ISSN: 1301-2193 E-ISSN: 1308-9846
  • Turkish Journal of
    Endocrinology and Metabolism

Importance of Magnetic Resonance Imaging in Pituitary Stalk Interruption Syndrome
Hipofiz Sapı Kesinti Sendromunda Manyetik Rezonans Görüntülemenin Önemi
Department of Internal Medicine, Division of Endocrinology and Metabolism, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey *Department of Radiology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey **Department of Pediatric Endocrinology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey ***Clinic of Endocrinology and Metabolism, M. Akif İnan Training and Research Hospital, Şanlıurfa, Turkey ****Department of Internal Medicine, Division of Endocrinology and Metabolism, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
Doi: 10.25179/tjem.2018-61562 - Makale Dili: EN
Turk J Endocrinol Metab 2019;23:77-84
ABSTRACT
Objective: To evaluate the importance of magnetic resonance imaging in the treatment and follow-up of patients with pituitary stalk interruption syndrome. Material and Methods: The study included patients who were admitted to the Endocrinology and Metabolism Clinic of our hospital from 2009 to 2013. Pituitary functions, growth and development curves, and magnetic resonance imaging findings of the patients were evaluated during the follow-up period. Results: The study included three men and two women. Four patients had multiple pituitary hormone deficiency. All cases were diagnosed with short stature with respect to their chronological age. Four patients were diagnosed with pituitary stalk interruption syndrome in their childhood. Isolated growth hormone deficiency was observed only in one patient. Conclusion: Pituitary insufficiency should be considered when evaluating pituitary stalk interruption syndrome. The presence of pituitary stalk and the change in the size of the anterior pituitary gland are crucial magnetic resonance imaging findings in monitoring pituitary functions. In addition, evaluating the size of the pituitary gland may allow early detection of pituitary insufficiency in adult patients with pituitary stalk interruption syndrome.
ÖZET
Amaç: Hipofiz sapı kesinti sendromu hastalarının takip ve tedavisinde manyetik rezonans görüntülemenin önemini değerlendirmektir. Gereç ve Yöntemler: Çalışma grubumuz, 2009-2013 yılları arasında endokrinoloji ve metabolizma hastalıkları polikliniğimize başvuran hastalardan oluşmaktadır. Hasta takibinde hipofiz fonksiyonları, büyüme ve gelişme eğrileri ve manyetik rezonans görüntüleme bulguları değerlendirmeye alındı. Bulgular: Çalışma grubumuz üç erkek ve iki kadın hastadan oluşmaktadır. Dört hastamızda çoklu hipofizer hormon yetmezliği saptandı. Hastalarımızın hepsi kronolojik yaşlarına göre kısa boylu olmaları nedeni ile değerlendirilirken tanı konuldu. Dört hastamıza çocuk yaş grubunda tanı konulmuştu. Sadece bir hastada izole büyüme hormon eksikliği mevcuttu. Sonuç: Hipofiz sapı kesinti sendromlu olguları değerlendirirken hipofiz yetmezliği dikkate alınmalıdır. Manyetik rezonans görüntülemede hipofiz sapının varlığı ve ön hipofiz bezinin büyüklüğünün zaman içinde değişimi, hipofiz bezinin fonksiyonlarının takibinde önemlidir. Ayrıca, hipofiz sapı kesinti sendromlu erişkin yaştaki hastalarda, hipofiz bezinin büyüklüğünün değerlendirilmesi, hipofiz yetmezliğinin erken tanısına olanak sağlayabilmektedir.
Kaynaklar
  1. Tauber M, Chevrel J, Diene G, Moulin P, Jouret B, Oliver I, Pienkowski C, Sevely A. Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. Horm Res. 2005;64:266-273. [Crossref] [PubMed]
  2. Maghnie M, Larizza D, Triulzi F, Sampoalo P, Scotti G, Severi F. Hypopituitarism and stalk agenesis: a congenital syndrome worsened by breech delivery? Horm Res. 1991;35:104-108. [Crossref] [PubMed]
  3. Melo ME, Marui S, Carvalho LR, Arnhold IJ, Leite CC, Mendonça BB, Knoepfelmacher M. Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe. Clin Endocrinol (Oxf). 2007;66:95-102. [Crossref] [PubMed]
  4. Simon D, Hadjiathanasiou C, Garel C, Czernichow P, Léger J. Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia. Clin Endocrinol (Oxf). 2006;64:416-422. [Crossref] [PubMed]
  5. Fujisawa I, Kikuchi K, Nishimura K, Togashi K, Itoh K, Noma S, Minami S, Sagoh T, Hiraoka T, Momoi T. Transection of pituitary stalk: development of an ectopic posterior lobe assessed with MR imaging. Radiology. 1987;166:487-489. [Crossref] [PubMed]
  6. Kelly WM, Kucharczyk W, Kucharczyk J, Kjos B, Peck WW, Norman D, Newton TH. Posterior pituitary ectopia: an MR feature of pituitary dwarfism. AJNR Am J Neuroradiol. 1988;9:453-460.
  7. Kikuchi K, Fujisawa I, Momoi T, Yamanaka C, Kaji M, Nakano Y, Konishi J, Mikawa H, Sudo M. Hypothalamic pituitary function in growth hormone deficient patients with pituitary stalk transection. J Clin Endocrinol Metab. 1988;67:817-823. [Crossref] [PubMed]
  8. Simmons GE, Suchnicki JE, Rak, Damiano TR. MR imaging of the pituitary stalk: size, shape, and enhancement pattern. AJR Am J Roentgenol. 1992;159:375-377. [Crossref] [PubMed]
  9. Shalet SM, Toogood A, Rahim A, Brennan BM. The diagnosis of growth hormone deficiency in children and adults. Endocr Rev. 1998;19:203-223. [Crossref] [PubMed]
  10. Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML. Evaluation and treatment of adult growth hormone deficiency: Endocrine Society Clinical Practice Guidelines. J Clin Endocrinology Metab. 2011;96:1587-1609. [Crossref] [PubMed]
  11. Yousem DM, Grossman RI. Neuroradiology (3rd ed). Philadelphia: Mosby; 2010:279-321.
  12. Patkar D, Patankar T, Krishnan A, Prasad S, Shah J, Limdi J. MR imaging in children with ectopic pituitary gland and anterior hypopituitarism. J Postgrad Med. 1999;45:81-83.
  13. Fujisawa I. Pathogenesis of an ectopic posterior lobe in patients of short stature with growth hormone deficiency. AJR Am J Neuroradiol. 1998;19:193195.
  14. Shizume K, Harada Y, Ibavashi Y, Kumahara Y, Shimizu N. Survey studies on pituitary disease in Japan. Endocrinol Jpn. 1977;24:139-146. [Crossref] [PubMed]
  15. Despert F, Guenault I, Bricaud P, Aubry JC. Hypopituitarism caused by pituitary stalk transsection syndrome. Pathogenic hypotheses apropos of 7 cases. Pediatrie. 1993;48:639-644.
  16. Bar C, Zadro C, Diene G, Oliver I, Pienkowski C, Jouret B, Cartault A, Ajaltouni Z, Salles JP Sevely A, Tauber M, Edouard T. Pituitary stalk interruption syndrome from infancy to adulthood: clinical, hormonal and radiological assessment according to the initial presentation. PLoS One. 2015;10:e0142354. [Crossref] [PubMed] [PMC]
  17. Kulkarni C, Moorthy S, Pullara SK, Rajeshkannan R, Unnikrishnan AG. Pituitary stalk transection syndrome: comparison of clinico-radiological features in adults and children with review of literature. Indian J Radiol Imaging. 2012;22:182-185. [Crossref] [PubMed] [PMC]
  18. Wang W, Wang S, Jiang Y, Yan F, Su T, Zhou W, Jiang L, Zhang Y, Ning G Relationship between pituitary stalk (PS) visibility and the severity of hormone deficiencies: PS interruption syndrome revisited. Clin Endocrinol (Oxf). 2015;83:369-376. [Crossref] [PubMed]
  19. Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM. Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis Clin Endocrinol (Oxf). 2013;79:86-92. [Crossref] [PubMed]
  20. Wang Q, Hu Y, Li G, Sun X. Pituitary stalk interruption syndrome in 59 children: the value of MRI in assessment of pituitary functions. Eur J Pediatr. 2014;173:589-595. [Crossref] [PubMed]
  21. Maghnie M, Genovese E, Villa A, Spagnolo L, Campan R, Severi F. Dynamic MRI in the congenital agenesis of neural pituitary stalk syndrome: the role of the vascular pituitary stalk in predicting residual anterior pituitary function. Clin Endocrinol (Oxf). 1996;45:281-290. [Crossref]
  22. Genovese E, Maghnie M, Beluffi G, Villa A, Sammarchi L, Severi F, Campani R. Hypothalamic-pituitary vascularization in the pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique. Pe Radiol. 1997;24:48-53. [Crossref] [PubMed]
  23. Maghnie M, Triulzi F, Larizza D, Preti P, Priora C, Scotti G, Severi F. Hypothalamic-pituitary dysfunction in growth hormone deficient patients with pituitary abnormalities. J Clin Endocrinol Metab. 1991;73:79-83. [Crossref] [PubMed]
  24. Chen S, Léger J, Garel C, Hassan M, Czernichow P. Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function. J Clin Endocrinol Metab. 1999;84: 2408-2413. [Crossref] [PubMed]
  25. Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T. Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. Eur J Endocrinol. 2011;164:457-465. [Crossref] [PubMed]
  26. Davis SW, Castinetti F, Carvalho LR, Ellsworth BS, Potok MA, Lyons RH, Brinkmeier ML, Raetzman LT, Carninci P, Mortensen AH, Hayashizaki Y, Arnhold IJ, Mendonça BB, Brue T, Camper SA. Molecular mechanisms of pituitary organogenesis: in search of novel regulatory genes. Mol Cell Endocrinol. 2010;323:4-19. [Crossref] [PubMed] [PMC]
  27. Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR.. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015;100:E140-147. [Crossref] [PubMed] [PMC]
  28. Guo QH, Wang CZ, Wu ZQ, Qin Y, Han BY, Wang AP, Wang BA, Dou JT, Wu XS, Mu YM. Multi-genic pattern found in rare type of hypopituitarism: a wholeexome sequencing study of Han Chinese with pituitary stalk interruption syndrome. J Cell Mol d. 2017;21:3626-3632. [Crossref] [PubMed] [PMC]