Pediatr. praxi. 2017;18(2):131-134 | DOI: 10.36290/ped.2017.081

Delayed puberty and gynaecomastia as manifestations of Klinefelter syndrome

MUDr. Ondřej Veselý^{1, 2, 3}

1Dětská endokrinologická ambulance, Svitavská nemocnice, Nemocnice Pardubického kraje, a. s., 2Dětská endokrinologická ambulance, Dětská klinika FN Olomouc, 3Dětská endokrinologická ordinace, SPEA Olomouc, s. r. o.

A case is presented of a 14-year-old boy referred for evaluation of gynaecomastia and delayed puberty. In addition to mild gynaecomastia,

there was a clinical finding of discrepancy between small, firm testicles on one hand, and developing pubic hair

on the other hand. The laboratory presentation of hypergonadotropic hypogonadism with a disproportionate elevation of FSH

over LH reinforced the suspicion of Klinefelter syndrome that was subsequently confirmed by karyotype testing. Testosterone

replacement therapy was commenced that favourably resulted in a gradual development of secondary sex characteristics. This

treatment, however, does not address the issue of infertility; therefore, the patient and his family were provided basic information

on the options of assisted reproduction. The gynaecomastia resolved spontaneously. The patient was educated on the importance

of breast self-examination because of an increased risk of developing breast carcinoma in Klinefelter syndrome.

Keywords: gynaecomastia, delayed puberty, Klinefelter syndrome

Received: August 16, 2018; Accepted: September 19, 2018; Prepublished online: September 19, 2018; Published: May 1, 2017  Show citation