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Pituitary Anomalies
Luke L. Linscott, MD; Karen L. Salzman, MD; Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Ectopic pituitary bright spot
              • Definitions

                • Congenital anomalies of pituitary stalk → potential hypothalamic/pituitary axis malfunction

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Angiographic Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Gross Pathologic & Surgical Features

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Scala M et al: Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia. J Pediatr Endocrinol Metab. 32(1):95-99, 2019
                                              2. Alyahyawi N et al: Pituitary dysfunction in pediatric patients with optic nerve hypoplasia: a retrospective cohort study (1975-2014). Horm Res Paediatr. 89(1):22-30, 2018
                                              3. Boruah DK et al: Extra-pituitary cerebral anomalies in pediatric patients of ectopic neurohypophysis: an uncommon association. J Clin Imaging Sci. 7:19, 2017
                                              4. El Sanharawi I et al: High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis. Pediatr Radiol. 47(5):599-605, 2017
                                              5. Asakura Y et al: Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clin Pediatr Endocrinol. 24(1):27-32, 2015
                                              6. Kilday JP et al: Diabetes insipidus in pediatric germinomas of the suprasellar region: characteristic features and significance of the pituitary bright spot. J Neurooncol. 121(1):167-75, 2015
                                              7. Ören NC et al: Panhypopituitarism with ectopic posterior pituitary lobe, heterotopia, polymicrogyria, corpus callosum dysgenesis, and optic chiasm/nerve hypoplasia: is that an undefined neuronal migration syndrome? AJNR Am J Neuroradiol. ePub, 2015
                                              8. Ramakrishnaiah RH et al: Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia. Ophthalmology. 121(1):387-91, 2014
                                              9. Ginat DT et al: Nasal hamartoma associated with duplicated pituitary. J Comput Assist Tomogr. 37(3):369-70, 2013
                                              10. Maeda Y et al: Clinical presentation of epignathus teratoma with cleft palate; and duplication of cranial base, tongue, mandible, and pituitary gland. J Craniofac Surg. 24(4):1486-91, 2013
                                              11. Manjila S et al: Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature. Surg Neurol Int. 3:23, 2012
                                              12. Usta Y et al: Duplicated pituitary gland and odontoid process. A case report. Neuroradiol J. 25(3):360-3, 2012
                                              13. Kriström B et al: A novel mutation in the LHX3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations. J Clin Endocrinol Metab. 6, 2009
                                              14. Tajima T et al: OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab. 94(1):314-9, 2009
                                              15. Kelberman D et al: SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab. 93(5):1865-73, 2008
                                              16. Loddenkemper T et al: Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects. J Neurol. 255(6):885-90, 2008
                                              17. Vieira TC et al: Central precocious puberty associated with pituitary duplication and midline defects. J Pediatr Endocrinol Metab. 20(10):1141-4, 2007
                                              18. Huisman TA et al: Pituitary duplication and nasopharyngeal teratoma in a newborn: CT, MRI, US and correlative histopathological findings. Neuroradiology. 47(7):558-61, 2005
                                              19. Slavotinek A et al: Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors. Am J Med Genet A. 135(1):13-20, 2005
                                              20. Shroff M et al: Basilar artery duplication associated with pituitary duplication: a new finding. AJNR Am J Neuroradiol. 24(5):956-61, 2003
                                              21. Cushman LJ et al: Genetic defects in the development and function of the anterior pituitary gland. Ann Med. 34(3):179-91, 2002
                                              22. Uchino A et al: Extreme fenestration of the basilar artery associated with cleft palate, nasopharyngeal mature teratoma, and hypophyseal duplication. Eur Radiol. 12(8):2087-90, 2002
                                              23. Burke M et al: Duplication of the hypophysis. Pediatr Neurosurg. 33(2):95-9, 2000
                                              24. Hamilton J et al: MR imaging in idiopathic growth hormone deficiency. AJNR Am J Neuroradiol. 19(9):1609-15, 1998
                                              25. Hamon-Kérautret M et al: Duplication of the pituitary gland in a newborn with median cleft face syndrome and nasal teratoma. Pediatr Radiol. 28(5):290-2, 1998
                                              26. Kollias SS et al: Review of the embryologic development of the pituitary gland and report of a case of hypophyseal duplication detected by MRI. Neuroradiology. 37(1):3-12, 1995
                                              27. Ryals BD et al: Duplication of the pituitary gland as shown by MR. AJNR Am J Neuroradiol. 14(1):137-9, 1993
                                              Related Anatomy
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                                              Related Differential Diagnoses
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                                              References
                                              Tables

                                              Tables

                                              KEY FACTS

                                              • Terminology

                                                • Imaging

                                                  • Top Differential Diagnoses

                                                    • Pathology

                                                      • Clinical Issues

                                                        • Diagnostic Checklist

                                                          TERMINOLOGY

                                                          • Synonyms

                                                            • Ectopic pituitary bright spot
                                                          • Definitions

                                                            • Congenital anomalies of pituitary stalk → potential hypothalamic/pituitary axis malfunction

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Angiographic Findings

                                                                    • Imaging Recommendations

                                                                      DIFFERENTIAL DIAGNOSIS

                                                                        PATHOLOGY

                                                                        • General Features

                                                                          • Gross Pathologic & Surgical Features

                                                                            • Microscopic Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Scala M et al: Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia. J Pediatr Endocrinol Metab. 32(1):95-99, 2019
                                                                                          2. Alyahyawi N et al: Pituitary dysfunction in pediatric patients with optic nerve hypoplasia: a retrospective cohort study (1975-2014). Horm Res Paediatr. 89(1):22-30, 2018
                                                                                          3. Boruah DK et al: Extra-pituitary cerebral anomalies in pediatric patients of ectopic neurohypophysis: an uncommon association. J Clin Imaging Sci. 7:19, 2017
                                                                                          4. El Sanharawi I et al: High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis. Pediatr Radiol. 47(5):599-605, 2017
                                                                                          5. Asakura Y et al: Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clin Pediatr Endocrinol. 24(1):27-32, 2015
                                                                                          6. Kilday JP et al: Diabetes insipidus in pediatric germinomas of the suprasellar region: characteristic features and significance of the pituitary bright spot. J Neurooncol. 121(1):167-75, 2015
                                                                                          7. Ören NC et al: Panhypopituitarism with ectopic posterior pituitary lobe, heterotopia, polymicrogyria, corpus callosum dysgenesis, and optic chiasm/nerve hypoplasia: is that an undefined neuronal migration syndrome? AJNR Am J Neuroradiol. ePub, 2015
                                                                                          8. Ramakrishnaiah RH et al: Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia. Ophthalmology. 121(1):387-91, 2014
                                                                                          9. Ginat DT et al: Nasal hamartoma associated with duplicated pituitary. J Comput Assist Tomogr. 37(3):369-70, 2013
                                                                                          10. Maeda Y et al: Clinical presentation of epignathus teratoma with cleft palate; and duplication of cranial base, tongue, mandible, and pituitary gland. J Craniofac Surg. 24(4):1486-91, 2013
                                                                                          11. Manjila S et al: Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature. Surg Neurol Int. 3:23, 2012
                                                                                          12. Usta Y et al: Duplicated pituitary gland and odontoid process. A case report. Neuroradiol J. 25(3):360-3, 2012
                                                                                          13. Kriström B et al: A novel mutation in the LHX3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations. J Clin Endocrinol Metab. 6, 2009
                                                                                          14. Tajima T et al: OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab. 94(1):314-9, 2009
                                                                                          15. Kelberman D et al: SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab. 93(5):1865-73, 2008
                                                                                          16. Loddenkemper T et al: Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects. J Neurol. 255(6):885-90, 2008
                                                                                          17. Vieira TC et al: Central precocious puberty associated with pituitary duplication and midline defects. J Pediatr Endocrinol Metab. 20(10):1141-4, 2007
                                                                                          18. Huisman TA et al: Pituitary duplication and nasopharyngeal teratoma in a newborn: CT, MRI, US and correlative histopathological findings. Neuroradiology. 47(7):558-61, 2005
                                                                                          19. Slavotinek A et al: Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors. Am J Med Genet A. 135(1):13-20, 2005
                                                                                          20. Shroff M et al: Basilar artery duplication associated with pituitary duplication: a new finding. AJNR Am J Neuroradiol. 24(5):956-61, 2003
                                                                                          21. Cushman LJ et al: Genetic defects in the development and function of the anterior pituitary gland. Ann Med. 34(3):179-91, 2002
                                                                                          22. Uchino A et al: Extreme fenestration of the basilar artery associated with cleft palate, nasopharyngeal mature teratoma, and hypophyseal duplication. Eur Radiol. 12(8):2087-90, 2002
                                                                                          23. Burke M et al: Duplication of the hypophysis. Pediatr Neurosurg. 33(2):95-9, 2000
                                                                                          24. Hamilton J et al: MR imaging in idiopathic growth hormone deficiency. AJNR Am J Neuroradiol. 19(9):1609-15, 1998
                                                                                          25. Hamon-Kérautret M et al: Duplication of the pituitary gland in a newborn with median cleft face syndrome and nasal teratoma. Pediatr Radiol. 28(5):290-2, 1998
                                                                                          26. Kollias SS et al: Review of the embryologic development of the pituitary gland and report of a case of hypophyseal duplication detected by MRI. Neuroradiology. 37(1):3-12, 1995
                                                                                          27. Ryals BD et al: Duplication of the pituitary gland as shown by MR. AJNR Am J Neuroradiol. 14(1):137-9, 1993