Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine, Ege University, Izmir, Turkey.
Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine, Ege University, Izmir, Turkey.
Eur J Med Genet. 2021 Mar;64(3):104154. doi: 10.1016/j.ejmg.2021.104154. Epub 2021 Jan 29.
Disorders of sex development (DSD) constitutes a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.
To evaluate the clinical and genetic features of childhood DSD cases.
DSD patients followed up between the years of 2002-2018 were evaluated in terms of their complaints, demographic, clinical features and genetic diagnoses.
Out of 289 patients, 143(49.5%) were classified as 46XY DSD, 62(21.5%) as 46XX DSD and 84(29%) as sex chromosomal DSD. Genetic diagnosis was achieved in 150 patients (51.9%). The distribution of the molecular diagnosis of the 46XY DSD patients were; 12 (26.6%) SRD5A2, 10 (22.2%) AR, 7 (15.5%) HSD17B3, 3 (6.6%) WT-1, 2 (4.4%) AMHR2, 2 (4.4%) AMH, 2 (4.4%) LHCGR, 2 (4.4%) HSD3B2, 1 (2.2%) NR5A1, 1 (2.2%) CYP17A1 and 1 (2.2%) SRY mutation. Fifty (80.6%) of the 46XX DSD patients received a diagnosis with clinical and laboratory findings. Twenty-four (38.7%) of them were 21-hydroxylase deficiency, 9(14.5%) Rokitansky-Küster-Hauser Syndrome, 4 (6.5%) 11-β hydroxylase deficiency, 3 (4.8%) gonadal dysgenesis and 2 (3.2%) aromatase deficiency. In 46XX group pathogenic mutations were detected in 21(33.8%) of the patients. Eighty-four (29%) patients were diagnosed as sex chromosomal disorder. Of these 66 (78.5%) were Turner Syndrome, 6 (7.2%) Klinefelter Syndrome and 10 (11.9%) mix gonadal dysgenesis. Gender re-assignment was decided in 11 patients. Malignant and pre-invasive lesions was diagnosed in 8 (2.7%) patients.
Many of DSD's are clinically similar and etiology of numerous of them still cannot be established. A multi-disciplinary approach and new rapid genetic diagnostic methods are needed in the process from diagnosis to gender assignment and follow-up.
性发育障碍（DSD）是一组影响尿生殖分化的先天性疾病，与染色体、性腺和表型性别异常有关。
评估儿童 DSD 病例的临床和遗传特征。
对 2002-2018 年间随访的 DSD 患者进行评估，评估内容包括其主诉、人口统计学、临床特征和遗传诊断。
289 例患者中，143 例（49.5%）被归类为 46XY DSD，62 例（21.5%）为 46XX DSD，84 例（29%）为性染色体 DSD。150 例（51.9%）患者获得了遗传诊断。46XY DSD 患者的分子诊断分布为：12 例（26.6%）SRD5A2，10 例（22.2%）AR，7 例（15.5%）HSD17B3，3 例（6.6%）WT-1，2 例（4.4%）AMHR2，2 例（4.4%）AMH，2 例（4.4%）LHCGR，2 例（4.4%）HSD3B2，1 例（2.2%）NR5A1，1 例（2.2%）CYP17A1 和 1 例（2.2%）SRY 突变。50 例（80.6%）46XX DSD 患者通过临床和实验室发现获得诊断。其中 24 例（38.7%）为 21-羟化酶缺乏症，9 例（14.5%）为罗基坦斯基-库斯特-豪泽综合征，4 例（6.5%）为 11-β羟化酶缺乏症，3 例（4.8%）为性腺发育不良，2 例（3.2%）为芳香酶缺乏症。在 46XX 组中，21 例（33.8%）患者检测到致病性突变。84 例（29%）患者被诊断为性染色体疾病。其中 66 例（78.5%）为特纳综合征，6 例（7.2%）为克莱恩费尔特综合征，10 例（11.9%）为混合性腺发育不良。11 例患者决定进行性别重置。8 例（2.7%）患者诊断出恶性和侵袭前病变。
许多 DSD 的临床表现相似，其病因仍无法确定。从诊断到性别分配和随访，需要多学科方法和新的快速遗传诊断方法。
