an update[J]. J Clin Endocrinol Metab, 2014, 99(5):1503-1509.
[16]
Biason-Lauber A. The Battle of the sexes:human sex development and its disorders[J]. Results Probl Cell Differ, 2016, 58:337-382.
Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex[J]. Pediatrics, 2006, 118(2):e488-e500.
Holmes NM, Miller WL, Baskin LS. Lack of defects in androgen production in children with hypospadias[J]. J Clin Endocrinol Metab, 2004, 89(6):2811-2816.
[21]
Karen LS, Maria N. Ambiguous genitalia in the newborn[M]//Gleason CA, Devaskar SU. Avery's Diseases of the Newborn. 9th ed. Philadelphia:W. B. Saunders Company, 2012:1286-1306.
MacGillivray MH, Morishima A, Conte F, et al. Pediatric endocrinology update:an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover:lessons from mutations in the genes for aromatase and the estrogen receptor[J]. Horm Res, 1998, 49(Suppl 1):2-8.
[24]
Feldman KW, Smith DW. Fetal phallic growth and penile standards for newborn male infants[J]. J Pediatr, 1975, 86(3):395-398.
[25]
Paris F, Gaspari L, Philibert P, et al. Disorders of sex development:neonatal diagnosis and management[J]. Endocr Dev, 2012, 22:56-71.
[26]
Moshiri M, Chapman T, Fechner PY, et al. Evaluation and management of disorders of sex development:multidisciplinary approach to a complex diagnosis[J]. Radiographics, 2012, 32(6): 1599-1618.
[27]
Agramunt S, Kogevinas M, Carreras R. Anogenital distance in newborns:a sensitive marker of prenatal hormonal disruption[J]. Med Clin (Barc), 2011, 137(10):459-463.
[28]
Weiss B. Anogenital distance:defining "normal"[J]. Environ Health Perspect, 2006, 114(7):399.
[29]
Barbaro M, Wedell A, Nordenstrom A. Disorders of sex development[J]. Semin Fetal Neonatal Med, 2011, 16(2):119-127.
[30]
Faisal AS, Achermann JC, Arlt W, et al. UK Guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development[J]. Clin Endocrinol(Oxf), 2011, 75(1):12-26.
[31]
Forest MG, Sizonenko PC, Cathiard AM, et al. Hypophyso-gonadal function in humans during the first year of life. 1. Evidence for testicular activity in early infancy[J]. J Clin Invest, 1974, 53(3):819-828.
[32]
Hiort O, Birnbaum W, Marshall L, et al. Management of disorders of sex development[J]. Nat Rev Endocrinol, 2014, 10(9):520-529.
[33]
Fagerholm R, Santtila P, Miettinen PJ, et al. Sexual function and attitudes toward surgery after feminizing genitoplasty[J]. J Urol, 2011, 185(5):1900-1904.
[34]
Kim KS, Kim J. Disorders of sex development[J]. Korean J Urol, 2012, 53(1):1-8.
[35]
Mazur T. Gender dysphoria and gender change in androgen insensitivity or micropenis[J]. Arch Sex Behav, 2005, 34(4):411-421.
[36]
Meyer-BahlburgHF. Gender identity outcome in female-raised 46, XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation[J]. Arch Sex Behav, 2005, 34(4):423-438.
[37]
Telles-Silveira M, Knobloch F, Kater CE. Management framework paradigms for disorders of sex development[J]. Arch Endocrinol Metab, 2015, 59(5):383-390.
[38]
Achermann JC, Domenice S, Bachega TA, et al. Disorders of sex development:effect of molecular diagnostics[J]. Nat Rev Endocrinol, 2015, 11(8):478-488.
[40]
Ahmed SF, Bashamboo A, Lucas-Herald A, et al. Understanding the genetic aetiology in patients with XY DSD[J]. Br Med Bull, 2013, 106:67-89.
[40]
Meyer-Bahlburg HF, Migeon CJ, Berkovitz GD, et al. Attitudes of adult 46,XY intersex persons to clinical management policies[J]. J Urol, 2004, 171(4):1615-1619.
[41]
Sandberg DE, Callens N, Wisniewski AB. Disorders of sex development (DSD):networking and standardization considerations[J]. Horm Metab Res, 2015, 47(5):387-393.
