title: Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.
abstract: We describe a 23-yr old woman with congenital combined pituitary hormone deficiency (CPHD) diagnosed at 10 years of age and a large sellar mass discovered at the age of 19 years, when her first pituitary MRI was performed. The mass (height: 13 mm) extended to the suprasellar region, close to the optic chiasm, showed signal hyperintensity in T1- and hypointensity in T2-weighted images, with no enhancement after gadolinium injection. Although these MRI features were suggestive of Rathke's cleft cyst, cystic craniopharyngioma or previous hemorrhage, no visual symptoms, diabetes insipidus and/or hyperprolactinemia were present. In addition, similar MRI findings had been previously described in a few cases of CPHD due to PROP-1 mutations, which prompted us to carry out a molecular study before any therapeutic decision was made. A 301302delAG PROP-1 mutation was found in her DNA and the patient was closely followed through ophthalmologic evaluation and pituitary MRI scans. During a 3.6-year follow-up, we were able to document a marked initial growth followed by shrinkage and recurrent growth of the PROP-1 sellar mass. The patient remains free of compressive neuro-ophthalmological signs, suggesting that surgical intervention is unnecessary in these cases. However, they must be followed closely with sellar MRIs and campimetry until the mass completely regresses.
authors.affiliation: Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Sergio Oliva
authors.initials: SO
authors.lastname: Nascif
authors.forename: Teresa Cristina
authors.initials: TC
authors.lastname: Vieira
authors.forename: João Carlos
authors.initials: JC
authors.lastname: Ramos-Dias
authors.forename: Ana-Maria Judith
authors.initials: AM
authors.lastname: Lengyel
authors.forename: Julio
authors.initials: J
authors.lastname: Abucham
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010900:Pituitary Diseases / Q000235:genetics*; D010902:Pituitary Gland / Q000033:anatomy & histology / Q000473:pathology; D010907:Pituitary Hormones / Q000172:deficiency*; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors