Endocrine Abstracts

We report a 17-year-old male who presented with symptoms of absent secondary sexual characteristics, decreased appetite and infrequent non-specific abdominal pain. He had no complaints of headache, altered sense of smell or colour blindness. His other siblings had normal growth.

On examination, he had normal male body habitus, height (157 cm), no gynaecomastia, axillary and beard hair (tanner stage 1) pubic hair (tanner stage 2), testes (12 ml bilaterally). It was felt that he was in mid-puberty and it was anticipated that sexual maturation will continue spontaneously.

He was reviewed 12 months later, when he complained of occasional diarrhoea. His height was 165 cm, voice had broken, shaved thrice-weekly and was not sexually active.

Laboratory results revealed microcytic iron deficiency anaemia (Hb – 6.3 g/dl), hypogonadotropic hypogonadism (testosterone – 3 nmol/l (normal: 11–40 nmol/l); LH – 0.8iu/l (normal: 1–8 iu/l); FSH – 3.0iu/l (normal: 1–8 iu/l)) and 46XY on chromosome analysis. He was commenced on treatment with iron tablets and a barium meal follow through study demonstrated extensive crohn’s disease which was not resectable surgically. Histology confirmed the diagnosis and azathioprine treatment was initiated alongside ferrous sulphate. Twelve months after starting treatment, his testosterone level had risen to 14.9 nmol/l. Interestingly two years later, his height was 171 cm (target range: 162.5–182 cm), voice was deeper; he was getting erections and was sexually active with testicular volumes of 25 ml bilaterally.

Delayed puberty can be a complication of underlying inflammatory bowel disease in such young patients. Hypogonadism can be an early sign and manifestation of a relatively asymptomatic underlying condition. Although systemic diseases are well recognised to cause hypogonadotropic hypogonadism, this is often less commonly perceived. Delay in the diagnosis and management can delay the onset of puberty indefinitely with potentially catastrophic consequences indeed on the pubertal growth spurt with a reduction in final adult height. Testosterone levels often return to normal after recovery from underlying disease.