Endocrine Abstracts

The European Academy of Andrology (EAA) recently published consensus guidelines aiming to standardize the care provided to patients with Klinefelter syndrome (KS) across different stages of development. In this retrospective cross-sectional study, we reviewed the clinical care provided to 76 KS patients at Nottingham University Hospitals between 2000 and 2020.

Methods: Data regarding age at presentation (n=30 paediatric, adult 46), presenting complaints, treatment and screening for co-morbidities were collected.

Results:

•The mean age at KS diagnosis was 25.8±15.5 years.

• The most common presenting symptoms were developmental delay and behavioural disorders in the under-five (40%), 6–10 years (67%), and 11–18 years (35%). Absence of secondary sexual characteristics was a leading complaint in 25% aged 11–18 years and 4% of adults.

• Sexual dysfunction (33%), infertility (57%), and gynecomastia (31%) were the chief symptoms observed in adults. Urological symptoms, bone health issues, and easy fatigability were less common.

Testosterone therapy:

• The mean age at initiation of testosterone was 29.45±16.05 years.

• At the time of diagnosis, the mean levels of FSH, LH, and testosterone were 29.3±19 IU/L, 14±10 IU/L, and 6.3±4.5 nmol/L, respectively.

• The choice of preparation at initiation depended on the availability (gel in 33%)

• Adverse effects included male pattern baldness, nausea, leg cramps, and mood swings.

• Two patients had elevated PSA levels, and one was diagnosed with prostatic carcinoma.

Follow-up:

• Regular endocrine follow-up was noted in 45%.

• Multidisciplinary team (MDT) assessment was provided to 50% of patients (100% in the 6–10 years)

• Community paediatricians saw 33% of the cohort.

• Amongst the adults, 21% were discharged from endocrinology to primary care.

Comorbidity screening:

• 50% of paediatric patients were screened for hypothyroidism.

• 56% of adult men were screened for metabolic complications, 22% had a lipid profile, 44% were screened for bone health, and 80% had thyroid function tests.

• Only 11% of the study population underwent cardiac evaluation at the time of diagnosis.

Our study results corroborate the under-diagnosis and under-treatment of KS and its related morbidities and substantiate the EAA guidance recommendation for establishing standard care for KS children and adults in multidisciplinary networks.