Endocrine Abstracts

Congenital morphological alteration of anterior and/or posterior pituitary lobes is a rare disease often associated with isolated or multiple hormonal deficiency. In this study we re-evaluated 24 adult patients, 20 males and 4 females, (23–46 years), in whom Nuclear Magnetic Resonance (NMR) showed congenital morphological alteration of the gland. Twenty out of 24 patients presented with an association of hypoplasic adenohypophysis and ectopic neurohypophysis, while 4 presented with hypoplasic adenohypophysis and undetectable neurohypophysis as by NMR. All patients are currently under hormonal replacement therapy. Fourteen out of 24 patients were panhypopituitaric (58.3%); 3 presented with multiple GH, LH-FSH, TSH deficit (12.5%); 2 with GH and combined LH-FSH deficit (8.3%); 2 with isolated GH deficit (8.3%); 1 with combined GH, ACTH, TSH deficit (4.2%); 1 with multiple GH, LH-FSH, AVP deficit (4.2%); and 1 with isolated AVP deficit (4.2%). Anthropometric parameters showed that 11 patients are overweight (BMI 25–29.3), and 4 obese (BMI 31.5–34.6). Biochemical evaluation showed that 9 patients were hypercolesterolemic (37.5%), 7 were hypertrygliceridemic (29.2%), and 4 patients presented with low levels of HDL-colesterol (16.7%); other metabolic or biochemical parameters were not significantly altered. Epilepsy has been recently observed in 2 of these patients presumably associated with a novel radiological findings of areas of subependymal heterotopia. In conclusion, the association of hypoplasic adenohypophysis and ectopic or undetectable neurohypophysis are congenital conditions frequently associated with single or multiple hormonal deficits. The etiopathogenesis of these conditions is still unknown, and our preliminary genetic observation seem to exclude that HESX1 or PROP1 mutations play a role in these congenital malformations (11 out of 24 patients were tested and no mutations were found for both genes). Moreover, periodic long-life radiological monitoring of the brain is necessary to detect areas of subependymal heterotopia in order to pharmacologically prevent epilepsy.