Management of the infant with ambiguous genitalia
- Christopher P Houk, MD
Christopher P Houk, MD
- Associate Professor of Pediatrics
- Georgia Regents University
- Lynne L Levitsky, MD
Lynne L Levitsky, MD
- Associate Professor of Pediatrics
- Harvard Medical School
- Section Editors
- Laurence S Baskin, MD, FAAP
Laurence S Baskin, MD, FAAP
- Section Editor — Pediatric Urology
- Frank Hinman, Jr., MD, Distinguished Professorship in Pediatric Urology
- Chief Pediatric Urology
- Professor of Urology and Pediatrics
- UCSF Benioff Children's Hospital
- Mitchell Geffner, MD
Mitchell Geffner, MD
- Section Editor — Pediatric Endocrinology
- Professor of Pediatrics
- Keck School of Medicine, University of Southern California
Individuals with a congenital discrepancy between external genitalia and gonadal and chromosomal sex are classified as having a disorder of sex development (DSD) . Many of these individuals present as newborns with an atypical genital appearance often termed "ambiguous genitalia". The birth of an infant with ambiguous genitalia presents a unique set of challenging management issues.
Psychosexual development is influenced by multiple factors including:
●Genes involved in sexual development
●Gender differences in brain structure
●Prenatal androgen exposure
- Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006; 118:e488.
- Reiner WG. Assignment of sex in neonates with ambiguous genitalia. Curr Opin Pediatr 1999; 11:363.
- Daaboul J, Frader J. Ethics and the management of the patient with intersex: a middle way. J Pediatr Endocrinol Metab 2001; 14:1575.
- Meyer-Bahlburg HF. Gender and sexuality in classic congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001; 30:155.
- Köhler B, Kleinemeier E, Lux A, et al. Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study. J Clin Endocrinol Metab 2012; 97:577.
- Callens N, van der Zwan YG, Drop SL, et al. Do surgical interventions influence psychosexual and cosmetic outcomes in women with disorders of sex development? ISRN Endocrinol 2012; 2012:276742.
- Fagerholm R, Mattila AK, Roine RP, et al. Mental health and quality of life after feminizing genitoplasty. J Pediatr Surg 2012; 47:747.
- Callens N, De Cuypere G, Wolffenbuttel KP, et al. Long-term psychosexual and anatomical outcome after vaginal dilation or vaginoplasty: a comparative study. J Sex Med 2012; 9:1842.
- Speiser PW. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Endocrinol Metab Clin North Am 2001; 30:31.
- Diamond M, Sigmundson HK. Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 1997; 151:1046.
- Douglas G, Axelrad ME, Brandt ML, et al. Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team. Int J Pediatr Endocrinol 2010; 2010:919707.
- Pasterski V, Prentice P, Hughes IA. Impact of the consensus statement and the new DSD classification system. Best Pract Res Clin Endocrinol Metab 2010; 24:187.
- 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.
- Palmer BW, Wisniewski AB, Schaeffer TL, et al. A model of delivering multi-disciplinary care to people with 46 XY DSD. J Pediatr Urol 2012; 8:7.
- Jürgensen 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.
- Hines M. Prenatal testosterone and gender-related behaviour. Eur J Endocrinol 2006; 155 Suppl 1:S115.
- Diamond M, Beh HG. Changes in the management of children with intersex conditions. Nat Clin Pract Endocrinol Metab 2008; 4:4.
- 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.
- Lee MM, Donahoe PK. The infant with ambiguous genitalia. Curr Ther Endocrinol Metab 1997; 6:216.
- Evaluation of the newborn with developmental anomalies of the external genitalia. American Academy of Pediatrics. Committee on Genetics. Pediatrics 2000; 106:138.
- Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med 2004; 350:333.
- Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF, et al. Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab 2000; 85:2664.
- Berenbaum SA, Bailey JM. Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003; 88:1102.
- Creighton SM, Minto CL, Steele SJ. Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood. Lancet 2001; 358:124.
- Minto CL, Liao LM, Woodhouse CR, et al. The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study. Lancet 2003; 361:1252.
- Schnitzer JJ, Donahoe PK. Surgical treatment of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001; 30:137.
- Nihoul-Fékété C, Thibaud E, Lortat-Jacob S, Josso N. Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. J Urol 2006; 175:1878.
- Jordan G, Gilbert D. Phallic construction 2002: Current concepts and future directions. Growth, Genetics & Hormones 2002; 18:1.
- Migeon CJ, Wisniewski AB, Gearhart JP, et al. Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics 2002; 110:e31.
- Migeon CJ, Wisniewski AB, Brown TR, et al. 46,XY intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood. Pediatrics 2002; 110:e32.
- Blanc T, Ayedi A, El-Ghoneimi A, et al. Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood. Eur J Endocrinol 2011; 165:907.
- Reiner WG, Gearhart JP, Jeffs R. Psychosexual dysfunction in males with genital anomalies: late adolescence, Tanner stages IV to VI. J Am Acad Child Adolesc Psychiatry 1999; 38:865.
- Cohen-Kettenis PT. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 2005; 34:399.
- Slijper FM, Drop SL, Molenaar JC, de Muinck Keizer-Schrama SM. Long-term psychological evaluation of intersex children. Arch Sex Behav 1998; 27:125.
- Houk CP, Hughes IA, Ahmed SF, et al. Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics 2006; 118:753.
- Karkazis K, Tamar-Mattis A, Kon AA. Genital surgery for disorders of sex development: implementing a shared decision-making approach. J Pediatr Endocrinol Metab 2010; 23:789.
- Achenbach TM, Edelbrock C. Manual for the Child Behavior Checklist and Revised Child Behavior Profile, University of Vermont Department of Psychiatry, Burlington, VT 1983.
- Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI. Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 2008; 37:85.
- Meyer-Bahlburg HF, Dolezal C, Baker SW, et al. Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. Arch Sex Behav 2006; 35:667.
- Dessens AB, Slijper FM, Drop SL. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 2005; 34:389.
- Warne GL. Long-term outcome of disorders of sex development. Sex Dev 2008; 2:268.
- Liao LM, Tacconelli E, Wood D, et al. Adolescent girls with disorders of sex development: A needs analysis of transitional care. J Pediatr Urol 2010; 6:609.
- Meyer-Bahlburg HF. Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development. Child Adolesc Psychiatr Clin N Am 2011; 20:639.
- Looijenga LH, Hersmus R, Oosterhuis JW, et al. Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab 2007; 21:480.
- Hersmus R, de Leeuw BH, Wolffenbuttel KP, et al. New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD). Mol Cell Endocrinol 2008; 291:1.
- Gourlay WA, Johnson HW, Pantzar JT, et al. Gonadal tumors in disorders of sexual differentiation. Urology 1994; 43:537.
- Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987; 25:191.
- Manuel M, Katayama PK, Jones HW Jr. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 1976; 124:293.
- Ahmed SF, Hughes IA. The genetics of male undermasculinization. Clin Endocrinol (Oxf) 2002; 56:1.
- INITIAL STABILIZATION
- Fluid and electrolytes
- Family coping
- Further evaluation
- GENDER DECISIONS
- Traditional approach
- - Limitations
- Follow-up studies
- - Functional and cosmetic outcomes
- - Psychosocial outcomes
- Current approaches
- - Consensus statement
- - Alternative guidelines
- Our approach
- - Gender assignment
- - Genital surgery
- LONG-TERM MANAGEMENT
- Psychosexual issues
- Medical concerns
- - Gonads
- - Sex steroids
- - Other complications
- SUPPORT GROUPS AND INTERNET SITES
- SUMMARY AND RECOMMENDATIONS
- Initial management
- Gender assignment and surgery
- Long-term issues