A pituitary stalk interruption associated with severe hypoplasia of the olfactory bulb: a case report

Pituitary stalk interruption syndrome, an uncommon cause of growth hormone deficiency and hypopituitarism, is often revealed during the neonatal period and in childhood. The association with Kallmann syndrome (a rare genetic disease, associating hypogonadotropic hypogonadism and anosmia or hyposomnia secondary to abnormal and altered migration of GnRH neurons) is very rare. We report the case of a 13-year-old child admitted for stature-weight delay with no particular neonatal history. Clinical examination revealed severe growth retardation with micropenis. The hypophysiogram showed complete hypopituitarism with diabetes insipidus. Hormone replacement therapy was administered to our patient. The association of the two pathologies, pituitary stalk interruption syndrome and Kallmann's syndrome (agenesis of the olfactory bulbs), suggests the possibility of a common genetics and pathophysiology, hence the need for further research in this field