Endocrine Abstracts

A 19 year old Bangladeshi male attended ED with a fractured finger. He was noted to have a severely delayed bone age of 13.5 years, and no facial hair. He had moved to the UK aged 11 and could recall little information regarding his childhood or his parents. He had no significant medical co-morbidities, and in particular no history of mumps, measles or testicular injury. He reported being the shortest in his class, and being unable to keep up with his classmates in physical activity. He had never had nocturnal penile tumescence. On assessment in the endocrinology clinic, he had no dysmorphic features and his voice was unbroken. He was 146 cm tall, and weighed 38.3 kg (BMI 18). His target height was 170 cm, based on an estimated mid-parental height. He was Tanner stage 1, with a testicular volume of 2.5 ml and a penile length of 2.5 cm. He had no facial, pubic or axillary hair. An MRI pituitary scan demonstrated pituitary hypoplasia with hypoplastic pituitary stalk and an ectopic posterior pituitary gland posterior to the optic chiasm. Initial blood tests demonstrated hypopituitarism: TSH 4.04 mlU/L (NR 0.27–4.20 mlU/L), LH <0.3 IU/L (NR 1.7–8.6 IU/ L), FSH 0.6 IU/L (1.5–12.4 IU/L), SHBG 80 nmol/L (NR 15–48 nmol/L), free testosterone <0.1 nmol/L (9.9–27.8 nmol/L), androstenedione <1.1nmol/L (NR 1.4–9.1 nmol/L), DHEAS <0.4 umol/L (NR 2.2–15.2 umol/L), cortisol 54 nmol/L (NR 171–536 nmol/L), prolactin 430 mlU/L (NR 86–324 mlU/L). The results from a short synacthen test confirmed adrenal insufficiency. He was diagnosed with congenital hypopituitarism with pubertal delay secondary to pituitary hypoplasia. He was commenced on oral hydrocortisone, levothyroxine and Adcal D3. When reviewed three months later, he reported significant improvement in his energy levels, and was initiated on Growth Hormone therapy which was gradually up-titrated. Prior to optimisation of therapy, baseline medical photographs and bone turnover markers were measured. In order to identify a growth spurt - and therefore the optimal time to initiate testosterone replacement - his height was measured every 4 weeks. After one year of treatment, he had grown by 5 cm, and he was commenced on testosterone replacement therapy. After 8 months of treatment, his testosterone level reached 15.2 nmol/L with a stable PSA and Hb. At three years since diagnosis he reports good energy levels, mood and sexual function. His testosterone level is now satisfactory at 17.5 nmol/L. Ectopic posterior pituitary is due to abnormal development of the pituitary gland and stalk, resulting in hypopituitarism. This diagnosis should be considered as part of the differential in the adolescent presenting with hypopituitarism.