Abstract
Background
Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand.
Methods
The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991–2011 were retrospectively reviewed.
Results
Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3–5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females.
Conclusion
Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.
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References
Achermann JC, Hughes IA. Disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams textbook of endocrinology, 12th ed. Philadelphia: Elsevier Saunders, 2011: 868–934.
Hughes IA. The testes: disorders of sexual differentiation and puberty in the male. In: Sperling MA, eds. Pediatric endocrinology, 3rd ed. Philadelphia: Saunders Elsevier, 2008: 662–685.
Hughes IA. Evaluation and management of disorders of sex development. In: Brook CGD, Clayton PE, Brown RS, eds. Brook’s clinical pediatric endocrinology, 6th ed. Oxford: Wiley-Blackwell, 2009: 192–212.
Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES1/ESPE2 consensus group. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554–563.
Houk CP, Hughes IA, Ahmed SF, Lee PA, for the Writing Committee for the International Consensus Conference Participants. Summary of consensus statement on intersex disorders and their management. Pediatrics 2006;118:753–757.
Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab 2008;22:119–134.
Thyen U, Lanz K, Holterhus P-M, Hiort O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 2006;66:195–203.
Sax L. How common is intersex? A response to Anne Fausto-Sterling. J Sex Res 2002;39:174–178.
Nutrition Division, Department of Health. Ministry of Public Health, Thailand. National growth references for children under 20 years of age, 1999.
Prader A. Male pseudohermaphroditism. Helv Paediatr Acta 1974;34:79–86.
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.
Al-Agha AE, Thomset MJ, Batch JA. The child of uncertain sex: 17 years of experience. J Pediatr Child Health 2001;37:348–351.
Al-Muttair A, Iqbal MA, Sakati N, Ashwal A. Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients. Ann Saudi Med 2004;24;368–372.
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics 1999;104:304–308.
Warne GL. Long-term outcome of disorders of sex development. Sex Dev 2008;2:268–277.
Morel Y, Rey R, Teinturier C, Nicolino M, Michel-Calemard L, Mowszowicz I, et al. Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 2002;161:49–59.
Ocal G, Berberoğlu M, Siklar Z, Bilir P, Yağmurlu A, Tükün A, et al. Disorders of sexual development: an overview of 18 years experience in the pediatric endocrinology department of Ankara University. J Pediatr Endocrinol Metab 2010;23:1123–1132.
Cools M, van Aerde K, Kersemaekers AM, Boter M, Drop SL, Wolffenbuttel KP, et al. Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes. J Clin Endocrinol Metab 2005;90:5295–5303.
Cools M, Looijenga LH, Wolffenbuttel KP. Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. World J Pediatr 2009;5:93–102.
Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab 2005;18:549–553.
Parisi MA, Ramsdell LA, Burns MW, Carr MC, Grady RE, Gunther DF, et al. A Gender Assessment Team: experience with 250 patients over a period of 25 years. Genet Med 2007;9:348–357.
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Jaruratanasirikul, S., Engchaun, V. Management of children with disorders of sex development: 20-year experience in southern Thailand. World J Pediatr 10, 168–174 (2014). https://doi.org/10.1007/s12519-013-0418-0
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DOI: https://doi.org/10.1007/s12519-013-0418-0