Raizada Nishant, Nonglait Phibakordor L.
Associate Professor and Head, Department of Endocrinology, Center for Diabetes, Endocrinology and Metabolism, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
Senior Resident, Department of Endocrinology, Center for Diabetes, Endocrinology and Metabolism, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
The adrenal gland is essential for survival and its function is compartmentalized into specific zones. Disorders of the adrenal gland can be classified as those affecting the adrenal cortex or medulla. Pediatric adrenal disorders can have distinct presentations and etiologies in comparison to adults, such as adrenal insufficiency associated with genetic syndromes or Cushing’s syndrome associated with adrenocortical tumors and primary pigmented nodular adrenocortical disease. Congenital adrenal hyperplasia (CAH) has been commonly reported from the tropics, and rare variants of CAH have also been recognized in populations where consanguinity is prevalent. Pheochromocytomas and paragangliomas (PPGL) have been reported from tropical countries, some with rare presentations. The frequent rate of heritability and mutations in PPGL highlights the importance of genetic studies among children. The role of functional imaging is evolving for PPGLs as data is emerging from cohort studies. Disorders of Sex Development (DSD) comprise a heterogeneous group of disorders that can present in any age group. DSDs in childhood usually present with ambiguous genitalia and a multidisciplinary approach is required for its management. The diagnosis of adrenal disorders can sometimes pose a challenge in tropical countries due to resource constraints, lack of awareness, and access to medical care. However, available data from cohort studies and case reports have highlighted differences in etiology and presentation as compared to other parts of the world and the need for further studies. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.
肾上腺对生存至关重要，其功能被划分为特定区域。肾上腺疾病可分为影响肾上腺皮质或髓质的疾病。与成人相比，儿童肾上腺疾病可有不同的表现和病因，例如与遗传综合征相关的肾上腺功能不全或与肾上腺皮质肿瘤及原发性色素沉着性结节性肾上腺皮质病相关的库欣综合征。先天性肾上腺皮质增生症（CAH）在热带地区常有报道，在近亲结婚普遍的人群中也发现了CAH的罕见变异型。热带国家也有嗜铬细胞瘤和副神经节瘤（PPGL）的报道，有些表现罕见。PPGL较高的遗传率和突变率凸显了儿童基因研究的重要性。随着队列研究数据的出现，功能成像在PPGL中的作用正在不断演变。性发育障碍（DSD）是一组异质性疾病，可出现在任何年龄组。儿童期的DSD通常表现为生殖器模糊，其管理需要多学科方法。由于资源限制、认识不足和医疗服务可及性问题，肾上腺疾病的诊断在热带国家有时会构成挑战。然而，队列研究和病例报告中的现有数据突出了与世界其他地区相比病因和表现的差异以及进一步研究的必要性。欲全面涵盖内分泌学的所有相关领域，请访问我们的在线免费网络文本，WWW.ENDOTEXT.ORG。
