El enigma de la enfermedad de Enrique IV, rey de Castilla: ¿padeció síndrome de McCune-Albright/displasia fibrosa?

M. Teresa Tuñón Álvarez , Adolfo Ruiz Calleja , Guiomar Pérez de Nanclares
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Abstract

Background

Henry IV King of Castile, last king of the Trastámara dynasty, was the brother of Isabella the Catholic. He is known as “the impotent”. Based on previous descriptions by historians and biographers, Gregorio Marañón in 1922 described him as “eunuchoid dysplastic with acromegalic reaction and clear schizoid features”.

Methods

In 1946, a post-mortem inspection was carried out on the mummified corpse found in the Monastery of Guadalupe. A written document and some photographs were recorded. We have collected the signs and symptoms described and applied the international classification of diseases recommended by the World Health Organisation, ICD11-2023. We have relied on the coins issued in the money of Henry IV, on which we have identified enlargement of the thyroid gland.

Results

With the data available at this time, we suggest that Henry IV most probably suffered from: facial and polyostotic bone dysplasia, kyphosis, limb limping, multiple endocrine disorders, acromegaly with macrognatia, nodular thyroid disease, malodorous diaphoresis, erectile dysfunction, hypospadias, abnormal sexual development, “feminoid pelvis”, abdominal colic, oligodontia and dental displacement. It is possible that he also suffered from: precocious puberty, renal lithiasis with debilitating phosphaturia, carpal tunnel, thrombopenia and growth hormone-producing pituitary hyperplasia or adenoma.

Conclusion

We suggest that Henry IV may have suffered from McCune–Albrigth syndrome associated with fibrous dysplasia, a rare disease due to gain-of-function mutations in the GNAS gene.

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卡斯蒂利亚国王亨利四世疾病之谜:他患有麦考恩-奥尔布赖特综合征/纤维发育不良?
背景卡斯蒂利亚国王亨利四世,特拉斯塔玛拉王朝的最后一位国王,是天主教徒伊莎贝拉的兄弟。他被称为“无能者”。根据历史学家和传记作家的描述,Gregorio Marañón在1922年将其描述为“具有肢端肥大症反应和明显的精神分裂症特征的宦官样发育异常”。记录了一份书面文件和一些照片。我们收集了所描述的体征和症状,并应用了世界卫生组织推荐的国际疾病分类ICD11-2023。我们依赖于亨利四世时期发行的货币,根据这些货币,我们发现甲状腺肿大。结果根据目前的数据,我们认为亨利四世很可能患有:面部和多发性骨发育不良、后凸、四肢跛行、多种内分泌障碍、肢端肥大症伴大颚、结节性甲状腺疾病、发汗臭味、勃起功能障碍、尿道下裂、性发育异常、“女性骨盆”、腹部绞痛,牙齿缺失和牙齿移位。他可能还患有:性早熟、肾结石伴衰弱性磷酸盐尿、腕管、血小板减少症和产生生长激素的垂体增生或腺瘤。结论Henry IV可能患有与纤维发育不良相关的McCune–Albrigth综合征,这是一种由于GNAS基因功能获得突变引起的罕见疾病。
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来源期刊
Revista Espanola de Patologia
Revista Espanola de Patologia Medicine-Pathology and Forensic Medicine
CiteScore
0.90
自引率
0.00%
发文量
53
审稿时长
34 days
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