title: PROP-1 gene mutations in a 63-year-old woman presenting with osteoporosis and hyperlipidaemia.
abstract: PROP-1 gene mutations have been reported as a cause of combined pituitary hormone deficiency. Physical and hormonal phenotypes of affected individuals are variable. We report a 63-year-old female who presented with osteoporosis. She was short, did not enter puberty spontaneously and had primary amenorrhea. Biochemical evaluation revealed secondary hypothyroidism and mixed hyperlipidaemia, while dynamic testing of pituitary function was diagnostic of hypopituitarism. Bone density in the lumbar spine disclosed osteoporosis. DNA analysis showed that the patient was homozygote for the R73H mutation of the PROP-1 gene. The unfavourable long-term course of an untreated patient with PROP-1 gene mutation emphasizes the need for early aetiologic classification and proper management and follow-up of patients with short stature and/or disturbances of pubertal development.
authors.affiliation: Department of Endocrinology, University Hospital of Ioannina, Ioannina, Greece. mandrikoula@doctors.org.uk
authors.forename: Maria
authors.initials: M
authors.lastname: Andrikoula
authors.forename: Amalia
authors.initials: A
authors.lastname: Sertedaki
authors.forename: Sofia
authors.initials: S
authors.lastname: Andrikoula
authors.forename: Catherine
authors.initials: C
authors.lastname: Dacou-Voutetakis
authors.forename: Agathocles
authors.initials: A
authors.lastname: Tsatsoulis
mesh_terms: D015415:Biomarkers / Q000097:blood; D001827:Body Height / Q000235:genetics; D004252:DNA Mutational Analysis; D003940:Diagnostic Techniques, Endocrine; D005260:Female; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006728:Hormones / Q000097:blood; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D007018:Hypopituitarism / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008875:Middle Aged; D009154:Mutation; D010024:Osteoporosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D011379:Prognosis; D013997:Time Factors
chemical_list: D015415:Biomarkers; D018398:Homeodomain Proteins; D006728:Hormones; C102134:Prophet of Pit-1 protein