Primary hyperparathyroidism and Klinefelter's syndrome in a young man

Endocrinology, Diabetes & Metabolism Case Reports

article

E Castellano¹  M Pellegrino¹  R Attanasio²  V Guarnieri³  A Maffè⁴  G Borretta¹ 

[1] Division of Endocrinology;Endocrinology Service, Galeazzi Institute IRCCS;Genetics Unit;Genetics and Molecular Biology

关键词: Adolescent/young adult;    Male;    White;    Italy;    Bone;    Andrology;    Bone;    PTH;    FSH;    LH;    testosterone;    Hyperparathyroidism (primary);    Klinefelter syndrome;    Renal colic;    Fatigue;    Osteoporosis;    Hypercalcaemia;    Hypogonadism;    PTH;    FSH;    Testosterone;    Calcium-to-creatinine clearance ratio;    DEXA scan;    Genetic analysis;    Ultrasound scan;    Calcium (serum);    Calcium (urine);    25-hydroxyvitamin-D3;    Osteocalcin;    Parathyroidectomy;    Vitamin D;    Cholecalciferol;    Paediatrics;    New disease or syndrome;    presentations/diagnosis/management;    April;    2015;   

DOI  :  10.1530/EDM-15-0019

学科分类：血液学

来源: Bioscientifica Ltd.

【 摘 要 】

We report the association of primary hyperparathyroidism (PHPT) and Klinefelter’s syndrome (KS) in a 22-year-old malecomplaining of worsening fatigue. PHPT was asymptomatic at the diagnosis, but the patient had worsening hypercalcemiaand osteoporosis, and developed acute renal colic. He then underwent parathyroidectomy with resection of a singleadenoma and normalization of calcium and parathyroid hormone levels. Clinical and therapeutic implications of this rareassociation are discussed.

【 授权许可】

CC BY-NC-ND