Francisco Carvajal Martínez

Síndrome de Noonan. Presentación de un caso

The term Turner syndrome in male has been applied to males with certain typical anomalies of this dysfunction and a normal karyotype. Know by a variety of names of which Noonan syndrome is the most common. The cause is unknown, and although this dysfunction is sporadic, the partial expression of the syndrome, present in closer relatives suggests pattern of Mendel heredity that leads to congenital heart diseases, ocular and vertebral defects, as well as a wide range of gonad disorders which vary from cryptorchidism and hypogonadism, to seemingly normal sexual development. The associated hypothyroidism can contribute to the failure of the growth and intellectual development. As it appears rarely in clinical practice, we present aspects for the positive diagnosis of Noonan syndrome in an 11 year old South American patient, with low stature and failed orchiopexy, in whom it was possible to confirm growth hormone deficiency without hypothyroidism and start hormone replacement treatment, as well as correcting the substitute hormonal treatment, besides correcting the cryptorchidism. It is essential to look for genetic malformations when studying gonad defects and growth dysfunction.