Endocrine Abstracts

Introduction: Klinefelter syndrome is the commonest sex chromosomal disorder in which the normal male karyotype 46XY, has at least one extra X chromosome. The commonest form is the 47XXY aneuploidy. It is characterized by hypergonatrophic hypogonadism, and associated with infertility and cardio-metabolic abnormalities. We report a case of a 36year old man who presented in our Endocrinology clinic in Ngeria.

Case Presentation: A 36year old man who presented with progressive bilateral breast enlargement with small penis of 21year duration. The enlargement in both breasts was of insidious onset, and increased progressively. No associated pain, no galactorrhea. He also noticed diminished size of his penis and testis, but the recent concern of his fiancée made him present at the hospital. There is positive history of decreased libido and erectile dysfunction. No previous testicular injury, and childhood and puberty were reported to be normal. He was not on any chronic medications. There was no family history of endocrine abnormalities. He first presented to the General Surgeon on account of the breast enlargement from where he was referred to the Endocrinologists. Examination revealed a young man with body mass index (BMI) of 33.8kg/m2. He had micropenis, with the testicles measuring 2mls each. No features of Chronic Liver Disease. Hormonal assay- Luteinizing hormone: 11.8(0-12)mIU/ml, Follicular stimulating Hormone: 18.3(0-12)mIU/ml, Testosterone: 1.3(3-10)ng/ml, Prolactin: 21.7(0-17)mg/ml. Blood glucose measurements were repeatedly elevated. Lipid profile also showed hyperlipidaemia. Scrotal scan confirmed small testicles bilaterally. Cytogenic analysis shows 47XXY karyotype. He had counselling done, and he was commenced on antidiabetics and anti-lipid management. He was referred for possible sperm retrieval and storage.

Conclusion: Many patients with Klinefelter’s syndrome remain undiagnosed. Lack of awareness may result in delayed presentation, and may be associated with poor outcome.