性发育障碍的临床谱系：一项横断面观察性研究。
Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study.
作者信息
Dar Sheeraz A, Nazir Mudasir, Lone Roumissa, Sameen Duri, Ahmad Ikhlas, Wani Wasim A, Charoo Bashir A
机构信息
Department of Pediatrics and Neonatology, Sher-I-Kashmir Institute of Medical Sciences Hospital, Srinagar, Jammu and Kashmir, India.
Department of Community Medicine, Govenment Medical College, Jammu, Jammu and Kashmir, India.
出版信息
Indian J Endocrinol Metab. 2018 Nov-Dec;22(6):774-779. doi: 10.4103/ijem.IJEM_159_18.
OBJECTIVE
Disorders of sex development (DSD) constitutes a small but difficult and equally important area of endocrinology. It is often a social emergency as the decision regarding sex assignment in these cases is extremely disturbing and difficult to both families and healthcare professionals. Our study was devised to assess the clinical and chromosomal profile of patients with suspected DSD and classify them according to the new DSD consensus document.
SUBJECTS AND METHODS
This study was a cross-sectional observational study carried out in the department of pediatrics of a tertiary care hospital from August 2012 to August 2014. All patients with suspected DSD in the age group of 0-19 years were included. After detailed history and examination, karyotyping, abdominal sonography, and hormonal analysis were done. Additional studies like gonadal biopsy, laparoscopy, and hormone stimulation tests were done in selected cases.
RESULTS
About 41 patients were included in the study. The mean age of presentation was 87 months (1 day to 16 years). Only seven (13.7%) patients presented in neonatal period. In total, 25 patients had ambiguous genitalia; 46, XX DSD were diagnosed in 24 (58.5%) patients, 46, XY DSD in 10 (24.4%) patients, and sex chromosome DSD in 7 (17.1%). Congenital adrenal hyperplasia (CAH) was the commonest disease diagnosed in 21 (51.2%) patients. Turner syndrome, Klinefelter syndrome, androgen insensitivity syndrome, 46, XX ovotesticular disorder, and 46, XY gonadal dysgenesis were diagnosed in 3, 3, 4, 3, and 5 patients, respectively. Eleven patients with CAH presented in shock and six had history of sib deaths.
CONCLUSION
46, XX DSD were the commonest etiological group in our study and CAH was the commonest individual disease. There is a need for educating general public and practitioners regarding DSD to allow early intervention. Moreover, there is a need to introduce routine neonatal screening for CAH in our country.
目的
性发育障碍（DSD）是内分泌学中一个规模较小但棘手且同样重要的领域。这通常是一种社会急症，因为在这些病例中关于性别的指定决策对家庭和医疗保健专业人员来说都极其困扰且困难。我们的研究旨在评估疑似DSD患者的临床和染色体特征，并根据新的DSD共识文件对他们进行分类。
对象与方法
本研究是一项横断面观察性研究，于2012年8月至2014年8月在一家三级护理医院的儿科进行。纳入所有年龄在0至19岁的疑似DSD患者。在详细询问病史和进行检查后，进行了染色体核型分析、腹部超声检查和激素分析。在选定的病例中还进行了性腺活检、腹腔镜检查和激素刺激试验等其他研究。
结果
约41名患者纳入研究。就诊时的平均年龄为87个月（1天至16岁）。仅7名（13.7%）患者在新生儿期就诊。总共有25名患者生殖器模糊；24名（58.5%）患者被诊断为46, XX DSD，10名（24.4%）患者为46, XY DSD，7名（17.1%）患者为性染色体DSD。先天性肾上腺增生（CAH）是最常见的疾病，21名（51.2%）患者被诊断为此病。分别有3名、3名、4名、3名和5名患者被诊断为特纳综合征、克兰费尔特综合征、雄激素不敏感综合征、46, XX卵睾体发育障碍和46, XY性腺发育不全。11名CAH患者出现休克，6名有同胞死亡史。
结论
46, XX DSD是我们研究中最常见的病因组，CAH是最常见的单一疾病。需要对公众和从业者进行关于DSD的教育，以便早期干预。此外，我国有必要引入CAH的常规新生儿筛查。
Zotero 插件