Olson Christina A, Crudo David F
Department of Pediatrics, US Naval Hospital Guam, Hawaii, USA.
J Pediatr Adolesc Gynecol. 2011 Apr;24(2):e29-31. doi: 10.1016/j.jpag.2010.08.018. Epub 2010 Dec 28.
A 17-year-old female presented with diffuse muscle weakness secondary to severe hypokalemia, metabolic alkalosis, and hypertension. Additional findings included delayed puberty with primary amenorrhea. Laboratory evaluation led to a diagnosis of 17 alpha-hydroxylase/17,20-lyase (P450c17) deficiency, a form of congenital adrenal hyperplasia (CAH). Her symptoms and metabolic derangements improved with glucocorticoid replacement to suppress ACTH production and mineralocorticoid excess, although she continues to require antihypertensive therapy. Estrogen replacement was initiated due to sex hormone insufficiency. This rare disorder should be considered when evaluating patients with pubertal delay and hypertension, particularly if there is associated hypokalemia.
一名17岁女性因严重低钾血症、代谢性碱中毒和高血压出现弥漫性肌无力。其他发现包括青春期延迟伴原发性闭经。实验室检查诊断为17α-羟化酶/17,20-裂解酶（P450c17）缺乏症，这是先天性肾上腺皮质增生症（CAH）的一种形式。通过糖皮质激素替代治疗以抑制促肾上腺皮质激素（ACTH）分泌和醛固酮过多，她的症状和代谢紊乱得到改善，尽管她仍需要抗高血压治疗。由于性激素不足，开始进行雌激素替代治疗。在评估青春期延迟和高血压患者时，尤其是伴有低钾血症时，应考虑这种罕见疾病。
