Endocrine Abstracts

Background: Klinefelter Syndrome (KS) affects approximately 1 in 500 males and presents with different phenotypes. KS affects spermatogenesis and causes infertility but can also impact neurocognitive and psychological development or affect other systems like cardiovascular, dental, skeletal. European Academy of Andrology has published recommendations regarding holistic KS management, including the fertility aspects, from childhood until adulthood.

Objectives: This project aims to examine the current management of children and young people (CYP) with KS in a paediatric tertiary hospital with a focus on fertility.

Methods: We audited our practice against European Academy of Andrology Guidelines on KS. All the patients with KS were identified and their hospital electronic records were used to extract data retrospectively.

Results: We identified 32 patients with KS. The mean age for referral to endocrine service was 10.5 years and to the andrology service was 13.6 years. Growth and development were monitored closely in all the patients (100% had weight, height and physical examination performed regularly). Majority of cases (75%) had hormonal profile (LH, FSH, testosterone) regularly monitored and in 56% of cases AMH and inhibin B were performed as well. Vitamin D levels and bone profile were checked in 37% of patients. Fertility was discussed in 76% of the cases. Testosterone was offered to 15/32 (46%) patients and the main indication was induction of puberty. Semen analysis was offered in 9 patients who were progressing with puberty spontaneously and were not on testosterone therapy but only 7 accepted the procedure. Only 1/7 patients were eligible for cryopreservation and 6/7 were offered microTESE (mTESE). Educational problems were identified in 53% of cases, speech, and language problems in 65% and psychosocial problems in 68%. Genetic counseling was offered in 40% of cases.

Conclusion: Patients with KS have various needs including fertility support. Management in an MDT setting including endocrinologist, fertility specialist and psychologist is essential and can enhance individualized care and optimal management of the patient with KS and their family.