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Pituitary gland hypoplasia

MedGen UID:
215300
•Concept ID:
C0948740
•
Disease or Syndrome
Synonym: Pituitary hypoplasia
 
Monarch Initiative: MONDO:0004201

Definition

Incomplete development of the pituitary gland. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPituitary gland hypoplasia

Professional guidelines

PubMed

Amenorrhea: A Systematic Approach to Diagnosis and Management.
Klein DA, Paradise SL, Reeder RM
Am Fam Physician 2019 Jul 1;100(1):39-48. PMID: 31259490
Management of pituitary incidentaloma.
Boguszewski CL, de Castro Musolino NR, Kasuki L
Best Pract Res Clin Endocrinol Metab 2019 Apr;33(2):101268. Epub 2019 Apr 13 doi: 10.1016/j.beem.2019.04.002. PMID: 31027975
Primary amenorrhea: diagnosis and management.
Marsh CA, Grimstad FW
Obstet Gynecol Surv 2014 Oct;69(10):603-12. doi: 10.1097/OGX.0000000000000111. PMID: 25336070

Recent clinical studies

Etiology

Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article

Diagnosis

Clinical course of primary empty sella in children: a singlecenter experience.
Besci Ö, Yaşar E, Erbaş İM, Acınıklı KY, Demir K, Böber E, Abacı A
Turk J Pediatr 2022;64(5):900-908. doi: 10.24953/turkjped.2021.4953. PMID: 36305440
Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia.
Sather Ιιι R, Thompson D, Ihinger J, Montezuma SR
Ophthalmic Genet 2022 Aug;43(4):522-529. Epub 2022 Feb 27 doi: 10.1080/13816810.2022.2039720. PMID: 35225164
Septo-optic dysplasia with fovea plana: A case report.
Keles A, Ilhan C, Teke MY, Tekin K
Eur J Ophthalmol 2020 Sep;30(5):NP36-NP40. Epub 2020 Jun 12 doi: 10.1177/1120672120934961. PMID: 32530711
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Classical and non-classical causes of GH deficiency in the paediatric age.
Di Iorgi N, Morana G, Allegri AE, Napoli F, Gastaldi R, Calcagno A, Patti G, Loche S, Maghnie M
Best Pract Res Clin Endocrinol Metab 2016 Dec;30(6):705-736. Epub 2016 Nov 24 doi: 10.1016/j.beem.2016.11.008. PMID: 27974186

Prognosis

Clinical course of primary empty sella in children: a singlecenter experience.
Besci Ö, Yaşar E, Erbaş İM, Acınıklı KY, Demir K, Böber E, Abacı A
Turk J Pediatr 2022;64(5):900-908. doi: 10.24953/turkjped.2021.4953. PMID: 36305440
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Septo-optic dysplasia with amniotic band syndrome sequence: a case report.
Amiji IA, Mohamed UH, Rutashobya AG, Mngoya M, Schoenmann N, Naburi HE, Manji KP
J Med Case Rep 2019 Dec 16;13(1):370. doi: 10.1186/s13256-019-2306-2. PMID: 31839004Free PMC Article
Classical and non-classical causes of GH deficiency in the paediatric age.
Di Iorgi N, Morana G, Allegri AE, Napoli F, Gastaldi R, Calcagno A, Patti G, Loche S, Maghnie M
Best Pract Res Clin Endocrinol Metab 2016 Dec;30(6):705-736. Epub 2016 Nov 24 doi: 10.1016/j.beem.2016.11.008. PMID: 27974186
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV
Am J Med Genet A 2006 Aug 15;140(16):1711-8. doi: 10.1002/ajmg.a.31335. PMID: 16835935

Clinical prediction guides

Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A, Vitale G, Caporali C, Parazzini C, Milani D, Recalcati MP, D'Amico L, Signorini S, Balottin U, Bastianello S
BMC Med Genomics 2018 Sep 29;11(1):87. doi: 10.1186/s12920-018-0405-3. PMID: 30268123Free PMC Article
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV
Am J Med Genet A 2006 Aug 15;140(16):1711-8. doi: 10.1002/ajmg.a.31335. PMID: 16835935

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