Endocrine Abstracts

Introduction: In spite of great progress in Endocrinology, even today Klinefelter’s syndrome remains an under diagnosed or late diagnosed chromosomal disorder as is evident from the three case reports below.

Case 1: A 79 years old man admitted with exacerbation of COPD, was noted to have bilateral Gynaecomastia, feminine features, very small scrotum without testes and a small penis. Throughout his life he remained isolated and single. Scrotal ultrasound showed testicles in inguinal canal.

Case 2: A 62 years old gentleman with diagnosis of PE was noted to have bilateral Gynaecomastia, small testes. He was married, had no children and has extensive investigations for infertility, no cause found. He had history of low trauma ankle fracture.

Case 3: A 75 years who was referred to endocrine clinic with mild hypercalcaemia, which resolved after stopping calcium medication. He had osteoporosis with multiple vertebral fractures. He had typical Klinefelter’s features, bilateral Gynaecomastia and small testicles. He was socially isolated, never had a partner and even could not enjoy swimming because of embarrassment caused by his Gynaecomastia.

In all hormone profile revealed primary hypogonadism and 1 and 2 had 47XXY and 3rd was a mosaic with 47XXY/46XY karyotype. All were put on testosterone replacement.

Discussion: Klinefelter syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical features and insufficient professional awareness of the syndrome as in our cases. It is associated with increased risk of germ cell tumours, breast cancer, metabolic syndrome and cardiovascular morbidity and mortality. Early recognition and hormonal treatment can improve quality of life, prevent serious consequences and even many can achieve successful fertility with advanced techniques. And for early diagnosis professionals need to be more aware and keep high index of suspicion.