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Endocrine Abstracts (2014) 35 S2.3 | DOI: 10.1530/endoabs.35.S2.3

ECE2014 Symposia Pituitary development from basic research to clinical practice (3 abstracts)

Management of adult patients with disorders of pituitary development

Darko Kastelan


Department of Endocrinology, University Hospital Zagreb, Zagreb, Croatia.


Pituitary development involves a number of genes encoding signaling molecules and transcription factors. Genetic mutations of any of these factors are implicated in the aetiology of congenital hypopituitarism. The phenotypes of patients with pituitary development disorders might be highly variable depending on the type and severity of deficiencies and the age of diagnosis. A diagnosis of congenital pituitary hormone deficiency must be suspected when other causes of hypopituitarism have been ruled out. Detailed clinical, biological, and radiological work-up is important in those patients. A close long-term follow-up is warranted since patients may eventually develop new hormone deficiencies as is the case in the late onset corticotroph deficiency in patients with PROP1 gene mutations. Likewise, other anterior pituitary axis may also show progressive deterioration with time. If untreated, the main symptoms of congenital hypopituitarism are: short stature, delayed puberty, metabolic syndrome, and cognitive problems. Unlike the other causes of hypopituitarism, corticotroph deficiency in patients with congenital hypopituitarism is frequently asymptomatic. Hypopituitarism has been linked to a decreased quality of life and increased morbidity/mortality due to cardiovascular and cerebrovascular diseases particularly in patients who are not substituted with GH. Therefore, an appropriate hormone replacement is required. In general, long-term prognosis of patients with congenital hypopituitarism is equivalent to the prognosis of those without pituitary deficiencies if treatment is started immediately after the diagnosis is established. However, a few studies demonstrated normal or prolonged lifespan in patients with congenital hypopituitarism even if the hormonal deficiencies were not adequately substituted.

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