{"id":272,"title":"When Less is More: A Physiology-Driven Approach to a 17-Hydroxylase Deficiency Case Series","title_zh":"少即是多：以生理为导向的17α-羟化酶缺陷病例系列管理策略","url":"https://pubmed.ncbi.nlm.nih.gov/42993172","doi":"10.1159/hrp/adaag058","pmid":"42993172","journal":"Horm Res Paediatr","kind":"paper","lang":"en","published_at":"2026-11-06T00:00:00+00:00","fetched_at":"2026-11-08T03:44:04+00:00","authors":["Bastien L","Sasidharan Pillai S","Geller D","Auchus R","Witchel S","Ahmet A"],"primary_topic":"repro-endo","topics":[{"slug":"oocyte","score":1.0,"hits":["ovarian"]},{"slug":"repro-endo","score":1.0,"hits":["primary ovarian insufficiency"]}],"topic_score":1.0,"preference_score":0.0,"preference_labels":[],"llm_score":65.0,"final_score":65.0,"score_dims":{"novelty":60,"rigor":35,"impact":50,"relevance":62,"translation":68},"recommend_reason":"以3例罕见17OHD病例说明“生理剂量GC或盐皮质激素受体拮抗剂单药”可纠正高血压低血钾并减少医源性并发症，对生殖内分泌临床的罕见CAH用药决策有直接参考价值；但为小样本病例系列、无对照与长期随访数据，证据等级有限。","keywords":["17α-羟化酶缺陷","先天性肾上腺皮质增生症","糖皮质激素","盐皮质激素受体拮抗剂","原发性卵巢功能不全","高血压"],"selected":1,"story_id":20,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-endo-genetics","source_name":"PubMed · 生殖内分泌/遗传/保存","source_tier":1,"mention_count":1,"has_interpretation":false,"journal_key":null,"journal_tier":"unknown","journal_if":null,"is_mock":false,"summary_zh":"17α-羟化酶缺陷（17OHD）是CYP17A1突变所致罕见先天性肾上腺皮质增生症，因皮质酮代偿性升高，患者皮质醇低却少有肾上腺功能不全表现；外源糖皮质激素（GC）是治疗基石但副作用显著，管理证据有限。本文报告3例14岁起病的女性青少年（性发育延迟、高血压、原发性卵巢功能不全）：1例经每日一次生理剂量氢化可的松联合螺内酯加量后血压正常；1例长期地塞米松超生理剂量致多种并发症，改为氢化可的松分次给药后血压血钾正常；1例停用GC改用螺内酯单药后血压血钾维持正常。作者强调依据病理生理设计用药、避免超生理剂量GC。","summary":"BACKGROUND: 17-hydroxylase deficiency (17OHD) is a very rare form of congenital adrenal hyperplasia (CAH) caused by autosomal recessive mutations in the cytochrome P450 family (CYP17A1). Despite low cortisol, adrenal insufficiency does not typically manifest because elevated corticosterone, a weaker glucocorticoid (GC), exerts GC effects. Exogenous GC are the foundation of treatment but can be associated with significant side effects. Published literature regarding management strategies is limited. CASE PRESENTATIONS: We describe three female adolescents treated for 17OHD with different GC regimens. All patients presented at age 14 with delayed puberty, hypertension, and primary ovarian insufficiency. Patient 1 was initially treated with physiological hydrocortisone divided three times daily (10 mg/m2/d) and spironolactone 100 mg/d, separately and combined, which did not lower her blood pressure (BP). Eventually, a combination of physiological hydrocortisone once daily (8.8 mg/m2/d) and gradual titration to a higher spironolactone dose (100 mg bid) normalized her BP (115/75 mmHg) with no side effects. Patient 2 was treated with dexamethasone 0.25 mg daily for 10 years with poor follow-up and developed multiple complications related to supraphysiological GC use. She was transitioned and successfully treated with hydrocortisone 10 mg every morning and 5 mg every afternoon with a normal BP and potassium for over a year. Patient 3 was treated with cortisone acetate for 2.6 years and then with dexamethasone for about 10 months before discontinuation of GC and transition to spironolactone monotherapy. Her potassium and BP remained normal. CONCLUSION: In conclusion, 17OHD is a rare form of CAH, with about 500 published cases and limited established management guidance. Our cases highlight the importance of considering the pathophysiology of 17OHD when developing a management plan; a supraphysiological GC therapy may not be necessary to manage the hypertension and hypokalemia. Physiological hydrocortisone dosing lowers but does not normalize DOC production allowing DOC to exert GC effects. Physiological hydrocortisone and/or monotherapy with mineralocorticoid receptor antagonists both mitigate GC-related side effects, avoid adrenal suppression, and minimize risk for adrenal crisis in patients with 17OHD.","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}