Endocrine Abstracts

Introduction: SOD is a rare congenital anomaly, with an incidence of 1 in 10 000 live births, the adipsic hypernatremia is a rare osmoregulation Disorder observed in SOD.

Case report: We report a case of a 28 months infant, the eldest of a sibling group of 2 children, referred by the pediatrician for exploration of a staturo-ponderal delay. At clinical examination we found a harmonious staturo-ponderal delay and a median line anomaly of development as a single central incisor, ogival palate and a convergent squint. GH deficiency was confirmed in laboratory. Cerebral MRI showed a pituitary stem interruption syndrome with pituitary hypoplasia, an absence of the pituitary stem, an ectopic pituitary gland with infundibular location and an agenesis of the septum pellucidum. At 8 years she presented an important headache associated with vomiting asoociated to a hypernatremia at 185 meq/l, having required rehydration. The diagnostic of adipsic hypernatremia was retained due to the absence of thirst (adipsia) a very high osmolality and a normal urine osmolality concluding to a normal production of AVP. The management is based on the obligation of a daily intake (1,5-2 l/day) of water, an adjustements of these intakes in case of climatic variations or acute illness and regular serum sodium monitoring