47 XXY/46 XY Mosaic Klinefelter's Syndrome Presenting with Multiple Endocrine Abnormalities.

Abstract

Wereport here a rare case of 47 XXY/46 XYmosaic Klinefelter's syndromeassociated with multiple endocrine disorders. A 35-year-old male admitted for the evaluation of renal dysfunction and recurrent bone fractures was diagnosed as having Klinefelter's syndrome by endocrinological examinations and sex chromosomeanalysis. He has suffered from diabetes mellitus for morethan ten years. The serum FSHand LH levels were high together with low free testosterone and estradiol levels. There was a discrepancy between basal serum GHand somatomedin-C levels. On admission, thyroid function revealed thyrotoxicosis with low radioactive iodine uptake and negative thyroid autoantibodies. During hospitalization, serum FT3 and FT4 levels were gradually decreased and serum TSHlevels became elevated, leading to the diagnosis of subacute thyroiditis. Serum ACTH levels showed high basal levels with delayed, exaggerated responses to insulin-induced hypoglycemia. Rapid ACTHtest (1 24ACTH0.25 mg) showed low cortisol responses and many of the adrenocortical steroids in plasma and urine were low or low normal. Furthermore, bone mineral density (BMD) by DEXAshowed marked osteoporosis. Possible mechanisms underlying these varied endocrine disorders remain to be elucidated. (Internal Medicine 35: 396-402, 1996)

Klinefelter syndrome: Expanding the phenotype and identifying new research directions

“…Chronic estrogen stimulation may also increase antibodies related to Sjögren syndrome and systemic lupus erythematosus. Other reported disorders include thyroiditis 32 and rheumatological disorders. 33 A long recognized association between 47,XXY Klinefelter syndrome and leg ulceration and varicosities exists, 34 possibly related to an increased propensity to clotting.…”

Erythropoietin‐resistant anaemia in a predialysis patient with Klinefelter syndrome

“…Patients with Klinefelter syndrome tend to have an increased risk of developing male breast cancer and mediastinal germ cell cancer 13 . Some patients also have accompanying endocrine disorders involving the pituitary gland and thyroid 12 . Furthermore, Klinefelter syndrome is accompanied by diabetes mellitus in 39% of Western patients, 12 and this characteristic was present in the current patient, who had suffered from severe diabetes mellitus and retinopathy for a long time.…”

“…Klinefelter syndrome is a congenital disorder in men marked by a 47, XXY karyotype. It is characterized by gynaecomastia, hypogonadism, aspermatogenesis, and increased gonadotropin secretion 12 . Patients with Klinefelter syndrome tend to have an increased risk of developing male breast cancer and mediastinal germ cell cancer 13 .…”

“…It is characterized by gynaecomastia, hypogonadism, aspermatogenesis, and increased gonadotropin secretion. 12 Patients with Klinefelter syndrome tend to have an increased risk of developing male breast cancer and mediastinal germ cell cancer. 13 Some patients also have accompanying endocrine disorders involving the pituitary gland and thyroid.…”

A Patient With Thyroid Hemiagenesis and Klinefelter Syndrome

“…K linefelter syndrome (46, XXY) is the most common cause of male hypogonadism and can be associated with other endocrinologic abnormalities such as diabetes mellitus, 1,2 osteoporosis, 1 adrenal insufficiency, 2 hypothalamopituitary-thyroid or adrenal axis disorders, [1][2][3][4][5] and various thyroid diseases. 1,6 -10 The pathogenesis of these disorders in patients with Klinefelter syndrome is not known.…”