ODP113 Presentation of two similar Klinefelter Syndrome cases with different clinical outcomes

Abstract

Abstract Case 1 74-year-old Caucasian male with dysphagia, s/p laryngeal carcinoma, partial laryngectomy and past radiotherapy, was referred for breast enlargement with some increase over the last few years. He denied tenderness or breast discharge, but reported bilateral testicular atrophy, which he attributed to agent orange red exposure. Although married for 53 years, he did not have biological children. He had decreased libido, and denied testicular trauma, urinary symptoms, or history of infections, opiate, steroids abuse, or OTC herbal supplements. Pituitary MRI for head injury was normal. Physical exam-HT= 180.3 cm; 172 cm arm span, bilateral testicular atrophy. Laboratory findings: [PO4= 3.2mg/dL (2.5-4.9); Calcium=9.2 mg/dl(8.5-10.1);Magnesium =2.1 mg/dl(1.7-2.4); Vit D,25 OH=52.9 ng/mL (30–100); PTH =54.9 pg/ml (18.4-80.1),;FSH =41.7 mIU/mL(0 .7-10.8); LH=27.5 mIU/mL (1.2-10.6);Prolactin=4.5 ng/mL(2.5 -7.4); total Testosterone 81 ng/dL (250–1100); free testosterone 4.5pg/mL (30. 0-135. 0); Sex HBG 63 nmol/L (10–57); Estradiol <11.80 pg/mL(<11-39.8); Tumor marker BHCG <2mIU/mL (<5 mIU/ml; Cortisol, am=15.5 ug/dl (5.3-22.5);PSA=.260 ng/mL (0. 0- 4. 0)]. Karyotype analysis=47, XXY [15]/46, XX[5]. With supernumerary X chromosome, consistent with KS. DXA= osteopenia in AP spine and severe osteoporosis in other areas: femur neck left T-Score of -3.1. Right femur neck T-Score=-3. 0, total left femur T-Score= -2.9, right total femur T-Score of -2.9, left forearm radius 33% T-Score=-2.8. Mammogram: mild bilateral gynecomastia, L>R, Testosterone supplementation and intravenous zoledronic acid therapy were started. Case 2 74-year-old Caucasian male referred for low energy, generalized weakness, decreased libido and gynecomastia, long thin arms/legs and "difficulty building muscle". He was taking OTC "testosterone enhancers" herbals only. He reported no biological children. Physical exam: height 187.3 cm, with sparse body hair, absent facial hair, gynecomastia, small testes. Laboratory: [total testosterone=40 ng/dl; free testosterone=5.2 pg/ml; SHBG=40 nmol/L;LH=16.1 mIU/ml; FSH=31.8 mIU/ml; Prolactin=4.3 ng/ml; BHCG <3 mIU/ml; Estradiol=33.60 pg/m] Karyotype: mosaic KS 47, XXY[16]/46,XY[4] with additional X chromosome in 16/20 metaphase cells. DXA =normal bone density. Clinical symptoms and testosterone levels improved after starting testosterone supplementation. Discussion Hypogonadism is an important cause of male osteoporosis. Testosterone is known to regulate male bone metabolism both indirectly by aromatization to estrogens and directly through the androgen receptor on osteoblasts, promoting periosteal bone formation during puberty and reducing bone resorption during adult life. Early onset testosterone deficiency, as in KS, is an important risk factor for osteoporosis, although it is seen in only 40% of patients. Aromatization of testosterone into estradiol from adiposity, may also contribute to normal BMD in some patients. Therefore, it is important to recognize that osteoporosis is not always present in all Klinefelter's patients, even without testosterone therapy and that various phenotypes may account for discrepant conditions, as in these cases. Presentation: No date and time listed