Diagnosis and management of congenital pituitarydeficiency in pediatrics

摘要

Hypopituitarism is a rare disease with an approximate prevalence of 1/16,000-1/26,000. It is defined by a deficiency of one ormore anteropituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), in some cases associated with diabetesinsipidus (ADH deficiency). In adults it is most often acquired (tumors, irradiation, etc.), but in children it is more frequentlycongenital due to abnormalities during pituitary development. The clinical presentation is highly variable, ranging from an isolateddeficiency to multiple deficiencies, in some cases linked to a syndromic form. The warning signs are often not very specific andshould not be underestimated. The diagnosis is supported by a set of findings including clinical, laboratory, radiological (brain MRIwith specific sections of the hypothalamic-pituitary region), and genetic (NGS panel of pituitary developmental genes ± CGHarray ± genomic analyses) signs. Brain MRI is the key examination to be performed promptly on newborns or in cases of severehormonal deficiencies in order to exclude differential diagnoses and to evoke a syndromic form. The treatment encompassessubstitution for each deficiency. Follow-up must be maintained throughout life, including adulthood, by a multidisciplinary teamparticularly for a syndromic type or associated comorbidities. The goals of treatment are to correct the symptoms, preventcomorbidities and acute complications, and optimize social and educational integration.