Subki Siham Hussein, Wadea Mohammed Hussain Raghad, Al-Agha Abdulmoein Eid
1Pediatrics Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Endocrinol Diabetes Metab Case Rep. 2022 Sep 1;2022. doi: 10.1530/EDM-22-0294.
Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexion compared to the family's skin color. Based on the clinical and biochemical findings, CLAH was diagnosed and glucocorticoid replacement therapy was initiated. As a result, we suggest that pediatricians should always investigate the possibility of adrenal insufficiency when encountering unusual dark skin.
Pediatricians should be prompted to rule out adrenal insufficiency in unexpectedly dark skin neonates. In such patients, pediatricians should not wait until the neonate develops an adrenal crisis. A low level of 17-hydroxyprogesterone does not always rule out the possibility of inherited adrenal gland disorders, and additional tests should be performed for early detection.
先天性类脂质肾上腺增生（CLAH）的特征是STAR蛋白编码基因存在缺陷，该缺陷会减弱所有类固醇生成途径。在此，我们报告沙特阿拉伯首例46 XY、表型为女性的婴儿病例，该婴儿肤色与家人不同，呈深色且不常见。基于临床和生化检查结果，诊断为CLAH并开始糖皮质激素替代治疗。因此，我们建议儿科医生在遇到异常深色皮肤时，应始终调查肾上腺功能不全的可能性。
儿科医生应被提醒，要排除意外出现深色皮肤的新生儿肾上腺功能不全的情况。对于此类患者，儿科医生不应等到新生儿发生肾上腺危象才采取措施。17-羟孕酮水平低并不总是排除遗传性肾上腺疾病的可能性，应进行额外检查以便早期发现。
