Endocrine Abstracts

Several observations brought reported a big frequency (12–50%) of pituitary insufficiency and abnormalities of the median line. The endocrine disorders are hypothamic origin and come along of pituitary ontogeny in more 30% of the cases. These abnormalities are associated with a defect of the embryological development of the bird nasofrontal which allows the development of various regions of the encephalon and the face. We report the observations of two boys KY 18 years old and 1 year old who presented to the birth a typical syndrome malformed of the median line (labiopalatine, flate nose, cleft lip, umbilical hernia and signs of gonadotropin deficiency: micropenia with bilateral cryptorchidism. The abnormalities did not noticed by a doctor until the age of 10 and 2 years old respectively. The two boys had severe short stature (−6 SDS and −3 SDS respectively). The hormonal assessment highlighted a GH deficiency. Surgical correction was performed however the medical treatment by rGH was possible only height years later for KY and 2 years later for the other boy. The evolution is marked by the apparence of a thyreotrop insufficiency and insipid diabetes in KY.

The existence of abnormalities of the median line at a child must be considered as a marker and introduce endocrine and neuroradiology investigations as well as long term follow. The appearance of the speed of growth,or signs of pituitary insufficiency need revaluation.