RESUMEN
Patients with a PROP1 inactivating mutation present combined pituitary hormone deficiency (CPHD) and pituitary maldevelopment. A retrospective analysis of 31 CPHD patients with a PROP1 mutation revealed two individuals, aged 18 and 4.5 years, who had undergone subtotal surgery to remove pituitary tumors, 16.8 x 12 mm and 9 x 10 x 12 mm in size. Histological reassessment of tissue samples revealed epithelial cells, partially oxyphilic, forming gland-like microcystic structures, most of them filled with eosinophilic colloid. These structures were directly linked with fragments of the posterior lobe. Neither atypia nor any traces of proliferation activity (Ki-67 LI=0%) were noted. Immunohistochemistry showed the presence of all hormonal phenotypes of cells. These findings corresponded to the intermediate lobe of the pituitary gland. For this type of pathology we propose the term 'cystic hyperplasia of the intermediate pituitary lobe' and suggest PROP1 gene assessment in patients with CPHD in order to avoid unnecessary neurosurgical interventions.
Asunto(s)
Quistes/patología , Proteínas de Homeodominio/genética , Hipopituitarismo/patología , Adenohipófisis Porción Intermedia/patología , Adolescente , Adulto , Quistes/metabolismo , Quistes/cirugía , Femenino , Humanos , Hiperplasia , Hipopituitarismo/genética , Hipopituitarismo/metabolismo , Hipopituitarismo/cirugía , Imagen por Resonancia Magnética , Masculino , Adenohipófisis Porción Intermedia/metabolismo , Adenohipófisis Porción Intermedia/cirugía , Hormonas Hipofisarias/metabolismo , Estudios RetrospectivosRESUMEN
Crouzon syndrome is a cranio-facial dysostosis with autosomal dominant transmission and a birth prevalence of 16.5 per million newborns. Up till now there is no publications in polish medical journals about ultrasonic diagnosis of Crouzon syndrome or of any other craniostenosis. The development of ultrasonography, three-dimensional ultrasonography and in the last years also MRI, allows earlier detection and diagnosis of fetal malformation and enables precise evaluation of his anatomy. The aim of the study is presentatoin Crouzon syndrom diagnosed prenatally by ultrasonography and confirmed moleculary by DNA analysis. We would like to stress the diagnostic problems and the difficult decisions that we encountered.