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Anterior pituitary dysgenesis

MedGen UID:
869345
Concept ID:
C4023771
Congenital Abnormality
Synonym: Adenohypophysis
 
HPO: HP:0010625

Definition

Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. [from HPO]

Professional guidelines

PubMed

Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961

Recent clinical studies

Etiology

Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. PMID: 31577259Free PMC Article
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants
J Clin Endocrinol Metab 2013 Jun;98(6):E1072-87. Epub 2013 Mar 29 doi: 10.1210/jc.2012-3888. PMID: 23543664Free PMC Article
Chang TC, Summers CG, Schimmenti LA, Grajewski AL
Br J Ophthalmol 2012 Mar;96(3):318-22. Epub 2011 Dec 23 doi: 10.1136/bjophthalmol-2011-300801. PMID: 22199394
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Diagnosis

Danowitz M, Grimberg A
Adv Pediatr 2022 Aug;69(1):203-217. Epub 2022 Jun 17 doi: 10.1016/j.yapd.2022.03.005. PMID: 35985710Free PMC Article
Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. PMID: 31577259Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Therapy

Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Danowitz M, Grimberg A
Adv Pediatr 2022 Aug;69(1):203-217. Epub 2022 Jun 17 doi: 10.1016/j.yapd.2022.03.005. PMID: 35985710Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Prognosis

Al Shaikh A, Daftardar H, Alghamdi AA, Jamjoom M, Awidah S, Ahmed ME, Soliman AT
Acta Biomed 2020 Mar 19;91(1):29-40. doi: 10.23750/abm.v91i1.9182. PMID: 32191651Free PMC Article
Leung AKC, Leung AAC
World J Pediatr 2019 Apr;15(2):124-134. Epub 2019 Feb 8 doi: 10.1007/s12519-019-00230-w. PMID: 30734891
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
Collin J
Paediatr Nurs 2006 Dec;18(10):38-43; quiz 44. doi: 10.7748/paed.18.10.38.s23. PMID: 17193920
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300
Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Fujii M, Nakagawa A, Tachibana O, Iizuka H, Koya D
Endocr J 2021 Aug 28;68(8):943-952. Epub 2021 Apr 3 doi: 10.1507/endocrj.EJ21-0050. PMID: 33814485
Ratha V, Patil S, Karmarkar VS, Shah NJ, Deopujari CE
World Neurosurg 2017 Nov;107:276-284. Epub 2017 Aug 5 doi: 10.1016/j.wneu.2017.07.164. PMID: 28826711
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants
J Clin Endocrinol Metab 2013 Jun;98(6):E1072-87. Epub 2013 Mar 29 doi: 10.1210/jc.2012-3888. PMID: 23543664Free PMC Article

Recent systematic reviews

Alexander EC, Faruqi D, Farquhar R, Unadkat A, Ng Yin K, Hoskyns R, Varughese R, Howard SR
Eur J Endocrinol 2024 Jan 3;190(1):S1-S11. doi: 10.1093/ejendo/lvad166. PMID: 38128110Free PMC Article
Shaki D, Hershkovitz E, Tamam S, Bollotin A, David O, Yalovitsky G, Loewenthal N, Carmon L, Walker D, Nowak R, Haim A
Front Endocrinol (Lausanne) 2023;14:1135768. Epub 2023 Apr 21 doi: 10.3389/fendo.2023.1135768. PMID: 37152958Free PMC Article
Rosenberg AGW, Passone CGB, Pellikaan K, Damiani D, van der Lely AJ, Polak M, Bernardo WM, de Graaff LCG
J Clin Endocrinol Metab 2021 Sep 27;106(10):3068-3091. doi: 10.1210/clinem/dgab406. PMID: 34105729Free PMC Article
Schmidbauer B, Menhart K, Hellwig D, Grosse J
Int J Mol Sci 2017 Jun 17;18(6) doi: 10.3390/ijms18061292. PMID: 28629126Free PMC Article
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants
J Clin Endocrinol Metab 2013 Jun;98(6):E1072-87. Epub 2013 Mar 29 doi: 10.1210/jc.2012-3888. PMID: 23543664Free PMC Article

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