1Endocrinologia Pediatrica, Ospedale Infantile Regina Margherita, Città della Salute e della Scienza, Torino
2Pediatra ASL TO 4
Indirizzo per corrispondenza: firstname.lastname@example.org
Key words: Congenital hypopituitarism, Hormonal substitutive treatment, Disabilities
A lot of genes govern pituitary gland development, differentiation and function. Mutations in those genes, as well as toxic or infective intrauterine noxae, could derange pituitary gland development, differentiation and function. More precocious is the damage or more extended the genetic mutation, more severe will be the anatomical defect of hypothalamo- pituitary axis and consequently clinical and hormonal picture of congenital hypopituitarism. Hormonal deficiencies can be present at diagnosis in more severe disease or can develop later in life. For this reason, follow up is mandatory in children affected by congenital hypopituitarism. Frequently, congenital hypopituitarism is associated with some disabilities (severe obesity, neuromotor impairment, visual damage, all of them due to midline malformations) that could worse the clinical outcome. Precocious detection and substitutive treatment of hormonal deficiencies, multidisciplinary care, patient/ family education, especially in particular moments of life, as at the transition from paediatric to adulthood structures, are necessary to improve quality of life in children affected by congenital hypopituitarism.
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