Ocal G, Berberoğlu M, Siklar Z, Bilir P, Uslu R, Yağmurlu A, Tükün A, Akar N, Soygür T, Gültan S, Gedik V Tonyukuk
Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
J Pediatr Endocrinol Metab. 2010 Nov;23(11):1123-32. doi: 10.1515/jpem.2010.177.
Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD.
Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008.
46,XY DSD (52.4%) was more common than 46,XX DSD (34.6%) and gonadal differentiation disorders (12.99%). Thirty-six (33.02%) patients were diagnosed with androgen resistance syndrome, 41 (37.61%) had 5alpha-reductase deficiency, 23 (21.10%) had testosterone synthesis disorders. Congenital adrenal hyperplasia was the most frequent underlying cause of 46,XX DSD.
There are many difficult aspects in the diagnosis and management of DSD. Gender assessment teams of endocrine centers need a multidisciplinary approach for the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of these patients.
性发育障碍（DSD）是指内生殖器和/或外生殖器的外观与正常两性发育不一致的情况。我们回顾了性发育障碍患者的特征。
1990年至2008年间208名年龄从新生儿到19岁的性发育障碍儿童。
46,XY性发育障碍（52.4%）比46,XX性发育障碍（34.6%）和性腺分化障碍（12.99%）更常见。36例（33.02%）患者被诊断为雄激素抵抗综合征，41例（37.61%）患有5α-还原酶缺乏症，23例（21.10%）患有睾酮合成障碍。先天性肾上腺皮质增生是46,XX性发育障碍最常见的潜在病因。
性发育障碍的诊断和管理存在许多难点。内分泌中心的性别评估团队需要采用多学科方法对这些患者进行诊断、药物和手术治疗、遗传咨询以及心理社会支持。
