Endocrine Abstracts

We present the case of an 18-year-old boy with phimosis who was referred by the urology team as he had low levels of testosterone. Clinical evaluation revealed that he had normal pubertal growth spurt and was 183 cm tall. His sense of smell was impaired and voice was high pitched. Examination revealed no facial hair, scanty pubic and axillary hair. He had bilateral gynaecomastia, phimosis and micropenis (1.0 cm). The testes were small and soft in consistency (right 2.0 and left 1.0 ml).

Investigations revealed testosterone 0.7 nmol/l (nr 8.0 – 34.0), LH 0.2 IU/l (1.0–7.0) and FSH 0.8 IU/l (1.0–6.0). Ferritin, prolactin, oestradiol, IGF1, thyroid function tests and Short Synacthen test were normal. MRI pituitary and karyotype (46XY) were normal. He underwent surgery to correct phimosis and further investigations revealed duplex right renal collecting system and single joint ureter. A diagnosis of anosmic hypogonadotrophic hypogonadism (Kallmann syndrome) with renal anomalies was made.

He was initiated on testosterone gel and later switched to testosterone undecanoate, 1000 mg 12 weekly. Treatment resulted in growth of facial and body hair and his voice broke. There was no change in the size of external genitalia. This case highlights the importance of considering Kallmann syndrome in the presence of renal tract anomalies including phimosis.

Conclusion: The case report highlights the importance of considering Kallmann syndrome in young men with renal anomalies.