Endocrine Abstracts

We report the case of a 20 year old male referred to Endocrine clinic with short stature and delayed puberty. He sustained a distal radial fracture, subsequently classified Salter-Harris type 2, following a fall onto his outstretched hand whilst intoxicated. Plain radiographs demonstrated skeletal immaturity with open epiphyseal plates. His height, 162.8 cm, was notably less than his 2 older brothers, and his younger sister. His mother achieved a height of 163 cm and his father 188 cm. He would therefore be estimated to achieve a height of 182 cm, or at least 172 cm. He reported that his libido was fine, and he had no difficulty achieving erections or ejaculation. He had no headache or visual symptoms. He had no personal medical history except for the fracture. There was no history of trauma to the head or testicles. He was not taking any regular medications. Educational attainment had was acceptable, and he is employed as an apprentice data engineer. He had a family history of a brother with bladder exstrophy with no associated genetic abnormalities. On assessment in clinic he was noted to have sparse pubic hair, with a complete absence of coarse hair on the jaw, axillae, limbs, chest and abdomen. He had bilateral gynaecomastia. Testicles had descended normally into the scrotum and had a volume of 20 mls. He did not have any evident features of Cushing’s. Given the presenting complaint and findings of incomplete secondary sexual characteristics, he was investigated for delayed puberty. Hormone testing revealed a low-normal total and free testosterone, with low-normal FSH & LH. Random cortisol was non-reassuring, but a short Synacthen test excluded steroid insufficiency. Thyroid function, IGF-1, prolactin, calcium, renal function & electrolytes and haemoglobin concentration were all normal. Coeliac screen was negative and vitamin D level was mildly low. MRI pituitary demonstrated a normal pituitary gland. Insulin tolerance test demonstrated a peak growth hormone level of 4.4 µg/l suggesting partial growth hormone deficiency. The patient has been referred to clinical genetics for counselling and genetic testing to look for an underlying cause of hypogonadotrophic hypogonadism. He will be reviewed in clinic to discuss hormone replacement therapy.