Beschreibung drei neuer endokrinologischer Syndrome

by Krude, Heiko

In the last few years'' three new genetic syndromes were described which affect diseases within the field of paediatric endocrinology. The clinical picture of uncommon patients, which are affected beside known endocrine defects by additional associated symptoms, led to the molecular differential diagnosis which resulted in the description of new mutations. In all three cases the additional symptoms could be explained by the identified genetic defect. Meanwhile additional patients were identified with mutations in the affected genes, which confirmed the initial description of the new clinical diseases. The identified syndromes are: POMC gene defect (clinical picture: obesity, red hair, hypocortisolism), LHX3 gene defect (clinical picture: hypopituitarism and decreased neck movement) and NKX2.1 gene defect (clinical picture: congenital hypothyroidism and choreoathetosis).