The Diabetes Endocrine, Metabolism Paediatric Unit (DEMPU), Children's Hospital, Department of Paediatrics, Faculty of Medicine, Cairo University, Egypt.
Endokrynol Pol. 2021;72(5):558-565. doi: 10.5603/EP.a2021.0045. Epub 2021 May 19.
The aim of the current work was to review the clinical profile, aetiological classification, as well as the management of Egyptian paediatric patients with disorders of sex development (DSD) presenting at a tertiary centre in Cairo.
The study was a cross-sectional observational study that included Egyptian patients who attended the Endocrinology clinic during a period of one year from January to December 2019. All patients with overt genital ambiguity aged from 0 to 18 years were recruited in the study. Diagnosis of DSD was based on clinical features and hormonal profile.
Out of 100 patients, 71% had 46XY DSD, 24% had 46XX DSD, while sex chromosome DSD was identified in 5%. The median age of presentation was 12 months with 19% presented during infancy. The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). Most of the 46XX DSD (21/24) patients were diagnosed as classic congenital adrenal hyperplasia secondary to deficiency of 21 hydroxylase enzyme, with 90% being salt wasters.
Our series revealed that 46XY DSD was the most frequent DSD aetiological diagnosis, with androgen insensitivity syndrome representing the commonest cause. CAH with classic salt wasting type was the second most common disorder. Management of children with DSD is challenging especially with lack of adequate resources. The crucial issues that stand against proper diagnosis and management are late presentation combined with economic constrains, and social and cultural issues.
本研究旨在回顾埃及开罗一家三级医院就诊的小儿性发育障碍（DSD）患者的临床特征、病因分类以及治疗方法。
这是一项横断面观察性研究，纳入了 2019 年 1 月至 12 月期间在内分泌科就诊的埃及患者。所有年龄在 0 至 18 岁之间且存在明显生殖器模糊的患者均被纳入本研究。DSD 的诊断基于临床特征和激素谱。
在 100 例患者中，71%为 46XY DSD，24%为 46XX DSD，5%为性染色体 DSD。中位就诊年龄为 12 个月，19%在婴儿期就诊。46XY DSD 最常见的病因是雄激素合成或作用缺陷（40%），其中大多数为雄激素不敏感综合征（28%）。大多数 46XX DSD（21/24）患者被诊断为经典的先天性肾上腺增生症，继发于 21 羟化酶缺乏，其中 90%为失盐型。
本系列研究表明，46XY DSD 是最常见的 DSD 病因诊断，其中雄激素不敏感综合征是最常见的病因。经典失盐型 CAH 是第二常见的疾病。儿童 DSD 的治疗具有挑战性，尤其是由于资源不足导致的诊断和管理不当。阻碍正确诊断和管理的关键问题是就诊晚、经济限制以及社会和文化问题。
