Endocrine Abstracts

A 29 year old gentleman was referred for investigation of subfertility and hypogonadism. He gave a history of normal erections and libido but had never shaved in his life. Though he denied anosmia, his maternal uncle had a poor sense of smell and his great uncle had needed to adopt children. He was markedly undermasculinised with micropenis and an empty scrotal sac. Neurological assessment showed subtle features of bimanual synkinesis (mirror movements), suggesting X-linked Kallmann’s syndrome from a defect in the KAL-1 gene. Gonadotrophins and testosterone were unmeasurable but MRI brain did not reveal olfactory bulb hypoplasia. Abdominal MRI showed an absent prostate gland and seminal vesicles with minimal extra-scrotal testicular tissue. Given his desire for fertility he was commenced on HCG, which resulted in a marked testosterone rise, followed by FSH, which has not yet corrected his azoospermia. Repeat MRI has demonstrated the appearance of prostatic tissue and seminal vesicles together with significant penile and testicular growth, as well as testicular descent to the scrotal sac. KAL-1 analysis is normal but defects are being sought in the FGFR1 gene.

Our case illustrates the importance of a neurological examination in the investigation of hypogonadism but shows that synkinesis can no longer be considered pathognomonic of KAL-1 dysfunction. Furthermore, restoration of gonadal function and development may be possible in hypogonadotrophic hypogonadism even when the baseline anatomy is unfavourable, though full recovery of fertility may take considerable time.