Endocrine Abstracts

Background: In spite of being the most frequent genetic form of male hypogonadism, Klinefelter’s syndrome is not so rarely undiagnosed until adulthood. As the severity of manifestations in Klinefelter’s syndrome is proportional to the number of additional X chromosomes, they seem less severe and aparent in its classic form, with a 47,XXY karyotype than in cases of this syndrome with mosaicism and other variants.

Case report: A 25-year-old male was refered for endocrinological evaluation by urologist because of the chronic testicular pain preventing effective testosterone replacement of already proven hypogonadism. The physical examination revealed normal height, long limbs, muscular weakness, and reduced or completely absent hair in the androgen-dependent regions. There are clinical signs of testicular dysgenesis. Hormone measurements were as follows: ACTH, 37.74 pg/ml; cortisol, 505.9 nmol/l; TSH, 1.81 μIU/ml; fT₄, 15.15 pmol/l; LH, 31.78 mIU/ml; FSH, 53.39 mIU/ml; free testosterone, 5.0 pg/ml; PRL, 519.9 mIU/l; and vitamin D, 21.25 ng/ml. MRI demonstrated a profound arachnoid recessus hustling the pituitary toward the dorsum of the sella turcica. Densitometry showed osteopenia with the L1–L4 T-score of −2.7 and the hip T-score of −2.1. Assessment of the karyotype point out to the classic, 47,XXY form of Klinefelter’s syndrome and testosterone replacement was initiated with the close follow-up of its effects.

Conclusions: The case presented demonstrates a classical form of the Klinefelter’s syndrome with not so classical presentation of testicular pain which halted the correction of proven androgen deficiency. Coexistant empty sella with hyperpolactinaemia demand further periodical reassessment.