A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter Variant with Morbid Obesity
A 35-year-old man who visited the Department of Family Medicine due to obesity, was referred to the Department of Endocrinology for the evaluation of hormonal abnormalities. The patient's height was 174 cm, his body weight was 135.8 kg, his waist circumference was 137 cm, his hip circumference was 146 cm, and his body mass index was 44.85. He was morbidly obese and had gynecomastia, small testes and penis, and very sparse body hair. He did not report experiencing broken voice and was able to have erections.\nThe level of complete blood cell count were in normal range, white blood cell count 9270/mcL (Neutrophil/Lymphocyte/Monocyte/Eosinophil/Basophil 62.9/20.6/6.1/8.3/0.8%), hemoglobin 12.6 g/dL and platelet 333000/mcL. Routine chemistry showed no specific abnormality other than oral glucose tolerance test, at 2 hours after test glucose was 224 mg/dL. The patient showed increased levels of serum LH (19.88 mIU/mL) and FSH 29.0 (mIU/mL) and decreased levels of serum testosterone (63.0 ng/dL) upon endocrine study. Both testes were reduced in size on testis ultrasounds and there were no sperm present upon sperm analysis. Under the suspicion of primary hypogonadism, we conducted a chromosome study and the patient was diagnosed with Klinefelter syndrome. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2) ( and ). He started treatment with testosterone enanthate injections and was followed up in the outpatient clinic.