A rare case of short stature – pituitary stalk transection syndrome
Keywords:
Pituitary stalk, Hypoplasia or aplasia, Ectopic posterior pituitary
Abstract
Short stature due to Growth hormone deficiency could be due to multiple etiologies. One such rare cause is the Pituitary stalk transection syndrome which is characterized by a triad of thin or absent pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary seen on magnetic resonance imaging (MRI). The early identification of growth hormone deficiency through growth hormone stimulation tests, evaluation of the hypothalamic-pituitary anatomy by performing MRI brain and the early initiation of growth hormone replacement therapy may salvage the child from pathological short stature.
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References
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8. Chen S, Léger J, Garel C, et al. 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 Jul;84(7):2408-13.[pubmed]
9. Genovese E, Maghnie M, Beluffi G, et al. Hypothalamic-pituitary vascularization in pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique. PediatrRadiol. 1997 Jan;27(1):48-53. DOI:10.1007/s002470050062.[pubmed]
10. Rona RJ, Tanner JM. Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Child. 1977 Mar;52(3):197-208.[pubmed]
11. 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;64:416–22.
12. Kelly WM, Kucharczyk W, Kucharczyk J, et al. Posterior pituitary ectopia: an MR feature of pituitary dwarfism. AJNR Am J Neuroradiol. 1988 May-Jun;9(3):453-60.[pubmed]
13. Kikuchi K, Fujisawa I, Momoi T, Yamanaka C, et al. Hypothalamic-pituitary function in growth hormone-deficient patients with pituitary stalk transection. J Clin Endocrinol Metab. 1988 Oct;67(4):817-23. DOI:10.1210/jcem-67-4-817.[pubmed]
14. Bar C, Zadro C, Diene G, et al. Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation. PLoS One. 2015 Nov 12;10(11):e0142354. doi: 10.1371/journal.pone.0142354. eCollection 2015.[pubmed]
15. Tauber M, Chevrel J, Diene G, et al. Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. Horm Res. 2005;64(6):266-73. Epub 2005 Oct 15. DOI:10.1159/000089425.
16. van der Linden AS, van Es HW. Case 112: pituitary stalk transection syndrome with ectopic posterior pituitary gland. Radiology. 2007 May;243(2):594-7. DOI:10.1148/radiol.2432040385.[pubmed]
17. Triulzi F, Scotti G, di Natale B, et al. Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients. Pediatrics. 1994 Mar;93(3):409-16.[pubmed]
2. Becker, Kenneth L., ed. (2001). Growth and Development in the Normal Infant and Child, Table 7.1. Principles and Practice of Endocrinology and Metabolism (3 ed.). Philadelphia, Pa.: Lippincott, Williams & Wilkins. p. 69. ISBN 9780781717502.
3. Fujisawa I, Kikuchi K, Nishimura K, et al. Transection of the pituitary stalk: development of an ectopic posterior lobe assessed with MR imaging. Radiology. 1987 Nov;165(2):487-9. DOI:10.1148/radiology.165.2.3659371.[pubmed]
4. El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, et al. 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. Eur J Med Genet. 2011;54:369–73.
5. National Family Health Survey (NFHS) IV (2015–2016) . International Institute for Population Sciences, Ministry of Health and Family Welfare, Government of India. 2016.
6. 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 199;45(3):81–83.[pubmed]
7. Gutch M, Kumar S, Razi SM, et al. Pituitary stalk interruption syndrome: Case report of three cases with review of literature. J PediatrNeurosci. 2014 May;9(2):188-91. doi: 10.4103/1817-1745.139363.
8. Chen S, Léger J, Garel C, et al. 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 Jul;84(7):2408-13.[pubmed]
9. Genovese E, Maghnie M, Beluffi G, et al. Hypothalamic-pituitary vascularization in pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique. PediatrRadiol. 1997 Jan;27(1):48-53. DOI:10.1007/s002470050062.[pubmed]
10. Rona RJ, Tanner JM. Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Child. 1977 Mar;52(3):197-208.[pubmed]
11. 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;64:416–22.
12. Kelly WM, Kucharczyk W, Kucharczyk J, et al. Posterior pituitary ectopia: an MR feature of pituitary dwarfism. AJNR Am J Neuroradiol. 1988 May-Jun;9(3):453-60.[pubmed]
13. Kikuchi K, Fujisawa I, Momoi T, Yamanaka C, et al. Hypothalamic-pituitary function in growth hormone-deficient patients with pituitary stalk transection. J Clin Endocrinol Metab. 1988 Oct;67(4):817-23. DOI:10.1210/jcem-67-4-817.[pubmed]
14. Bar C, Zadro C, Diene G, et al. Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation. PLoS One. 2015 Nov 12;10(11):e0142354. doi: 10.1371/journal.pone.0142354. eCollection 2015.[pubmed]
15. Tauber M, Chevrel J, Diene G, et al. Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. Horm Res. 2005;64(6):266-73. Epub 2005 Oct 15. DOI:10.1159/000089425.
16. van der Linden AS, van Es HW. Case 112: pituitary stalk transection syndrome with ectopic posterior pituitary gland. Radiology. 2007 May;243(2):594-7. DOI:10.1148/radiol.2432040385.[pubmed]
17. Triulzi F, Scotti G, di Natale B, et al. Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients. Pediatrics. 1994 Mar;93(3):409-16.[pubmed]
CITATION
DOI: 10.17511/ijpr.2019.i02.08
Published: 2019-02-28
How to Cite
Dr. Lakshmipriya Chadalawada, Dr. Rachana Nimmagadda, Dr. Hemanth Vupputuri, & Dr. Vijayalakshmi Bhimireddy. (2019). A rare case of short stature – pituitary stalk transection syndrome. Pediatric Review: International Journal of Pediatric Research, 6(2), 87-90. https://doi.org/10.17511/ijpr.2019.i02.08
Section
Case Report
OAI - Open Archives Initiative
