Endocrine Abstracts

Background: Increased childhood cancer survival has resulted in an accruing adult cohort faced with potential infertility. Pre-treatment semen cryopreservation can protect reproductive capacity in adolescent minors, but continued unique legal, ethical and educational barriers prevent consistent service provision across the UK. The effect of pubertal maturation, disease and treatment on the ability to produce sperm also remains poorly defined in this cohort. We present our 10-y...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an important cause of primary adrenocortical insufficiency (PAI) in men. It’s characterized by impairment in peroxisomal degradation of very-long-chain-fatty-acids (VLCFA), leading to its accumulation on central nervous system, adrenal cortex and testes.Adrenomyeloneuropathy, the most common phenotype of X-ALD, coexists with PAI in up to 70% cases.Case report: A 28-year-ol...

Introduction: Primary hyperparathyroidism is the most common cause for hypercalcemia. Familial benign hypocalciuric hypercalcemia (FBHH) is an unusual autosomal dominant disease. The mutation in the calcium sensing receptor (CaSR) determines a shift to the right in the calcemia set-point that inhibits PTH secretion. Generally asymptomatic, these patients present with mild hypercalcemia and hypophosphatemia, normal or slightly increased PTH levels and hypocalciuria. Daily calci...