Lam-Chung César Ernesto, Rodríguez Larissa López, Kato Yayoi Segura, Jiménez González Iván Josué, Mena-Hernández Lourdes, Rivera-Juárez Renata, Almeda-Valdes Paloma, Vázquez Jazmín Arteaga
Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México.
Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México.
AACE Clin Case Rep. 2021 Mar 13;7(5):293-298. doi: 10.1016/j.aace.2021.03.001. eCollection 2021 Sep-Oct.
The presence of primary hyperparathyroidism (PHPT) and Klinefelter syndrome (KS) is rare, and its association with KS mosaicism is even rarer. We report an unusual combination of these entities with a mild phenotype of KS.
The patient was a 44-year-old male with a history of PHPT who had recurrent urolithiasis despite being treated with a successful parathyroidectomy. On examination, he had axillary hair growth, bilateral gynecomastia, a large port-wine stain at the right hemithorax and upper right limb, and genitalia and pubic hair corresponding to Tanner IV classification with small, normal consistency testicles.
Laboratory findings were unremarkable except for a slightly elevated luteinizing hormone, which was normal on repeat testing. Because of the picture of unexplained gynecomastia, laboratory findings, and low-volume testis, a diagnosis of KS was considered. Chromosomal analysis revealed a rare 45,X/46,XY/47,XXY/48,XXYY/48,XXXY KS mosaic.
KS phenotypes are largely variable, and their association with PHPT remains to be elucidated.
原发性甲状旁腺功能亢进症（PHPT）与克兰费尔特综合征（KS）同时存在的情况较为罕见，而其与KS嵌合体的关联则更为罕见。我们报告了这两种病症的一种不寻常组合，伴有轻度的KS表型。
该患者为一名44岁男性，有PHPT病史，尽管接受了成功的甲状旁腺切除术，但仍反复出现尿路结石。检查发现，他有腋毛生长、双侧乳腺增生、右半胸和右上肢有大片葡萄酒色斑，生殖器和阴毛符合坦纳IV级分类，睾丸小但质地正常。
实验室检查结果除促黄体生成素略有升高外无异常，复查时该指标正常。由于存在不明原因的乳腺增生、实验室检查结果以及睾丸体积小等情况，考虑诊断为KS。染色体分析显示为罕见的45,X/46,XY/47,XXY/48,XXYY/48,XXXY KS嵌合体。
KS的表型差异很大，其与PHPT的关联仍有待阐明。
