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Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts.
Medicine (Baltimore) 2019; 98(39):e17342M

Abstract

RATIONALE

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.

PATIENT CONCERNS

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.

DIAGNOSIS

He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism, cataracts, diabetes, and other anomalies.

INTERVENTIONS

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.

OUTCOMES

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.

LESSONS

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.

Authors+Show Affiliations

Department of Endocrinology and Metabolism, Hebei General Hospital, Shijiazhuang.HeBei North University, Zhangjiakou, Hebei, China.Department of Endocrinology and Metabolism, Hebei General Hospital, Shijiazhuang.Department of Endocrinology and Metabolism, Hebei General Hospital, Shijiazhuang.Department of Endocrinology and Metabolism, Hebei General Hospital, Shijiazhuang.Department of Endocrinology and Metabolism, Hebei General Hospital, Shijiazhuang.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31574874

Citation

Wei, Limin, et al. "Case Report of 49,XXXXY Syndrome With Cleft Palate, Diabetes, Hypothyroidism, and Cataracts." Medicine, vol. 98, no. 39, 2019, pp. e17342.
Wei L, Liu Y, Sun S, et al. Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. Medicine (Baltimore). 2019;98(39):e17342.
Wei, L., Liu, Y., Sun, S., Tang, Y., Chen, S., & Song, G. (2019). Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. Medicine, 98(39), pp. e17342. doi:10.1097/MD.0000000000017342.
Wei L, et al. Case Report of 49,XXXXY Syndrome With Cleft Palate, Diabetes, Hypothyroidism, and Cataracts. Medicine (Baltimore). 2019;98(39):e17342. PubMed PMID: 31574874.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. AU - Wei,Limin, AU - Liu,Yi, AU - Sun,Sufen, AU - Tang,Yong, AU - Chen,Shuchun, AU - Song,Guangyao, PY - 2019/10/3/entrez PY - 2019/10/3/pubmed PY - 2019/10/11/medline SP - e17342 EP - e17342 JF - Medicine JO - Medicine (Baltimore) VL - 98 IS - 39 N2 - RATIONALE: 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. PATIENT CONCERNS: 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. DIAGNOSIS: He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism, cataracts, diabetes, and other anomalies. INTERVENTIONS: 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. OUTCOMES: 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. LESSONS: 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. SN - 1536-5964 UR - https://www.unboundmedicine.com/medline/citation/31574874/Case_report_of_49XXXXY_syndrome_with_cleft_palate_diabetes_hypothyroidism_and_cataracts_ L2 - http://dx.doi.org/10.1097/MD.0000000000017342 DB - PRIME DP - Unbound Medicine ER -