School of Medicine, Sydney, The University of Notre Dame, Darlinghurst, NSW 2010, Australia.
Endocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
J Clin Endocrinol Metab. 2023 Aug 18;108(9):e885-e892. doi: 10.1210/clinem/dgad121.
Adrenal medullary hyperplasia (AMH) is a rare, incompletely described disorder of the adrenal medulla that is associated with catecholamine excess.
To increase knowledge about AMH by reviewing the reported cases of this disorder.
Systematic review and meta-analysis of the genotype/phenotype relationship in all reported cases of AMH.
Literature review and analysis.
All cases of AMH published to date.
MAIN OUTCOME MEASURE(S): Characteristics of AMH cases and genotype-phenotype relationships.
A total of 66 patients, median age of 48 years, were identified from 29 reports. More than one-half were male (n = 39, 59%). The majority had unilateral (73%, n = 48) disease; 71% (n = 47) were sporadic and 23% (n = 15) were associated with the MEN2. Most (91%, n = 60) displayed signs and symptoms of excess catecholamine secretion, particularly hypertension. Elevated catecholamine concentrations (86%, n = 57) and adrenal abnormalities on imaging were common (80%, n = 53). More than one-half (58%, n = 38) had concurrent tumors: pheochromocytoma (42%, n = 16/38); medullary thyroid cancer (24%, n = 9/38); and adrenocortical adenoma (29%, n = 11/38). Most (88%, n = 58) underwent adrenalectomy with 45/58 achieving symptom resolution. Adrenalectomy was less common in patients under 40 years and those with bilateral disease (both P < .05).
AMH may be sporadic or associated with MEN2, most have catecholamine excess and imaging abnormalities. Unilateral involvement is more common. Most reported patients have been treated with adrenalectomy, which is usually curative with regard to catecholamine hypersecretion.
肾上腺髓质增生（AMH）是一种罕见的、不完全描述的肾上腺髓质疾病，与儿茶酚胺过多有关。
通过回顾这种疾病的报道病例来增加对 AMH 的认识。
对所有报道的 AMH 病例的基因型/表型关系进行系统回顾和荟萃分析。
文献回顾和分析。
迄今为止发表的所有 AMH 病例。
AMH 病例的特征和基因型-表型关系。
从 29 份报告中确定了 66 例中位年龄为 48 岁的患者。超过一半是男性（n = 39，59%）。大多数为单侧（73%，n = 48）疾病；71%（n = 47）为散发性，23%（n = 15）与 MEN2 相关。大多数（91%，n = 60）表现出儿茶酚胺分泌过多的迹象和症状，特别是高血压。升高的儿茶酚胺浓度（86%，n = 57）和影像学上的肾上腺异常很常见（80%，n = 53）。超过一半（58%，n = 38）同时存在肿瘤：嗜铬细胞瘤（42%，n = 16/38）；甲状腺髓样癌（24%，n = 9/38）；和肾上腺皮质腺瘤（29%，n = 11/38）。大多数（88%，n = 58）接受了肾上腺切除术，其中 45/58 例症状得到缓解。40 岁以下和双侧病变的患者（均 P <.05）接受肾上腺切除术的情况较少。
AMH 可能是散发性的或与 MEN2 相关的，大多数患者有儿茶酚胺过多和影像学异常。单侧受累更常见。大多数报道的患者接受了肾上腺切除术治疗，这通常对儿茶酚胺分泌过多是有效的。
