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Posterior pituitary dysgenesis

MedGen UID:
866772
•Concept ID:
C4021123
•
Anatomical Abnormality
Synonyms: Neurohypophysis dysplasia; Posterior pituitary dysplasia
 
HPO: HP:0011753

Definition

Abnormal development of the neurohypophysis during embryonic growth and development. [from HPO]

Professional guidelines

PubMed

Masses and malformations of the third ventricle: normal anatomic relationships and differential diagnoses.
Glastonbury CM, Osborn AG, Salzman KL
Radiographics 2011 Nov-Dec;31(7):1889-905. doi: 10.1148/rg.317115083. PMID: 22084178
Magnetic resonance imaging, clinical manifestations, and management of Rathke's cleft cyst.
Nishioka H, Haraoka J, Izawa H, Ikeda Y
Clin Endocrinol (Oxf) 2006 Feb;64(2):184-8. doi: 10.1111/j.1365-2265.2006.02446.x. PMID: 16430718
Tumors of the skull base in children: review of tumor types and management strategies.
Tsai EC, Santoreneos S, Rutka JT
Neurosurg Focus 2002 May 15;12(5):e1. doi: 10.3171/foc.2002.12.5.2. PMID: 16119897

Recent clinical studies

Etiology

Extra-pituitary midline structural abnormalities associated with ectopic posterior pituitary detected on a new rapid MRI protocol (FAST1.2).
Lyra A, de Faria Guimarães D, Meira AS, Peixoto GV, Sousa E Silva T, Longui CA, Kochi C, da Rocha AJ
Arch Endocrinol Metab 2022 Nov 17;66(6):831-836. Epub 2022 Aug 4 doi: 10.20945/2359-3997000000505. PMID: 35929902Free PMC Article
Review of the MRI brain findings of septo-optic dysplasia.
Ward DJ, Connolly DJA, Griffiths PD
Clin Radiol 2021 Feb;76(2):160.e1-160.e14. Epub 2020 Oct 2 doi: 10.1016/j.crad.2020.09.007. PMID: 33019967
Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome.
Samara A, Lugar HM, Hershey T, Shimony JS
AJNR Am J Neuroradiol 2020 Dec;41(12):2364-2369. Epub 2020 Oct 29 doi: 10.3174/ajnr.A6831. PMID: 33122205Free PMC Article
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.
Cerbone M, Dattani MT
Growth Horm IGF Res 2017 Dec;37:19-25. Epub 2017 Oct 19 doi: 10.1016/j.ghir.2017.10.005. PMID: 29107171
Congenital hypopituitarism: clinico-radiological correlation.
Dutta P, Bhansali A, Singh P, Rajput R, Khandelwal N, Bhadada S
J Pediatr Endocrinol Metab 2009 Oct;22(10):921-8. doi: 10.1515/jpem.2009.22.10.921. PMID: 20020580

Diagnosis

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Halliday BJ, Baynam G, Ewans L, Greenhalgh L, Leventer RJ, Pilz DT, Sachdev R, Scheffer IE, Markie DM, McGillivray G, Robertson SP, Mandelstam S
AJNR Am J Neuroradiol 2022 Nov;43(11):1660-1666. Epub 2022 Oct 13 doi: 10.3174/ajnr.A7663. PMID: 36229163Free PMC Article
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrão MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendonça BB
Arch Endocrinol Metab 2019 May 13;63(2):167-174. doi: 10.20945/2359-3997000000139. PMID: 31090814Free PMC Article
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.
Cerbone M, Dattani MT
Growth Horm IGF Res 2017 Dec;37:19-25. Epub 2017 Oct 19 doi: 10.1016/j.ghir.2017.10.005. PMID: 29107171
Septo-optic dysplasia.
Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM
Arq Neuropsiquiatr 2010 Jun;68(3):400-5. doi: 10.1590/s0004-282x2010000300014. PMID: 20602044
Holoprosencephaly and septo-optic dysplasia.
Fitz CR
Neuroimaging Clin N Am 1994 May;4(2):263-81. PMID: 8081628

Therapy

Is Gadolinium Contrast Necessary for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?
Almaghraby A, Jaju A, Ryan ME, Rychlik K, Habiby RL, Brickman WJ
Horm Res Paediatr 2021;94(5-6):201-210. Epub 2021 Aug 23 doi: 10.1159/000519031. PMID: 34425574
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S
Gene 2013 Oct 15;529(1):186-9. Epub 2013 Aug 6 doi: 10.1016/j.gene.2013.07.031. PMID: 23928108
Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study.
Deal C, Hasselmann C, Pfäffle RW, Zimmermann AG, Quigley CA, Child CJ, Shavrikova EP, Cutler GB Jr, Blum WF
Horm Res Paediatr 2013;79(5):283-92. Epub 2013 May 16 doi: 10.1159/000350829. PMID: 23689058
Morning glory syndrome associated with posterior pituitary ectopia and hypopituitarism.
Pierre-Filho Pde T, Limeira-Soares PH, Marcondes AM
Acta Ophthalmol Scand 2004 Feb;82(1):89-92. doi: 10.1111/j.1395-3907.2004.00214.x. PMID: 14738491
Midtrimester abortion: techniques and complications.
LaFerla JJ
Clin Perinatol 1983 Jun;10(2):305-20. PMID: 6413116

Prognosis

Pituitary hypoplasia is the best MRI predictor of the severity and type of growth hormone deficiency in children with congenital growth hormone deficiency.
Sharma H, Purwar N, Kumar A, Sahlot R, Garg U, Sharma B, Mathur SK
J Pediatr Endocrinol Metab 2021 Jul 27;34(7):851-858. Epub 2021 Apr 7 doi: 10.1515/jpem-2021-0049. PMID: 33823100
Pituitary stalk interruption syndrome: A rare case report and literature review.
Zhang W, Qian F, Lu G, Wu Y, Li R, Xia L, Zhao R, Lin Y, Gu M, Chen W
Medicine (Baltimore) 2020 Dec 11;99(50):e23266. doi: 10.1097/MD.0000000000023266. PMID: 33327247Free PMC Article
FEVR phenotype associated with septo-optic dysplasia.
Zhang DL, Blair MP, Zeid JL, Basith SST, Shapiro MJ
Ophthalmic Genet 2019 Oct;40(5):449-452. doi: 10.1080/13816810.2019.1660380. PMID: 31755341
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.
Cerbone M, Dattani MT
Growth Horm IGF Res 2017 Dec;37:19-25. Epub 2017 Oct 19 doi: 10.1016/j.ghir.2017.10.005. PMID: 29107171
Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency.
Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, Sankhe SS, Bandgar TR, Menon PS, Shah NS
Pituitary 2012 Jun;15(2):243-50. doi: 10.1007/s11102-011-0321-4. PMID: 21667124

Clinical prediction guides

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review.
Correa-Silva SR, Kunii I, Mitne-Neto M, Moreira CM, Dias-da-Silva MR, Abucham J
J Neuroendocrinol 2023 Jan;35(1):e13221. Epub 2022 Dec 10 doi: 10.1111/jne.13221. PMID: 36495109
Extra-pituitary midline structural abnormalities associated with ectopic posterior pituitary detected on a new rapid MRI protocol (FAST1.2).
Lyra A, de Faria Guimarães D, Meira AS, Peixoto GV, Sousa E Silva T, Longui CA, Kochi C, da Rocha AJ
Arch Endocrinol Metab 2022 Nov 17;66(6):831-836. Epub 2022 Aug 4 doi: 10.20945/2359-3997000000505. PMID: 35929902Free PMC Article
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrão MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendonça BB
Arch Endocrinol Metab 2019 May 13;63(2):167-174. doi: 10.20945/2359-3997000000139. PMID: 31090814Free PMC Article
Sella turcica morphology and the pituitary gland-a new contribution to craniofacial diagnostics based on histology and neuroradiology.
Kjær I
Eur J Orthod 2015 Feb;37(1):28-36. Epub 2012 Nov 16 doi: 10.1093/ejo/cjs091. PMID: 23159420
Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia.
Secco A, Allegri AE, di Iorgi N, Napoli F, Calcagno A, Bertelli E, Olivieri I, Pala G, Parodi S, Gastaldi R, Rossi A, Maghnie M
Eur J Endocrinol 2011 Sep;165(3):411-20. Epub 2011 Jul 12 doi: 10.1530/EJE-11-0437. PMID: 21750044

Recent systematic reviews

Intraoperative ultrasound-assisted endoscopic endonasal transclival marsupialization of an ectopic retrosellar Rathke's cleft cyst: A rare case illustration and systematic review of the literature.
Khaleghi M, Vignolles-Jeong J, Otto B, Carrau R, Prevedello D
Clin Neurol Neurosurg 2024 Jan;236:108050. Epub 2023 Nov 10 doi: 10.1016/j.clineuro.2023.108050. PMID: 37995620
Can GH Therapy Worsen a Clinically Silent Chiari Malformation? A Case Report and Systematic Literature Review.
Candela E, La Corte E, Zucchini S, Lefosse M, Toni F, Zucchelli M
Horm Res Paediatr 2023;96(4):349-355. Epub 2022 Aug 24 doi: 10.1159/000526617. PMID: 36001954
Pituitary Adenoma Concomitant with Chiari I Malformation: Case Report and Literature Review.
Villalonga JF, Pilonieta M, Revuelta Barbero JM, Carrau RL, Prevedello DM
World Neurosurg 2019 Sep;129:45-48. Epub 2019 May 20 doi: 10.1016/j.wneu.2019.05.088. PMID: 31121377

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