Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.
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.
Nascif
Sergio Oliva
SO
Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
Vieira
Teresa Cristina
TC
Ramos-Dias
João Carlos
JC
Lengyel
Ana-Maria Judith
AM
Abucham
Julio
J
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
D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors