Wei Limin, Liu Yi, Sun Sufen, Tang Yong, Chen Shuchun, Song Guangyao
Department of Endocrinology and Metabolism, Hebei General Hospital, Shijiazhuang.
HeBei North University, Zhangjiakou, Hebei, China.
Medicine (Baltimore). 2019 Sep;98(39):e17342. doi: 10.1097/MD.0000000000017342.
The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations.
We describe a 19-year-old man, whose chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY. His mental development and motor ability were significantly delayed. At the age of 19, he had failed to develop secondary sexual characteristics. His random blood glucose level was 19.61 mmol/L, and he showed dry mouth, polydipsia, and polyuria. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus. His bilateral elbow rotation was limited. He had atrophic testes with micropenis. Ophthalmic examination revealed a polar cataract in both eyes.
He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism, cataracts, diabetes, and other anomalies.
After the initial diagnosis, the patient received intensive insulin therapy to correct hyperglycemia, and he received calcium and vitamin D supplements. The patient also received testosterone and thyroid hormone replacement therapy for primary hypogonadism.
The patient was discharged 12 days after receiving treatment; meanwhile, there were no clinical symptoms of dry mouth, polyuria and polyuria, and his blood glucose level was controlled.
The combination of cleft palate, hypothyroidism, cataracts, diabetes, and osteoporosis in 49,XXXXY syndrome has not yet been reported. Early treatment and appropriate care can significantly improve the patient's quality of life and prevent serious consequences.
核型49,XXXXY是克兰费尔特综合征的一种罕见形式，通常表现为生殖器模糊、面部畸形、智力迟钝以及心脏、骨骼和其他畸形的组合。
我们描述一名19岁男性，其外周血染色体分析显示核型为49,XXXXY。他的智力发育和运动能力明显延迟。19岁时，他未能发育出第二性征。他的随机血糖水平为19.61毫摩尔/升，表现为口干、多饮和多尿。他具有特征性的面部外观，如下颌前突、鼻梁变宽和斜视。他的双侧肘关节旋转受限。他的睾丸萎缩且阴茎短小。眼科检查发现双眼有极性白内障。
他被诊断为克兰费尔特综合征，伴有腭裂、甲状腺功能减退、白内障、糖尿病和其他异常。
初步诊断后，患者接受强化胰岛素治疗以纠正高血糖，并接受钙和维生素D补充剂。患者还因原发性性腺功能减退接受睾酮和甲状腺激素替代治疗。
患者在接受治疗12天后出院；同时，口干、多尿和多饮的临床症状消失，血糖水平得到控制。
49,XXXXY综合征合并腭裂、甲状腺功能减退、白内障、糖尿病和骨质疏松症的情况尚未见报道。早期治疗和适当护理可显著提高患者的生活质量并预防严重后果。
