Endocrine Abstracts

Klinefelter syndrome is the most common genetic cause of primary hypogonadism in men. Upto 80% have karyotype 47 XXY. It can present with a wide range of phenotypical and biochemical abnormalities. It is also known to be associated with certain autoimmune diseases. We describe a rare case of Klinefelter syndrome with partial hypopituitarism and suggest screening with full pituitary profile plus dynamics tests at first presentation if clinical suspicion is high. A 36 year old male was having infertility work up and incidetally found to have micro orchidism. Subsequent biochemical assays show mildly raised FSH, LH and normal testosterone level and azoospermia on semen analysis. There were no symptoms of adrenal insufficiency initially but 9 am cortisol was low at 108 nmol/L. Prolatin, TSH and IGF1 were with normal limits but Synacthen test was slightly suboptimal with cortisol level of 429 nmol/L at 30 minutes and 487 nmol/L at 60 minutes. However patient was symptomatic hence Insulin stress test was performed which mounted a suboptimal cortisol response with a peak of 370 mmol/L (normal >450 mmol/L) despite adequate and symptomatic hypoglycemia of 1.6 mmol/L indicative of ACTH deficiency. Growth hormone deficiency was revealed with a peak response of 0.16 mmol/L (normal >6.6 mmol/L). Karotyping confirmed diagnosis of Klinefelter Syndrome along with Growth hormone and ACTH deficiency. Patient was initiated on adequate replacement therapy with Growth Hormone and Hydrocortisone with good response and referred to fertility clinic. Klinefelter syndrome with partial hypopituitarism is rarely been described in the literature. It is unclear how these conditions could be linked to each other and more studies and case reports will be needed to establish a link. We recommend performing panel of pituitary profile and subsequent dynamic testing in symptomatic patients with new diagnosis of Klinefelter Syndrome.